R39K5B last accessed: 2022-11-04

ensembl
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

Other names: e!, ensembl

Ensembl aims to provide a centralized resource for geneticists, molecular biologists and other researchers studying the genomes of our own species and other vertebrates and model organisms. Ensembl is one of several well known genome browsers for the retrieval of genomic information.

Webpage:

www.ensembl.org

Licence:

Name: Ensembl - specific / no license
URL: https://www.ensembl.org/info/about/legal/disclaimer.html

Publications: (63)

Publications
More detailed information about this field from each metasource.

GENCODE: the reference human genome annotation for The ENCODE Project
PMID: 22955987
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

The Ensembl Variant Effect Predictor
PMID: 27268795
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2018
PMID: 29155950
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
PMID: 20562413
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2014
PMID: 24316576
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2016
PMID: 26687719
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2015
PMID: 25352552
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

The Ensembl genome database project
PMID: 11752248
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

Ensembl 2020
PMID: 31691826
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates
PMID: 19029536
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2013
PMID: 23203987
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl BioMarts: a hub for data retrieval across taxonomic space
PMID: 21785142
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2012
PMID: 22086963
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2009
PMID: 19033362
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

Ensembl 2007
PMID: 17148474
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

Ensembl 2011
PMID: 21045057
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2019
PMID: 30407521
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

The Ensembl gene annotation system
PMID: 27337980
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2017
PMID: 27899575
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2008
PMID: 18000006
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

The ensembl regulatory build
PMID: 25887522
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

The Ensembl automatic gene annotation system
PMID: 15123590
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2005
PMID: 15608235
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

Ensembl 2006
PMID: 16381931
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

Ensembl's 10th year
PMID: 19906699
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

Ensembl comparative genomics resources
PMID: 26896847
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Genome-wide nucleotide-level mammalian ancestor reconstruction
PMID: 18849525
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl 2002: accommodating comparative genomics
PMID: 12519943
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

Ensembl 2004
PMID: 14681459
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

The Ensembl REST API: Ensembl Data for Any Language
PMID: 25236461
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl comparative genomics resources
PMID: 27141089
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl variation resources
PMID: 20459805
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

The Ensembl core software libraries
PMID: 15123588
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

The Ensembl Web site: mechanics of a genome browser
PMID: 15123591
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Incorporating RNA-seq data into the zebrafish Ensembl genebuild
PMID: 22798491
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

The Ensembl analysis pipeline
PMID: 15123589
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

ESTGenes: alternative splicing from ESTs in Ensembl
PMID: 15123595
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

WiggleTools: parallel processing of large collections of genome-wide datasets for visualization and statistical analysis
PMID: 24363377
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Ensembl regulation resources
PMID: 26888907
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

A database and API for variation, dense genotyping and resequencing data
PMID: 20459810
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

eHive: an artificial intelligence workflow system for genomic analysis
PMID: 20459813
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Touring Ensembl: a practical guide to genome browsing
PMID: 20459808
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Genome browsing with Ensembl: a practical overview
PMID: 17967807
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

ncRNA orthologies in the vertebrate lineage
PMID: 26980512
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

TranscriptSNPView: a genome-wide catalog of mouse coding variation
PMID: 16874317
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

Genome information resources - developments at Ensembl
PMID: 15145580
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

The Ensembl computing architecture
PMID: 15123594
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

http://dx.doi.org/10.1093/nar/gku1010
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802

http://dx.doi.org/10.1093/nar/gkt1196
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://dx.doi.org/10.1093/nar/gks1236
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://dx.doi.org/10.1093/nar/gkr991
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://dx.doi.org/10.1093/nar/gkq1064
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://dx.doi.org/10.1093/nar/gkp972
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://dx.doi.org/10.1093/nar/gkn828
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://dx.doi.org/10.1093/nar/gkm988
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://dx.doi.org/10.1093/nar/gkl996
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://dx.doi.org/10.1093/nar/gkj133
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://dx.doi.org/10.1093/nar/gki138
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://nar.oxfordjournals.org/cgi/content/full/32/suppl_1/D468
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://nar.oxfordjournals.org/cgi/content/full/31/1/38
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

http://nar.oxfordjournals.org/cgi/content/full/30/1/38
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Disease and phenotype data at Ensembl
PMID: 21400687
metasource: Fairsharing.org
version: FAIRsharing.org: Ensembl; Ensembl; DOI: https://doi.org/10.25504/FAIRsharing.fx0mw7; Last edited: July 8, 2021, 1:54 p.m.; Last accessed: Jan 03 2022 7:08 p.m.

https://doi.org/10.1093/nar/gkaa942
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

GENCODE: the reference human genome annotation for The ENCODE Project PubMed citations: 2315.

2315 articles citing: GENCODE: the reference human genome annotation for The ENCODE Project

RNA sequencing reveals dynamic expression of spleen lncRNAs and mRNAs in Beagle dogs infected by Toxocara canis. PMID:35927758
Exploring the lncRNA localization landscape within the retinal pigment epithelium under normal and stress conditions. PMID:35883037
Chronology of natural selection in Oceanian genomes. PMID:35880026
Oncogene addiction to GNAS in GNASR201 mutant tumors. PMID:35879396
Functional interplay between long non-coding RNAs and Breast CSCs. PMID:35864503
ISR8/IRF1-AS1 Is Relevant for IFNα and NF-κB Responses. PMID:35860270
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers. PMID:35843982
Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder. PMID:35840799
Cancer type classification using plasma cell-free RNAs derived from human and microbes. PMID:35816095
Monocytic-Myeloid Derived Suppressor Cells Suppress T-Cell Responses in Recovered SARS CoV2-Infected Individuals. PMID:35812392
Bioinformatics Approaches for Determining the Functional Impact of Repetitive Elements on Non-coding RNAs. PMID:35796972
Construction of a Prognostic Immune-Related LncRNA Risk Model for Gastric Cancer. PMID:35794986
Comprehensive Analysis of LINC01615 in Head and Neck Squamous Cell Carcinoma: A Hub Biomarker Identified by Machine Learning and Experimental Validation. PMID:35794984
Exploring the Potential of Pyroptosis-Related Genes in Predicting Prognosis and Immunological Characteristics of Pancreatic Cancer From the Perspective of Genome and Transcriptome. PMID:35785176
Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia. PMID:35784475
DESSO-DB: A web database for sequence and shape motif analyses and identification. PMID:35782725
Integrative mRNA and Long Noncoding RNA Analysis Reveals the Regulatory Network of Floral Bud Induction in Longan (Dimocarpus longan Lour.). PMID:35774802
Microbiota, not host origin drives ex vivo intestinal epithelial responses. PMID:35758256
The origin of bladder cancer from mucosal field effects. PMID:35747385
Unexpected Effect of IL-1β on the Function of GABAA Receptors in Pediatric Focal Cortical Dysplasia. PMID:35741692
Non-Coding RNA Networks as Potential Novel Biomarker and Therapeutic Target for Sepsis and Sepsis-Related Multi-Organ Failure. PMID:35741168
The Long Non-Coding RNA GOMAFU in Schizophrenia: Function, Disease Risk, and Beyond. PMID:35741078
Construction and validation of N6-methyladenosine long non-coding RNAs signature of prognostic value for early biochemical recurrence of prostate cancer. PMID:35731271
The intestinal microbiota influences the microenvironment of metastatic colon cancer by targeting miRNAs. PMID:35712898
X chromosome inactivation in the human placenta is patchy and distinct from adult tissues. PMID:35712697
A multifunctional locus controls motor neuron differentiation through short and long noncoding RNAs. PMID:35698802
Somatic point mutations are enriched in non-coding RNAs with possible regulatory function in breast cancer. PMID:35672401
The clinical efficiency of transcriptome-based endometrial receptivity assessment (Tb-ERA) in Chinese patients with recurrent implantation failure (RIF): A study protocol for a prospective randomized controlled trial. PMID:35669489
Tangled quest of post-COVID-19 infection-caused neuropathology and what 3P nano-bio-medicine can solve? PMID:35668839
Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19. PMID:35663963
The LINC01929/miR-6875-5p/ADAMTS12 Axis in the ceRNA Network Regulates the Development of Advanced Bladder Cancer. PMID:35646642
Deep Splicer: A CNN Model for Splice Site Prediction in Genetic Sequences. PMID:35627292
Paired guide RNA CRISPR-Cas9 screening for protein-coding genes and lncRNAs involved in transdifferentiation of human B-cells to macrophages. PMID:35619054
Senescence-induced endothelial phenotypes underpin immune-mediated senescence surveillance. PMID:35618311
Identification of Long Noncoding RNAs Involved in Eyelid Pigmentation of Hereford Cattle. PMID:35601493
Berberine and Oligomeric Proanthocyanidins Exhibit Synergistic Efficacy Through Regulation of PI3K-Akt Signaling Pathway in Colorectal Cancer. PMID:35600365
Immune Subtype Profiling and Establishment of Prognostic Immune-Related lncRNA Pairs in Human Ovarian Cancer. PMID:35578596
Progresses in epigenetic studies of asthma from the perspective of high-throughput analysis technologies: a narrative review. PMID:35571411
The Role of Non-Coding RNAs in the Human Placenta. PMID:35563893
The Role of Epigenetics in Primary Biliary Cholangitis. PMID:35563266
Skin-Expressing lncRNAs in Inflammatory Responses. PMID:35559048
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. PMID:35551307
Identification of Prognostic Biomarkers for Glioblastoma Based on Transcriptome and Proteome Association Analysis. PMID:35538679
A genome-wide CRISPR-Cas9 knockout screen identifies essential and growth-restricting genes in human trophoblast stem cells. PMID:35538076
Spatial epitranscriptomics reveals A-to-I editome specific to cancer stem cell microniches. PMID:35534484
Dynamic and widespread control of poly(A) tail length during macrophage activation. PMID:35512831
Native RNA or cDNA Sequencing for Transcriptomic Analysis: A Case Study on Saccharomyces cerevisiae. PMID:35497361
Classification of non-coding variants with high pathogenic impact. PMID:35486646
Allele-specific H3K9me3 and DNA methylation co-marked CpG-rich regions serve as potential imprinting control regions in pre-implantation embryo. PMID:35484247
MafB, WDR77, and ß-catenin interact with each other and have similar genome association profiles. PMID:35482762
Asymptomatic SARS-CoV-2 Infection Is Associated With Higher Levels of Serum IL-17C, Matrix Metalloproteinase 10 and Fibroblast Growth Factors Than Mild Symptomatic COVID-19. PMID:35479098
SETDB1 fuels the lung cancer phenotype by modulating epigenome, 3D genome organization and chromatin mechanical properties. PMID:35474385
Intraspecific de novo gene birth revealed by presence-absence variant genes in Caenorhabditis elegans. PMID:35464238
Specification of CNS macrophage subsets occurs postnatally in defined niches. PMID:35444273
Tandem Exon Duplications Expanding the Alternative Splicing Repertoire. PMID:35441045
circFAM120B functions as a tumor suppressor in esophageal squamous cell carcinoma via the miR-661/PPM1L axis and the PKR/p38 MAPK/EMT pathway. PMID:35436983
Construction of the Six-lncRNA Prognosis Signature as a Novel Biomarker in Esophageal Squamous Cell Carcinoma. PMID:35432441
REIA: A database for cancer A-to-I RNA editing with interactive analysis. PMID:35414795
Non-coding RNA LEVER sequestration of PRC2 can mediate long range gene regulation. PMID:35411071
Profiling Blood Serum Extracellular Vesicles in Plaque Psoriasis and Psoriatic Arthritis Patients Reveals Potential Disease Biomarkers. PMID:35409365
DUX4 is a multifunctional factor priming human embryonic genome activation. PMID:35402882
CRISPRs in the human genome are differentially expressed between malignant and normal adjacent to tumor tissue. PMID:35396392
Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data. PMID:35386517
Ancestry adjustment improves genome-wide estimates of regional intolerance. PMID:35385101
Identification and evaluation of circulating small extracellular vesicle microRNAs as diagnostic biomarkers for patients with indeterminate pulmonary nodules. PMID:35366907
A single-cell analysis of breast cancer cell lines to study tumour heterogeneity and drug response. PMID:35361816
Paleozoic Protein Fossils Illuminate the Evolution of Vertebrate Genomes and Transposable Elements. PMID:35348724
Genome-wide Analysis Reflects Novel 5-Hydroxymethylcytosines Implicated in Diabetic Nephropathy and the Biomarker Potential. PMID:35342902
Analysis of Ferroptosis-Related LncRNAs Signatures Associated with Tumor Immune Infiltration and Experimental Validation in Clear Cell Renal Cell Carcinoma. PMID:35342303
METRO: Multi-ancestry transcriptome-wide association studies for powerful gene-trait association detection. PMID:35334221
Screening and Identification of Putative Long Non-Coding RNA in Childhood Obesity: Evaluation of Their Transcriptional Levels. PMID:35327332
SWI/SNF Antagonism of PRC2 Mediates Estrogen-Induced Progesterone Receptor Expression. PMID:35326450
Modelling the genetic aetiology of complex disease: human-mouse conservation of noncoding features and disease-associated loci. PMID:35317627
StemSC: a cross-dataset human stemness index for single-cell samples. PMID:35313979
Viral long non-coding RNA regulates virus life-cycle and pathogenicity. PMID:35301646
Integrating the Epigenome and Transcriptome of Hepatocellular Carcinoma to Identify Systematic Enhancer Aberrations and Establish an Aberrant Enhancer-Related Prognostic Signature. PMID:35300417
ArhGEF12 activates Rap1A and not RhoA in human dermal microvascular endothelial cells to reduce tumor necrosis factor-induced leak. PMID:35294066
Electrical modulation of transplanted stem cells improves functional recovery in a rodent model of stroke. PMID:35292643
SCAPE: a mixture model revealing single-cell polyadenylation diversity and cellular dynamics during cell differentiation and reprogramming. PMID:35288753
Predicting exon criticality from protein sequence. PMID:35286381
Derivation, Comprehensive Analysis, and Assay Validation of a Pyroptosis-Related lncRNA Prognostic Signature in Patients With Ovarian Cancer. PMID:35280739
C10orf99/GPR15L Regulates Proinflammatory Response of Keratinocytes and Barrier Formation of the Skin. PMID:35273606
Linc-RAM promotes muscle cell differentiation via regulating glycogen phosphorylase activity. PMID:35254536
Methylation- and homologous recombination deficiency-related mutant genes predict the prognosis of lung adenocarcinoma. PMID:35238419
TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs. PMID:35232478
Remodeling the tumor microenvironment via blockade of LAIR-1 and TGF-β signaling enables PD-L1-mediated tumor eradication. PMID:35230974
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
LncRNA Biomarkers of Inflammation and Cancer. PMID:35220568
The Complexity of the Mammalian Transcriptome. PMID:35220563
A multi-dimensional integrative scoring framework for predicting functional variants in the human genome. PMID:35216679
Single-cell eQTL analysis of activated T cell subsets reveals activation and cell type-dependent effects of disease-risk variants. PMID:35213211
Novel Genetic Prognostic Signature for Lung Adenocarcinoma Identified by Differences in Gene Expression Profiles of Low- and High-Grade Histological Subtypes. PMID:35204661
Functional Interactions Between lncRNAs/circRNAs and miRNAs: Insights Into Rheumatoid Arthritis. PMID:35197980
Tumor ENPP1 (CD203a)/Haptoglobin Axis Exploits Myeloid-Derived Suppressor Cells to Promote Post-Radiotherapy Local Recurrence in Breast Cancer. PMID:35191482
A comparison of experimental assays and analytical methods for genome-wide identification of active enhancers. PMID:35177836
Robust Transcriptional Profiling and Identification of Differentially Expressed Genes With Low Input RNA Sequencing of Adult Hippocampal Neural Stem and Progenitor Populations. PMID:35173579
Identification of Circulating lncRNAs Associated with Gallbladder Cancer Risk by Tissue-Based Preselection, Cis-eQTL Validation, and Analysis of Association with Genotype-Based Expression. PMID:35158906
Serum RNAs can predict lung cancer up to 10 years prior to diagnosis. PMID:35147498
Secreted Toxins From Staphylococcus aureus Strains Isolated From Keratinocyte Skin Cancers Mediate Pro-tumorigenic Inflammatory Responses in the Skin. PMID:35145494
The Carbon Footprint of Bioinformatics. PMID:35143670
Bioinformatic Analyses of the Ferroptosis-Related lncRNAs Signature for Ovarian Cancer. PMID:35127813
Multi-omic profiling of peritoneal metastases in gastric cancer identifies molecular subtypes and therapeutic vulnerabilities. PMID:35121863
A seven-lncRNA signature for predicting prognosis in breast carcinoma. PMID:35116701
CECR2 drives breast cancer metastasis by promoting NF-κB signaling and macrophage-mediated immune suppression. PMID:35108062
Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study. PMID:35106505
Haplotype-based inference of the distribution of fitness effects. PMID:35100400
GenomeTornadoPlot: A novel R package for CNV visualization and focality analysis. PMID:35099519
Long Non-coding RNA ZFPM2-AS1: A Novel Biomarker in the Pathogenesis of Human Cancers. PMID:35098483
CBX2 and EZH2 cooperatively promote the growth and metastasis of lung adenocarcinoma. PMID:35070495
Integrated clinical characteristics and omics analysis identifies a ferroptosis and iron-metabolism-related lncRNA signature for predicting prognosis and therapeutic responses in ovarian cancer. PMID:35057848
Transcriptional Analysis-Based Alterations Affecting Neuritogenesis of the Peripheral Nervous System in Psoriasis. PMID:35054504
Murine roseolovirus does not accelerate amyloid-β pathology and human roseoloviruses are not over-represented in Alzheimer disease brains. PMID:35033173
Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period. PMID:35030990
Role of cardiolipins, mitochondria, and autophagy in the differentiation process activated by all-trans retinoic acid in acute promyelocytic leukemia. PMID:35013142
Titanium with nanotopography attenuates the osteoclast-induced disruption of osteoblast differentiation by regulating histone methylation. PMID:35012895
Genomic studies controvert the existence of the CUX1 p75 isoform. PMID:34997000
Limb development genes underlie variation in human fingerprint patterns. PMID:34995520
Universal annotation of the human genome through integration of over a thousand epigenomic datasets. PMID:34991667
JAFFAL: detecting fusion genes with long-read transcriptome sequencing. PMID:34991664
The importance of enhancer methylation for epigenetic regulation of tumorigenesis in squamous lung cancer. PMID:34987166
Deconvolving Clinically Relevant Cellular Immune Cross-talk from Bulk Gene Expression Using CODEFACS and LIRICS Stratifies Patients with Melanoma to Anti-PD-1 Therapy. PMID:34983745
Screening and analysis of RNAs associated with activated memory CD4 and CD8 T cells in liver cancer. PMID:34980144
LncRNA PCAT19 induced by SP1 and acted as oncogene in gastric cancer competitively binding to miR429 and upregulating DHX9. PMID:34976174
m6A Modification-Mediated DUXAP8 Regulation of Malignant Phenotype and Chemotherapy Resistance of Hepatocellular Carcinoma Through miR-584-5p/MAPK1/ERK Pathway Axis. PMID:34957112
Network Integration Analysis and Immune Infiltration Analysis Reveal Potential Biomarkers for Primary Open-Angle Glaucoma. PMID:34926471
Evolving features of human cortical development and the emerging roles of non-coding RNAs in neural progenitor cell diversity and function. PMID:34921638
Alternative polyadenylation is a determinant of oncogenic Ras function. PMID:34919436
Control of Foxp3 induction and maintenance by sequential histone acetylation and DNA demethylation. PMID:34910919
β2-spectrin (SPTBN1) as a therapeutic target for diet-induced liver disease and preventing cancer development. PMID:34910547
Emerging Roles of Long Noncoding RNAs in Immuno-Oncology. PMID:34900986
Long non-coding RNAs as possible therapeutic targets in protozoa, and in Schistosoma and other helminths. PMID:34859292
Integrative Analysis of Epigenome and Transcriptome Data Reveals Aberrantly Methylated Promoters and Enhancers in Hepatocellular Carcinoma. PMID:34858848
Key Markers Involved in the Anticolon Cancer Response of CD8+ T Cells through the Regulation of Cholesterol Metabolism. PMID:34858500
An autoimmune stem-like CD8 T cell population drives type 1 diabetes. PMID:34847567
Analysis of the long noncoding RNA profiles of RD and SH-SY5Y cells infected with coxsackievirus B5, using RNA sequencing. PMID:34839420
Predictive modeling of gene expression regulation. PMID:34837938
Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes. PMID:34836952
ATR inhibition enables complete tumour regression in ALK-driven NB mouse models. PMID:34819497
A novel role for vaping in mitochondrial gene dysregulation and inflammation fundamental to disease development. PMID:34815430
Genome-wide identification and characterization of circular RNA m6A modification in pancreatic cancer. PMID:34798904
Potential biomarkers of abnormal osseointegration of implants in type II diabetes mellitus. PMID:34794414
PP2A is a therapeutically targetable driver of cell fate decisions via a c-Myc/p21 axis in human and murine acute myeloid leukemia. PMID:34788382
Muscle fibrosis and maladaptation occur progressively in CKD and are rescued by dialysis. PMID:34784301
Differential Expression Profiles of lncRNA Following LPS-Induced Inflammation in Bovine Mammary Epithelial Cells. PMID:34778437
Novel and Annotated Long Noncoding RNAs Associated with Ischemia in the Human Heart. PMID:34768754
ASB2 is a direct target of FLI1 that sustains NF-κB pathway activation in germinal center-derived diffuse large B-cell lymphoma. PMID:34763718
The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets. PMID:34760887
Klf5 establishes bi-potential cell fate by dual regulation of ICM and TE specification genes. PMID:34758315
FusionGDB 2.0: fusion gene annotation updates aided by deep learning. PMID:34755868
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients. PMID:34746695
Comprehensive analysis of N6 -methyladenosine-related long non-coding RNAs for prognosis prediction in liver hepatocellular carcinoma. PMID:34741346
Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads. PMID:34725481
Derivation and Comprehensive Analysis of Aging Patterns in Patients with Bladder Cancer. PMID:34721733
Robust Virus-Specific Adaptive Immunity in COVID-19 Patients with SARS-CoV-2 Δ382 Variant Infection. PMID:34716845
Somatic driver mutation prevalence in 1844 prostate cancers identifies ZNRF3 loss as a predictor of metastatic relapse. PMID:34716314
NanoMethViz: An R/Bioconductor package for visualizing long-read methylation data. PMID:34695109
Machine learning applications for therapeutic tasks with genomics data. PMID:34693370
Muscle Regeneration and RNA: New Perspectives for Ancient Molecules. PMID:34685492
Anthocyanins from Aristotelia chilensis Prevent Olanzapine-Induced Hepatic-Lipid Accumulation but Not Insulin Resistance in Skeletal Muscle Cells. PMID:34684731
IL-1-driven stromal-neutrophil interactions define a subset of patients with inflammatory bowel disease that does not respond to therapies. PMID:34675383
Quantifying full-length circular RNAs in cancer. PMID:34663689
Comprehensive Genomic Characterization Analysis Identifies an Oncogenic Pseudogene RP11-3543B.1 in Human Gastric Cancer. PMID:34660601
The key role of NLRP3 and STING in APOL1-associated podocytopathy. PMID:34651582
Building the mega single-cell transcriptome ocular meta-atlas. PMID:34651173
Benchmarking sequencing methods and tools that facilitate the study of alternative polyadenylation. PMID:34649612
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes. PMID:34642339
Chromatin Velocity reveals epigenetic dynamics by single-cell profiling of heterochromatin and euchromatin. PMID:34635836
Diverse functional elements in RNA predicted transcriptome-wide by orthogonal RNA structure probing. PMID:34634799
Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes. PMID:34621263
Multi-tiered analyses of honey bees that resist or succumb to parasitic mites and viruses. PMID:34610790
Targeting mutant p53 for cancer therapy: direct and indirect strategies. PMID:34583722
High frequency of intron retention and clustered H3K4me3-marked nucleosomes in short first introns of human long non-coding RNAs. PMID:34579770
Full-length transcriptome analysis and identification of transcript structures in Eimeria necatrix from different developmental stages by single-molecule real-time sequencing. PMID:34579769
Gene Expression Analysis in Patients with Cocaine-Induced Midline Destructive Lesions. PMID:34577784
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants. PMID:34573290
TP53 loss initiates chromosomal instability in fallopian tube epithelial cells. PMID:34569598
Comprehensive analyses of glycolysis-related lncRNAs for ovarian cancer patients. PMID:34560889
HIV reprograms host m6Am RNA methylome by viral Vpr protein-mediated degradation of PCIF1. PMID:34545078
Characterization of the Potential Role of NTPCR in Epithelial Ovarian Cancer by Integrating Transcriptomic and Metabolomic Analysis. PMID:34539736
ISOTOPE: ISOform-guided prediction of epiTOPEs in cancer. PMID:34529669
Integrative Epigenome Map of the Normal Human Prostate Provides Insights Into Prostate Cancer Predisposition. PMID:34513844
Predicting Target Genes of San-Huang-Chai-Zhu Formula in Treating ANIT-Induced Acute Intrahepatic Cholestasis Rat Model via Bioinformatics Analysis Combined with Experimental Validation. PMID:34512777
Epigenetic Regulation of the Vascular Endothelium by Angiogenic LncRNAs. PMID:34512715
Integrative analysis of epigenetics data identifies gene-specific regulatory elements. PMID:34508352
A Novel Regulatory Player in the Innate Immune System: Long Non-Coding RNAs. PMID:34502451
Identifying the Main Functional Pathways Associated with Cognitive Resilience to Alzheimer's Disease. PMID:34502030
A compendium of uniformly processed human gene expression and splicing quantitative trait loci. PMID:34493866
A pair of long intergenic non-coding RNA LINC00887 variants act antagonistically to control Carbonic Anhydrase IX transcription upon hypoxia in tongue squamous carcinoma progression. PMID:34493285
The regulatory pattern of target gene expression by aberrant enhancer methylation in glioblastoma. PMID:34482818
Molecular genetic evaluation of pediatric renovascular hypertension due to renal artery stenosis and abdominal aortic coarctation in neurofibromatosis type 1. PMID:34476477
UV-induced reduction in Polycomb repression promotes epidermal pigmentation. PMID:34473941
Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations. PMID:34469064
Cap analysis of gene expression (CAGE) and noncoding regulatory elements. PMID:34468849
YAP and TAZ are transcriptional co-activators of AP-1 proteins and STAT3 during breast cellular transformation. PMID:34463254
An approach to gene-based testing accounting for dependence of tests among nearby genes. PMID:34459489
RP11-616M22.7 recapitulates imatinib resistance in gastrointestinal stromal tumor. PMID:34458010
Genome-wide profiling of alternative splicing in glioblastoma and their clinical value. PMID:34445990
High Concentration of an ISS-N1-Targeting Antisense Oligonucleotide Causes Massive Perturbation of the Transcriptome. PMID:34445083
Biomolecule and Bioentity Interaction Databases in Systems Biology: A Comprehensive Review. PMID:34439912
Absent from DNA and protein: genomic characterization of nullomers and nullpeptides across functional categories and evolution. PMID:34433494
Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain. PMID:34425903
The impact of LncRNA dysregulation on clinicopathology and survival of pancreatic cancer: a systematic review and meta-analysis (PRISMA compliant). PMID:34425840
The endogenous mex-3 3´UTR is required for germline repression and contributes to optimal fecundity in C. elegans. PMID:34424904
Non-redundant functions of H2A.Z.1 and H2A.Z.2 in chromosome segregation and cell cycle progression. PMID:34423893
Long Non-coding RNA RP11-395G23.3 Acts as a Competing Endogenous RNA of miR-124-3p to Regulate ROR1 in Anaplastic Thyroid Carcinoma. PMID:34421987
A novel immune signature to predict the prognosis of patients with hepatocellular carcinoma. PMID:34414957
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. PMID:34413140
Mechanism-Centric Approaches for Biomarker Detection and Precision Therapeutics in Cancer. PMID:34408770
Long Noncoding RNAs as Emerging Regulators of COVID-19. PMID:34408749
Single-cell evaluation reveals shifts in the tumor-immune niches that shape and maintain aggressive lesions in the breast. PMID:34408137
Intussusceptive Angiogenesis in Human Metastatic Malignant Melanoma. PMID:34400131
LncRNA OGFRP1 acts as an oncogene in NSCLC via miR-4640-5p/eIF5A axis. PMID:34389018
Precision treatment exploration of breast cancer based on heterogeneity analysis of lncRNAs at the single-cell level. PMID:34388989
Transcriptomic and Epigenetic Profiling of Fibroblasts in Idiopathic Pulmonary Fibrosis. PMID:34370624
Four Prognosis-Associated lncRNAs Serve as Biomarkers in Ovarian Cancer. PMID:34367239
A Tissue-Specific Landscape of Alternative Polyadenylation, lncRNAs, TFs, and Gene Co-expression Networks in Liriodendron chinense. PMID:34367224
SDE2 is an essential gene required for ribosome biogenesis and the regulation of alternative splicing. PMID:34365507
Cloud Computing Based Immunopeptidomics Utilizing Community Curated Variant Libraries Simplifies and Improves Neo-Antigen Discovery in Metastatic Melanoma. PMID:34359654
Integrated Analysis of Long Non-Coding RNA and mRNA Expression Profiles in Testes of Calves and Sexually Mature Wandong Bulls (Bos taurus). PMID:34359134
Hippocampal Transcriptome Changes After Subarachnoid Hemorrhage in Mice. PMID:34354664
Comprehensive analysis of lncRNAs involved in skeletal muscle development in ZBED6-knockout Bama pigs. PMID:34348644
Pre-pregnancy BMI-associated miRNA and mRNA expression signatures in the placenta highlight a sexually-dimorphic response to maternal underweight status. PMID:34344912
Progesterone receptor antagonists reverse stem cell expansion and the paracrine effectors of progesterone action in the mouse mammary gland. PMID:34344445
Transgenic mice for in vivo epigenome editing with CRISPR-based systems. PMID:34341582
Plasmodium falciparum transcription in different clinical presentations of malaria associates with circulation time of infected erythrocytes. PMID:34330920
Systematic Profiling of mRNA Splicing Reveals the Prognostic Predictor and Potential Therapeutic Target for Glioblastoma Multiforme. PMID:34326872
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets. PMID:34326338
lncRNA-PACER upregulates COX-2 and PGE2 through the NF-κB pathway to promote the proliferation and invasion of colorectal-cancer cells. PMID:34316376
Tissue-specific expression of p73 and p63 isoforms in human tissues. PMID:34315849
Web tools to perform long non-coding RNAs analysis in oncology research. PMID:34296748
Gucy2d selectively marks inhibitory dynorphin neurons in the spinal dorsal horn but is dispensable for pain and itch sensitivity. PMID:34296052
Seizure-mediated iron accumulation and dysregulated iron metabolism after status epilepticus and in temporal lobe epilepsy. PMID:34292399
Single-cell Long Non-coding RNA Landscape of T Cells in Human Cancer Immunity. PMID:34284134
Functional annotation of noncoding mutations in cancer. PMID:34282050
Splicing in the Diagnosis of Rare Disease: Advances and Challenges. PMID:34276790
Long Non-coding RNAs: Mechanisms, Experimental, and Computational Approaches in Identification, Characterization, and Their Biomarker Potential in Cancer. PMID:34276764
The circulatory small non-coding RNA landscape in community-acquired pneumonia on intensive care unit admission. PMID:34272809
Epithelial Splicing Regulatory Protein 1 Is Overexpressed in Breast Cancer and Predicts Poor Prognosis for Breast Cancer Patients. PMID:34262011
Comparing the Predictivity of Human Placental Gene, microRNA, and CpG Methylation Signatures in Relation to Perinatal Outcomes. PMID:34255065
DNA damage repair: historical perspectives, mechanistic pathways and clinical translation for targeted cancer therapy. PMID:34238917
Identification and validation of lncRNAs involved in m6A regulation for patients with ovarian cancer. PMID:34238292
A DNA methylation profile of long non-coding RNAs can predict OS in prostate cancer. PMID:34238128
Software Options for the Analysis of MS-Proteomic Data. PMID:34236654
EZH2-induced lysine K362 methylation enhances TMPRSS2-ERG oncogenic activity in prostate cancer. PMID:34230470
ACE2-lentiviral transduction enables mouse SARS-CoV-2 infection and mapping of receptor interactions. PMID:34214142
EGFR in Cancer: Signaling Mechanisms, Drugs, and Acquired Resistance. PMID:34206026
Predicting the Risk Genes of Autism Spectrum Disorders. PMID:34194469
Contribution of genetic and epigenetic changes to escape from X-chromosome inactivation. PMID:34187555
Single-cell analysis of mouse and human prostate reveals novel fibroblasts with specialized distribution and microenvironment interactions. PMID:34173975
Construction of lncRNA-Mediated ceRNA Network for Investigating Immune Pathogenesis of Ischemic Stroke. PMID:34173933
Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era. PMID:34165726
Pseudogene Profiling for Cancer Subtype Classification. PMID:34165723
GENCODE Pseudogenes. PMID:34165709
rigrag: high-resolution mapping of genic targeting preferences during HIV-1 integration in vitro and in vivo. PMID:34165568
KCNQ1OT1 lncRNA affects the proliferation, apoptosis, and chemoresistance of small cell lung cancer cells via the JAK2/STAT3 axis. PMID:34164525
Experimental Validation of the Noncoding Potential for lncRNAs. PMID:34160810
Probing the signaling requirements for naive human pluripotency by high-throughput chemical screening. PMID:34133938
Potential prognostic markers and significant lncRNA-mRNA co-expression pairs in laryngeal squamous cell carcinoma. PMID:34131588
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes. PMID:34127860
Comprehensive analysis of suppressor of cytokine signaling proteins in human breast Cancer. PMID:34120621
H2A.Z acetylation by lincZNF337-AS1 via KAT5 implicated in the transcriptional misregulation in cancer signaling pathway in hepatocellular carcinoma. PMID:34120148
CD27hiCD38hi plasmablasts are activated B cells of mixed origin with distinct function. PMID:34113823
Time trajectories in the transcriptomic response to exercise - a meta-analysis. PMID:34108459
Identification of DNA methylation biomarkers for risk of liver metastasis in early-stage colorectal cancer. PMID:34108011
A microRNA expression and regulatory element activity atlas of the mouse immune system. PMID:34099919
RNA structure probing reveals the structural basis of Dicer binding and cleavage. PMID:34099665
Multiple Omics Integration Reveals Key Circular RNAs in Hepatocellular Carcinoma. PMID:34094907
Bone marrow mesenchymal stem cells and their derived exosomes resolve doxorubicin-induced chemobrain: critical role of their miRNA cargo. PMID:34090498
Identification of 3'-UTR single nucleotide variants and prediction of select protein imbalance in mesial temporal lobe epilepsy patients. PMID:34086756
A panel of 8-lncRNA predicts prognosis of breast cancer patients and migration of breast cancer cells. PMID:34086679
An Informatics Pipeline for Profiling and Annotating RNA Modifications. PMID:34085236
Oncogenic Landscape of Somatic Mutations Perturbing Pan-Cancer lncRNA-ceRNA Regulation. PMID:34079798
The landscape and biological relevance of aberrant alternative splicing events in esophageal squamous cell carcinoma. PMID:34079089
Decoding LncRNAs. PMID:34072257
The Detection and Bioinformatic Analysis of Alternative 3' UTR Isoforms as Potential Cancer Biomarkers. PMID:34070203
HERV-K(HML7) Integrations in the Human Genome: Comprehensive Characterization and Comparative Analysis in Non-Human Primates. PMID:34069102
Human Endogenous Retroviruses (HERVs) and Mammalian Apparent LTRs Retrotransposons (MaLRs) Are Dynamically Modulated in Different Stages of Immunity. PMID:34062989
Long Non-coding RNA RUNDC3A-AS1 Promotes Lung Metastasis of Thyroid Cancer via Targeting the miR-182-5p/ADAM9. PMID:34046406
Pan-cancer characterization of long non-coding RNA and DNA methylation mediated transcriptional dysregulation. PMID:34044218
Lantern: an integrative repository of functional annotations for lncRNAs in the human genome. PMID:34039271
BRIO: a web server for RNA sequence and structure motif scan. PMID:34038531
Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis. PMID:34037083
Phenotypic plasticity underlies local invasion and distant metastasis in colon cancer. PMID:34036938
Selection of Optimal Bioinformatic Tools and Proper Reference for Reducing the Alignment Error in Targeted Sequencing Data. PMID:34026589
Interpretation of deep learning in genomics and epigenomics. PMID:34020542
Identity and compatibility of reference genome resources. PMID:34017945
Interpreting type 1 diabetes risk with genetics and single-cell epigenomics. PMID:34012112
Targeted RNA-seq improves efficiency, resolution, and accuracy of allele specific expression for human term placentas. PMID:34009305
Generation of an isoform-level transcriptome atlas of macrophage activation. PMID:34000296
Glucocorticoid signaling in pancreatic islets modulates gene regulatory programs and genetic risk of type 2 diabetes. PMID:33983929
Dynamic imaging of nascent RNA reveals general principles of transcription dynamics and stochastic splice site selection. PMID:33979654
Asymptomatic COVID-19: disease tolerance with efficient anti-viral immunity against SARS-CoV-2. PMID:33961735
Kidney Diseases: The Age of Molecular Markers. PMID:33959903
A Human Endogenous Bornavirus-Like Nucleoprotein Encodes a Mitochondrial Protein Associated with Cell Viability. PMID:33952640
Intergenic RNA mainly derives from nascent transcripts of known genes. PMID:33952325
Activation of HERV-K(HML-2) disrupts cortical patterning and neuronal differentiation by increasing NTRK3. PMID:33951478
Tumor necrosis factor-induced ArhGEF10 selectively activates RhoB contributing to human microvascular endothelial cell tight junction disruption. PMID:33948992
lncRNA PVT1 in the Pathogenesis and Clinical Management of Renal Cell Carcinoma. PMID:33947142
Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes. PMID:33945543
Transcriptome prediction performance across machine learning models and diverse ancestries. PMID:33937878
Topography of transcriptionally active chromatin in glioblastoma. PMID:33931443
Loss of RET Promotes Mesenchymal Identity in Neuroblastoma Cells. PMID:33921066
Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy. PMID:33911285
Identification of candidate PAX2-regulated genes implicated in human kidney development. PMID:33907292
Human brain region-specific variably methylated regions are enriched for heritability of distinct neuropsychiatric traits. PMID:33888138
The cis-regulatory effects of modern human-specific variants. PMID:33885362
Genomic Landscapes of Noncoding RNAs Regulating VEGFA and VEGFC Expression in Endothelial Cells. PMID:33875575
Conserved long-range base pairings are associated with pre-mRNA processing of human genes. PMID:33863890
A genome-wide atlas of co-essential modules assigns function to uncharacterized genes. PMID:33859415
Human KIT+ myeloid cells facilitate visceral metastasis by melanoma. PMID:33857287
A Transcription Start Site Map in Human Pancreatic Islets Reveals Functional Regulatory Signatures. PMID:33849996
Uncovering transcriptional dark matter via gene annotation independent single-cell RNA sequencing analysis. PMID:33846360
A large-scale genome-wide gene expression analysis in peripheral blood identifies very few differentially expressed genes related to antidepressant treatment and response in patients with major depressive disorder. PMID:33833401
The structure, function and evolution of a complete human chromosome 8. PMID:33828295
An extended catalogue of tandem alternative splice sites in human tissue transcriptomes. PMID:33826604
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. PMID:33824317
Vitamin D receptor upregulates lncRNA TOPORS-AS1 which inhibits the Wnt/β-catenin pathway and associates with favorable prognosis of ovarian cancer. PMID:33820921
Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters. PMID:33805976
CALINCA-A Novel Pipeline for the Identification of lncRNAs in Podocyte Disease. PMID:33804736
Differential Methylation in the GSTT1 Regulatory Region in Sudden Unexplained Death and Sudden Unexpected Death in Epilepsy. PMID:33801838
HIV-1 integration sites in CD4+ T cells during primary, chronic, and late presentation of HIV-1 infection. PMID:33784259
Evidence for additive and synergistic action of mammalian enhancers during cell fate determination. PMID:33770473
A transcription-centric model of SNP-age interaction. PMID:33770080
Neuronal enhancers are hotspots for DNA single-strand break repair. PMID:33767446
Aripiprazole as a Candidate Treatment of COVID-19 Identified Through Genomic Analysis. PMID:33762960
Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians. PMID:33747362
COX2 regulates senescence secretome composition and senescence surveillance through PGE2. PMID:33730589
Mutant non-coding RNA resource in mouse embryonic stem cells. PMID:33729986
Coronary artery disease: differential expression of ceRNAs and interaction analyses. PMID:33708856
Most non-canonical proteins uniquely populate the proteome or immunopeptidome. PMID:33691108
Day-night and seasonal variation of human gene expression across tissues. PMID:33688644
An intriguing characteristic of enhancer-promoter interactions. PMID:33685407
Genomic and Transcriptomic Analyses Reveals ZNF124 as a Critical Regulator in Highly Aggressive Medulloblastomas. PMID:33681213
Non-Coding RNAs in Retinoic Acid as Differentiation and Disease Drivers. PMID:33671241
RNA-Seq Implies Divergent Regulation Patterns of LincRNA on Spermatogenesis and Testis Growth in Goats. PMID:33653002
Human DNA methylation signatures differentiate persistent from resolving MRSA bacteremia. PMID:33649198
A potential association of RNF219-AS1 with ADHD: Evidence from categorical analysis of clinical phenotypes and from quantitative exploration of executive function and white matter microstructure endophenotypes. PMID:33644999
Genome-Wide Identification and Characterization of Potato Long Non-coding RNAs Associated With Phytophthora infestans Resistance. PMID:33643350
Potential Molecular Mechanism of TNF Superfamily-Related Genes in Glioblastoma Multiforme Based on Transcriptome and Epigenome. PMID:33643183
Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease. PMID:33637690
Identification and Characterisation of Putative Enhancer Elements in Mouse Embryonic Stem Cells. PMID:33623376
Annotation of chromatin states in 66 complete mouse epigenomes during development. PMID:33619351
Uniform genomic data analysis in the NCI Genomic Data Commons. PMID:33619257
Chromatin Looping Links Target Genes with Genetic Risk Loci for Dermatological Traits. PMID:33607115
Polycomb complexes redundantly maintain epidermal stem cell identity during development. PMID:33602871
Genetic Effects on Transcriptome Profiles in Colon Epithelium Provide Functional Insights for Genetic Risk Loci. PMID:33601062
CD4+ T cells from children with active juvenile idiopathic arthritis show altered chromatin features associated with transcriptional abnormalities. PMID:33597588
Novel DNA methylation signatures of tobacco smoking with trans-ethnic effects. PMID:33593402
CIITA-Transduced Glioblastoma Cells Uncover a Rich Repertoire of Clinically Relevant Tumor-Associated HLA-II Antigens. PMID:33592498
Identification of Functional lncRNAs Associated With Ovarian Endometriosis Based on a ceRNA Network. PMID:33584822
Novel insights into the interaction between long non-coding RNAs and microRNAs in glioma. PMID:33582947
PRMT5 inhibition disrupts splicing and stemness in glioblastoma. PMID:33579912
Benchmark study comparing liftover tools for genome conversion of epigenome sequencing data. PMID:33575605
Alterations of 5-hydroxymethylation in circulating cell-free DNA reflect molecular distinctions of subtypes of non-Hodgkin lymphoma. PMID:33574286
Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment. PMID:33574182
Eight-lncRNA signature of cervical cancer were identified by integrating DNA methylation, copy number variation and transcriptome data. PMID:33557879
Role of Transposable Elements in Gene Regulation in the Human Genome. PMID:33557056
Inhibitory effect of sodium butyrate on colorectal cancer cells and construction of the related molecular network. PMID:33549042
Biphasic Activation of WNT Signaling Facilitates the Derivation of Midbrain Dopamine Neurons from hESCs for Translational Use. PMID:33545081
Dual functions of SPOP and ERG dictate androgen therapy responses in prostate cancer. PMID:33531470
Consequences of aneuploidy in human fibroblasts with trisomy 21. PMID:33526671
Competing endogenous RNA network analysis explores the key lncRNAs, miRNAs, and mRNAs in type 1 diabetes. PMID:33526014
MicroRNA Profiles in Monocyte-Derived Macrophages Generated by Interleukin-27 and Human Serum: Identification of a Novel HIV-Inhibiting and Autophagy-Inducing MicroRNA. PMID:33525571
Integrating quantitative proteomics with accurate genome profiling of transcription factors by greenCUT&RUN. PMID:33524153
Gene expression signatures of target tissues in type 1 diabetes, lupus erythematosus, multiple sclerosis, and rheumatoid arthritis. PMID:33523973
Identification of Potential Prognostic Competing Triplets in High-Grade Serous Ovarian Cancer. PMID:33519912
Long Non-Coding RNA FENDRR: Gene Structure, Expression, and Biological Relevance. PMID:33513839
Cell-to-Cell Adhesion and Neurogenesis in Human Cortical Development: A Study Comparing 2D Monolayers with 3D Organoid Cultures. PMID:33513360
Inferring time series chromatin states for promoter-enhancer pairs based on Hi-C data. PMID:33509077
Systematic analysis of binding of transcription factors to noncoding variants. PMID:33505025
Detection of aberrant splicing events in RNA-seq data using FRASER. PMID:33483494
Transcriptome network analyses in human coronavirus infections suggest a rational use of immunomodulatory drugs for COVID-19 therapy. PMID:33482326
A novel five-lncRNA signature panel improves high-risk survival prediction in patients with cholangiocarcinoma. PMID:33472169
Compression of quantification uncertainty for scRNA-seq counts. PMID:33471073
A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain. PMID:33469025
Long Non-Coding RNAs and Their Potential Roles in the Vector-Host-Pathogen Triad. PMID:33466803
Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk. PMID:33462483
DeepLPI: a multimodal deep learning method for predicting the interactions between lncRNAs and protein isoforms. PMID:33461501
PacBio full-length transcriptome of wild apple (Malus sieversii) provides insights into canker disease dynamic response. PMID:33446096
Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease. PMID:33441415
Injection site vaccinology of a recombinant vaccinia-based vector reveals diverse innate immune signatures. PMID:33439897
Longitudinal saliva omics responses to immune perturbation: a case study. PMID:33436912
Differential contribution of transcriptomic regulatory layers in the definition of neuronal identity. PMID:33436550
The Functions and Unique Features of LncRNAs in Cancer Development and Tumorigenesis. PMID:33435206
Multi-trait transcriptome-wide association studies with probabilistic Mendelian randomization. PMID:33434493
Smc3 dosage regulates B cell transit through germinal centers and restricts their malignant transformation. PMID:33432228
Induced organoids derived from patients with ulcerative colitis recapitulate colitic reactivity. PMID:33431859
Diabetes induced renal complications by leukocyte activation of nuclear factor κ-B and its regulated genes expression. PMID:33424337
Comprehensive characterisation of intronic mis-splicing mutations in human cancers. PMID:33420369
A cross-platform approach identifies genetic regulators of human metabolism and health. PMID:33414548
ALK ligand ALKAL2 potentiates MYCN-driven neuroblastoma in the absence of ALK mutation. PMID:33411331
Genome-wide identification and characterization of long non-coding RNAs conferring resistance to Colletotrichum gloeosporioides in walnut (Juglans regia). PMID:33407106
Unbiased RNA-Seq-driven identification and validation of reference genes for quantitative RT-PCR analyses of pooled cancer exosomes. PMID:33407103
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. PMID:33402679
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer. PMID:33402335
TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons. PMID:33393505
Transcriptomic analysis identifies a tumor subtype mRNA classifier for invasive non-functioning pituitary neuroendocrine tumor diagnostics. PMID:33391466
Identification of Critical Genes and Proteins for Stent Restenosis Induced by Esophageal Benign Hyperplasia in Esophageal Cancer. PMID:33391336
Pressure-Driven Mitochondrial Transfer Pipeline Generates Mammalian Cells of Desired Genetic Combinations and Fates. PMID:33378680
Common cell type nomenclature for the mammalian brain. PMID:33372656
Sex and age influence gonadal steroid hormone receptor distributions relative to estrogen receptor β-containing neurons in the mouse hypothalamic paraventricular nucleus. PMID:33341960
Single cell analysis reveals distinct immune landscapes in transplant and primary sarcomas that determine response or resistance to immunotherapy. PMID:33335088
FAN-C: a feature-rich framework for the analysis and visualisation of chromosome conformation capture data. PMID:33334380
AnnoLnc: A One-Stop Portal to Systematically Annotate Novel Human Long Noncoding RNAs. PMID:33326073
Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis. PMID:33320851
Liftoff: accurate mapping of gene annotations. PMID:33320174
Functional interaction between long non-coding RNA and microRNA in rheumatoid arthritis. PMID:33319382
The computational approaches of lncRNA identification based on coding potential: Status quo and challenges. PMID:33304463
Our emerging understanding of the roles of long non-coding RNAs in normal liver function, disease, and malignancy. PMID:33294829
MicroRNA expression data of pluripotent and somatic cells and identification of cell type-specific MicroRNAs in pigs. PMID:33294536
CoolMPS: evaluation of antibody labeling based massively parallel non-coding RNA sequencing. PMID:33290507
Screening of T Cell-Related Long Noncoding RNA-MicroRNA-mRNA Regulatory Networks in Non-Small-Cell Lung Cancer. PMID:33274216
Immune-Related Four-lncRNA Signature for Patients with Cervical Cancer. PMID:33274204
GENCODE 2021. PMID:33270111
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias. PMID:33263113
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. PMID:33261662
Improvement of Disease Resistance in Livestock: Application of Immunogenomics and CRISPR/Cas9 Technology. PMID:33260762
Genomic and transcriptomic alterations associated with drug vulnerabilities and prognosis in adenocarcinoma at the gastroesophageal junction. PMID:33257699
Serum RNA Profiling in the 10-Years Period Prior to Diagnosis of Testicular Germ Cell Tumor. PMID:33251139
ProTECT-Prediction of T-Cell Epitopes for Cancer Therapy. PMID:33244314
NAIL: an evolutionarily conserved lncRNA essential for licensing coordinated activation of p38 and NFκB in colitis. PMID:33239342
Global transcriptomic profiling of microcystin-LR or -RR treated hepatocytes (HepaRG). PMID:33235993
An integrative atlas of chicken long non-coding genes and their annotations across 25 tissues. PMID:33235280
A Detailed Flow Cytometric Analysis of Immune Activity Profiles in Molecular Subtypes of Colorectal Cancer. PMID:33228141
Molecular Features of Cancers Exhibiting Exceptional Responses to Treatment. PMID:33217343
Atypical UV Photoproducts Induce Non-canonical Mutation Classes Associated with Driver Mutations in Melanoma. PMID:33207206
Genome-Wide Identification of Long Non-coding RNAs in the Gravid Ectoparasite Varroa destructor. PMID:33193688
Plant miRNAs Reduce Cancer Cell Proliferation by Targeting MALAT1 and NEAT1: A Beneficial Cross-Kingdom Interaction. PMID:33193626
Proteoform Identification by Combining RNA-Seq and Top-Down Mass Spectrometry. PMID:33183009
Integrated analysis of transcriptomic and metabolomic data demonstrates the significant role of pyruvate carboxylase in the progression of ovarian cancer. PMID:33177242
deepBase v3.0: expression atlas and interactive analysis of ncRNAs from thousands of deep-sequencing data. PMID:33175131
Transcriptional analysis of metastatic uveal melanoma survival nominates NRP1 as a therapeutic target. PMID:33170593
SVFX: a machine learning framework to quantify the pathogenicity of structural variants. PMID:33168059
Prediction of enhancer-promoter interactions using the cross-cell type information and domain adversarial neural network. PMID:33160328
Towards a better understanding of the low recall of insertion variants with short-read based variant callers. PMID:33148192
Cross-resistance of cisplatin selected cells to anti-microtubule agents: Role of general survival mechanisms. PMID:33129114
Long non-coding RNAs (lncRNAs) in spermatogenesis and male infertility. PMID:33126901
Illuminating the dark side of the human transcriptome with long read transcript sequencing. PMID:33126848
A small protein encoded by a putative lncRNA regulates apoptosis and tumorigenicity in human colorectal cancer cells. PMID:33112233
mTOR-dependent translation amplifies microglia priming in aging mice. PMID:33108356
Combined genetic analysis of juvenile idiopathic arthritis clinical subtypes identifies novel risk loci, target genes and key regulatory mechanisms. PMID:33106285
LncRNAs in adaptive immunity: role in physiological and pathological conditions. PMID:33094664
PLA2G6 guards placental trophoblasts against ferroptotic injury. PMID:33087576
Network-Based Coexpression Analysis Identifies Functional and Prognostic Long Noncoding RNAs in Hepatocellular Carcinoma. PMID:33083449
Retinoic Acid Sensitivity of Triple-Negative Breast Cancer Cells Characterized by Constitutive Activation of the notch1 Pathway: The Role of Rarβ. PMID:33081033
Metformin alters skeletal muscle transcriptome adaptations to resistance training in older adults. PMID:33071237
Host gene expression modulated by Zika virus infection of human-293 cells. PMID:33059318
An enhanced genetic model of relapsed IGH-translocated multiple myeloma evolutionary dynamics. PMID:33057009
Pan-cancer analysis reveals TAp63-regulated oncogenic lncRNAs that promote cancer progression through AKT activation. PMID:33056990
A systematic evaluation of bioinformatics tools for identification of long noncoding RNAs. PMID:33055239
Identification of male infertility-related long non-coding RNAs and their functions based on a competing endogenous RNA network. PMID:33054493
LncExpDB: an expression database of human long non-coding RNAs. PMID:33045751
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D. PMID:32999275
Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures. PMID:32997669
Long noncoding RNA AANCR modulates innate antiviral responses by blocking miR-210-dependent MITA downregulation in teleost fish, Miichthys miiuy. PMID:32997329
Targeted Inhibition of the NUP98-NSD1 Fusion Oncogene in Acute Myeloid Leukemia. PMID:32993115
Swan: a library for the analysis and visualization of long-read transcriptomes. PMID:32991665
Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism. PMID:32978376
Long non-coding RNA AGAP2-AS1 increases the invasiveness of papillary thyroid cancer. PMID:32960785
PRAM: a novel pooling approach for discovering intergenic transcripts from large-scale RNA sequencing experiments. PMID:32958497
IDH1/2 mutations in acute myeloid leukemia patients and risk of coronary artery disease and cardiac dysfunction-a retrospective propensity score analysis. PMID:32948843
Network analysis of KLF5 targets showing the potential oncogenic role of SNHG12 in colorectal cancer. PMID:32943987
The Landscape of Micro-Inversions Provide Clues for Population Genetic Analysis of Humans. PMID:32929667
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders. PMID:32917675
A Quantitative Proteome Map of the Human Body. PMID:32916130
Scavenger: A pipeline for recovery of unaligned reads utilising similarity with aligned reads. PMID:32913631
A polyclonal allelic expression assay for detecting regulatory effects of transcript variants. PMID:32912286
Identification and Characterization of Copy Number-Associated Driver Genes in Esophageal Squamous Cell Carcinoma. PMID:32908901
A role for microRNAs in the epigenetic control of sexually dimorphic gene expression in the human placenta. PMID:32901510
p53 drives a transcriptional program that elicits a non-cell-autonomous response and alters cell state in vivo. PMID:32900967
Radiation induces dynamic changes to the T cell repertoire in renal cell carcinoma patients. PMID:32900949
Three-dimensional facial-image analysis to predict heterogeneity of the human ageing rate and the impact of lifestyle. PMID:32895578
Roles of miRNA and lncRNA in triple-negative breast cancer. PMID:32893525
Genome-wide identification of differentially methylated promoters and enhancers associated with response to anti-PD-1 therapy in non-small cell lung cancer. PMID:32879421
Long non-coding RNA CASC8 polymorphisms are associated with the risk of esophageal cancer in a Chinese population. PMID:32875717
The genomic landscape of Mongolian hepatocellular carcinoma. PMID:32873799
Genome-wide analysis of long non-coding RNAs in adult tissues of the melon fly, Zeugodacus cucurbitae (Coquillett). PMID:32867696
Learning the properties of adaptive regions with functional data analysis. PMID:32853200
Genome-Wide Transcriptional Analysis Reveals Alternative Splicing Event Profiles in Hepatocellular Carcinoma and Their Prognostic Significance. PMID:32849842
Systematic Evaluation of the Diagnostic and Prognostic Significance of Competitive Endogenous RNA Networks in Prostate Cancer. PMID:32849794
Identifying Circular RNA and Predicting Its Regulatory Interactions by Machine Learning. PMID:32849764
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. PMID:32839606
Daxx maintains endogenous retroviral silencing and restricts cellular plasticity in vivo. PMID:32821827
Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. PMID:32810435
Concentration-dependent splicing is enabled by Rbfox motifs of intermediate affinity. PMID:32807990
Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance. PMID:32800095
Ybx1 fine-tunes PRC2 activities to control embryonic brain development. PMID:32792512
circRNAome Profiling in Oral Carcinoma Unveils a Novel circFLNB that Mediates Tumour Growth-Regulating Transcriptional Response. PMID:32785098
Splicing Anomalies in Myeloproliferative Neoplasms: Paving the Way for New Therapeutic Venues. PMID:32784800
The role of exome sequencing in newborn screening for inborn errors of metabolism. PMID:32778825
The Long Non-coding Road to Atherosclerosis. PMID:32772181
CD163+ cytokine-producing cDC2 stimulate intratumoral type 1 T cell responses in HPV16-induced oropharyngeal cancer. PMID:32771994
Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders. PMID:32764605
Demystifying "drop-outs" in single-cell UMI data. PMID:32762710
Comprehensive Network Analysis Reveals Alternative Splicing-Related lncRNAs in Hepatocellular Carcinoma. PMID:32760422
A limited set of transcriptional programs define major cell types. PMID:32759341
Tousled-Like Kinases Suppress Innate Immune Signaling Triggered by Alternative Lengthening of Telomeres. PMID:32755577
LncRNA AY343892 inhibits breast cancer development by positively regulating BRCA1-mediated transcription of PTEN. PMID:32754899
MYBPC3 Haplotype Linked to Hypertrophic Cardiomyopathy in Rhesus Macaques (Macaca mulatta). PMID:32753092
Identification of the key genes and characterizations of Tumor Immune Microenvironment in Lung Adenocarcinoma (LUAD) and Lung Squamous Cell Carcinoma (LUSC). PMID:32742444
Supervised enhancer prediction with epigenetic pattern recognition and targeted validation. PMID:32737473
Testing and controlling for horizontal pleiotropy with probabilistic Mendelian randomization in transcriptome-wide association studies. PMID:32737316
Methodologies for Transcript Profiling Using Long-Read Technologies. PMID:32733532
Improving the diversity of captured full-length isoforms using a normalized single-molecule RNA-sequencing method. PMID:32732980
Perspectives on ENCODE. PMID:32728248
Spatiotemporal DNA methylome dynamics of the developing mouse fetus. PMID:32728242
An atlas of dynamic chromatin landscapes in mouse fetal development. PMID:32728240
Transcriptional activity and strain-specific history of mouse pseudogenes. PMID:32728065
RADAR: annotation and prioritization of variants in the post-transcriptional regulome of RNA-binding proteins. PMID:32727537
HOTTIP polymorphism may affect gastric cancer susceptibility by altering HOTTIP expression. PMID:32725141
Placental genomic and epigenomic signatures associated with infant birth weight highlight mechanisms involved in collagen and growth factor signaling. PMID:32721520
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B. PMID:32716134
Altered Long Noncoding RNA Expression Profile in Multiple Myeloma Patients with Bisphosphonate-Induced Osteonecrosis of the Jaw. PMID:32714991
The Heterogeneous Landscape and Early Evolution of Pathogen-Associated CpG Dinucleotides in SARS-CoV-2. PMID:32714120
The RNA exosome shapes the expression of key protein-coding genes. PMID:32710631
Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas. PMID:32703790
Comprehensive Analysis of Differentially Expressed lncRNAs in Gastric Cancer. PMID:32695786
Genetic architecture of complex traits and disease risk predictors. PMID:32694572
Reference genome and transcriptome informed by the sex chromosome complement of the sample increase ability to detect sex differences in gene expression from RNA-Seq data. PMID:32693839
The long non-coding RNA HLNC1 potentiates hepatocellular carcinoma progression via interaction with USP49. PMID:32691951
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. PMID:32686750
Long noncoding RNA MARL regulates antiviral responses through suppression miR-122-dependent MAVS downregulation in lower vertebrates. PMID:32678830
RNA-Seq Transcriptome Analysis Reveals Long Terminal Repeat Retrotransposon Modulation in Human Peripheral Blood Mononuclear Cells after In Vivo Lipopolysaccharide Injection. PMID:32669333
Modeling Secondary Iron Overload Cardiomyopathy with Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. PMID:32668256
Systematic Characterization of Recurrent Genomic Alterations in Cyclin-Dependent Kinases Reveals Potential Therapeutic Strategies for Cancer Treatment. PMID:32668240
Unified inference of missense variant effects and gene constraints in the human genome. PMID:32667917
Total Functional Score of Enhancer Elements Identifies Lineage-Specific Enhancers That Drive Differentiation of Pancreatic Cells. PMID:32655276
Chromosome-level de novo assembly of the pig-tailed macaque genome using linked-read sequencing and HiC proximity scaffolding. PMID:32649757
Macrocyclization of a Ligand Targeting a Toxic RNA Dramatically Improves Potency. PMID:32649032
DrugSniper, a Tool to Exploit Loss-Of-Function Screens, Identifies CREBBP as a Predictive Biomarker of VOLASERTIB in Small Cell Lung Carcinoma (SCLC). PMID:32645997
miR-7 Reduces Breast Cancer Stem Cell Metastasis via Inhibiting RELA to Decrease ESAM Expression. PMID:32637582
Characterization of cell-free breast cancer patient-derived scaffolds using liquid chromatography-mass spectrometry/mass spectrometry data and RNA sequencing data. PMID:32637480
Network of clinically-relevant lncRNAs-mRNAs associated with prognosis of hepatocellular carcinoma patients. PMID:32636408
Impact of Losing hRpn13 Pru or UCHL5 on Proteasome Clearance of Ubiquitinated Proteins and RA190 Cytotoxicity. PMID:32631902
Bioinformatic analysis of the potential molecular mechanism of PAK7 expression in glioblastoma. PMID:32626960
Germline de novo mutation rates on exons versus introns in humans. PMID:32620809
Insights into lncRNAs in Alzheimer's disease mechanisms. PMID:32605500
Quantification of translation uncovers the functions of the alternative transcriptome. PMID:32601440
Co-administration of 5α-reductase Inhibitors Worsens the Adverse Metabolic Effects of Prescribed Glucocorticoids. PMID:32594135
Long non-coding RNA profiling of pediatric Medulloblastoma. PMID:32591022
Deletion of Glutathione S-Transferase Omega 1 Activates Type I Interferon Genes and Downregulates Tissue Factor. PMID:32571799
The Long Noncoding RNA NEAT1 Promotes Sarcoma Metastasis by Regulating RNA Splicing Pathways. PMID:32561656
Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs. PMID:32558197
Inferring changes in histone modification during cell differentiation by ancestral state estimation based on phylogenetic trees of cell types: Human hematopoiesis as a model case. PMID:32550550
Long Noncoding RNAs in Diffuse Large B-Cell Lymphoma: Current Advances and Perspectives. PMID:32547063
Weighted Gene Coexpression Network Analysis Reveals the Dynamic Transcriptome Regulation and Prognostic Biomarkers of Hepatocellular Carcinoma. PMID:32523331
Properties of structural variants and short tandem repeats associated with gene expression and complex traits. PMID:32522982
WHSC1 monomethylates histone H1 and induces stem-cell like features in squamous cell carcinoma of the head and neck. PMID:32497898
Genomic analyses of early responses to radiation inglioblastoma reveal new alterations at transcription,splicing, and translation levels. PMID:32488114
The lncRNA RUNX1-IT1 regulates C-FOS transcription by interacting with RUNX1 in the process of pancreatic cancer proliferation, migration and invasion. PMID:32487998
The Impact of Recessive Deleterious Variation on Signals of Adaptive Introgression in Human Populations. PMID:32487519
Hypermethylation of the miR-155 gene in the whole blood and decreased plasma level of miR-155 in rheumatoid arthritis. PMID:32484820
Skeletal muscle enhancer interactions identify genes controlling whole-body metabolism. PMID:32483258
Dynamic TF-lncRNA Regulatory Networks Revealed Prognostic Signatures in the Development of Ovarian Cancer. PMID:32478062
Frequent upregulation of G9a promotes RelB-dependent proliferation and survival in multiple myeloma. PMID:32477831
Discovery of a transcriptomic core of genes shared in 8 primary retinoblastoma with a novel detection score analysis. PMID:32474753
Age-dependent effect of APOE and polygenic component on Alzheimer's disease. PMID:32464432
HOTTIP Predicts Poor Survival in Gastric Cancer Patients and Contributes to Cisplatin Resistance by Sponging miR-216a-5p. PMID:32457911
Geminin is required for Hox gene regulation to pattern the developing limb. PMID:32450229
SNHG7 is a lncRNA oncogene controlled by Insulin-like Growth Factor signaling through a negative feedback loop to tightly regulate proliferation. PMID:32444795
miRactDB characterizes miRNA-gene relation switch between normal and cancer tissues across pan-cancer. PMID:32436932
Progress, Challenges, and Surprises in Annotating the Human Genome. PMID:32421357
Codon usage similarity between viral and some host genes suggests a codon-specific translational regulation. PMID:32395662
ORF Capture-Seq as a versatile method for targeted identification of full-length isoforms. PMID:32393825
Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations. PMID:32393163
Identification of Key Players Involved in CoCl2 Hypoxia Induced Pulmonary Artery Hypertension in vitro. PMID:32391042
All-Trans Retinoic Acid Stimulates Viral Mimicry, Interferon Responses and Antigen Presentation in Breast-Cancer Cells. PMID:32384653
A human lung tumor microenvironment interactome identifies clinically relevant cell-type cross-talk. PMID:32381040
Comprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma. PMID:32359397
Long non-coding RNA RAMS11 promotes metastatic colorectal cancer progression. PMID:32358485
Blood-based biomarkers for early detection of esophageal squamous cell carcinoma. PMID:32351288
CircAtlas: an integrated resource of one million highly accurate circular RNAs from 1070 vertebrate transcriptomes. PMID:32345360
Comprehensive Analysis of HERV Transcriptome in HIV+ Cells: Absence of HML2 Activation and General Downregulation of Individual HERV Loci. PMID:32340287
The Construction and Analysis of the Aberrant lncRNA-miRNA-mRNA Network in Adipose Tissue from Type 2 Diabetes Individuals with Obesity. PMID:32337289
Myogenic Progenitor Cell Lineage Specification by CRISPR/Cas9-Based Transcriptional Activators. PMID:32330446
Predicting target genes of non-coding regulatory variants with IRT. PMID:32330225
O-GlcNAc regulates gene expression by controlling detained intron splicing. PMID:32329777
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa. PMID:32326576
STAT3-dependent analysis reveals PDK4 as independent predictor of recurrence in prostate cancer. PMID:32323921
Detection of Allosteric Effects of lncRNA Secondary Structures Altered by SNPs in Human Diseases. PMID:32322582
Genome‑wide DNA methylation regulation analysis of long non‑coding RNAs in glioblastoma. PMID:32319552
Effect for Human Genomic Variation During the BMP4-Induced Conversion From Pluripotent Stem Cells to Trophoblast. PMID:32318089
Complete characterization of the human immune cell transcriptome using accurate full-length cDNA sequencing. PMID:32312742
Leveraging gene co-expression patterns to infer trait-relevant tissues in genome-wide association studies. PMID:32310941
DolphinNext: a distributed data processing platform for high throughput genomics. PMID:32306927
Dermal Adipocyte Lipolysis and Myofibroblast Conversion Are Required for Efficient Skin Repair. PMID:32302523
Ex Vivo Organoid Cultures Reveal the Importance of the Tumor Microenvironment for Maintenance of Colorectal Cancer Stem Cells. PMID:32290033
Misuse of RPKM or TPM normalization when comparing across samples and sequencing protocols. PMID:32284352
Comparability of the small RNA secretome across human biofluids concomitantly collected from healthy adults. PMID:32275679
Modulator-Dependent RBPs Changes Alternative Splicing Outcomes in Kidney Cancer. PMID:32273884
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. PMID:32268104
Differences in gene-expression profiles in breast cancer between African and European-ancestry women. PMID:32267939
The UCSC repeat browser allows discovery and visualization of evolutionary conflict across repeat families. PMID:32266012
Identification of Autophagy-Associated Biomarkers and Corresponding Regulatory Factors in the Progression of Colorectal Cancer. PMID:32265986
Lats1/2 Sustain Intestinal Stem Cells and Wnt Activation through TEAD-Dependent and Independent Transcription. PMID:32259481
Integrative Analysis of NSCLC Identifies LINC01234 as an Oncogenic lncRNA that Interacts with HNRNPA2B1 and Regulates miR-106b Biogenesis. PMID:32246902
The Emerging Role of ncRNAs and RNA-Binding Proteins in Mitotic Apparatus Formation. PMID:32245090
A genomic and epigenomic atlas of prostate cancer in Asian populations. PMID:32238934
U1 snRNP regulates chromatin retention of noncoding RNAs. PMID:32238924
Tumor suppressor and oncogenic role of long non-coding RNAs in cancer. PMID:32232211
Genomic and Transcriptomic Analysis Identified Novel Putative Cassava lncRNAs Involved in Cold and Drought Stress. PMID:32231066
dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions. PMID:32227657
Long noncoding RNA LINC00844-mediated molecular network regulates expression of drug metabolizing enzymes and nuclear receptors in human liver cells. PMID:32222775
Evidence of constraint in the 3D genome for trans-splicing in human cells. PMID:32221814
Genetic Architecture of Gene Expression in European and African Americans: An eQTL Mapping Study in GENOA. PMID:32220292
CLING: Candidate Cancer-Related lncRNA Prioritization via Integrating Multiple Biological Networks. PMID:32211391
DNA methylation disruption reshapes the hematopoietic differentiation landscape. PMID:32203468
An autoinhibitory intramolecular interaction proof-reads RNA recognition by the essential splicing factor U2AF2. PMID:32188783
RUNX1 and RUNX2 transcription factors function in opposing roles to regulate breast cancer stem cells. PMID:32180230
MoAIMS: efficient software for detection of enriched regions of MeRIP-Seq. PMID:32171255
COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis. PMID:32165660
Identification of lncRNA-associated differential subnetworks in oesophageal squamous cell carcinoma by differential co-expression analysis. PMID:32164040
Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients. PMID:32163234
Beyond classic editing: innovative CRISPR approaches for functional studies of long non-coding RNA. PMID:32161809
Targeting MYCN-expressing triple-negative breast cancer with BET and MEK inhibitors. PMID:32161105
Integrated proteogenomic deep sequencing and analytics accurately identify non-canonical peptides in tumor immunopeptidomes. PMID:32157095
Men1 maintains exocrine pancreas homeostasis in response to inflammation and oncogenic stress. PMID:32156729
Differential expression analysis comparing EBV uninfected to infected human cell lines identifies induced non-micro small non-coding RNAs. PMID:32154466
The X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage. PMID:32152280
MiR-7 reduces the BCSC subset by inhibiting XIST to modulate the miR-92b/Slug/ESA axis and inhibit tumor growth. PMID:32143670
Graph embedding and unsupervised learning predict genomic sub-compartments from HiC chromatin interaction data. PMID:32127534
Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons. PMID:32126975
Long Non-Coding RNA H19 Promotes Porcine Satellite Cell Differentiation by Interacting with TDP43. PMID:32121115
Inferring lncRNA Functional Similarity Based on Integrating Heterogeneous Network Data. PMID:32117916
PAX1 is essential for development and function of the human thymus. PMID:32111619
Single-cell transcriptome analysis reveals TOX as a promoting factor for T cell exhaustion and a predictor for anti-PD-1 responses in human cancer. PMID:32111241
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length. PMID:32109421
Candidate silencer elements for the human and mouse genomes. PMID:32103011
Pathway-guided analysis identifies Myc-dependent alternative pre-mRNA splicing in aggressive prostate cancers. PMID:32086391
Passenger Mutations in More Than 2,500 Cancer Genomes: Overall Molecular Functional Impact and Consequences. PMID:32084333
PVT1 Long Non-coding RNA in Gastrointestinal Cancer. PMID:32083000
A lncRNA survey finds increases in neuroprotective LINC-PINT in Parkinson's disease substantia nigra. PMID:32080970
Skeletal Muscle Regeneration in Advanced Diabetic Peripheral Neuropathy. PMID:32059624
Exploration of databases and methods supporting drug repurposing: a comprehensive survey. PMID:32055842
A living biobank of ovarian cancer ex vivo models reveals profound mitotic heterogeneity. PMID:32054838
Novel Mutation Hotspots within Non-Coding Regulatory Regions of the Chronic Lymphocytic Leukemia Genome. PMID:32051441
Derivation of trophoblast stem cells from naïve human pluripotent stem cells. PMID:32048992
Variations and expression features of CYP2D6 contribute to schizophrenia risk. PMID:32047265
Chromatin-enriched RNAs mark active and repressive cis-regulation: An analysis of nuclear RNA-seq. PMID:32040509
CLEAR: coverage-based limiting-cell experiment analysis for RNA-seq. PMID:32039730
Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage. PMID:32029882
Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures. PMID:32029221
Integrative prediction of gene expression with chromatin accessibility and conformation data. PMID:32029002
Genomic basis for RNA alterations in cancer. PMID:32025019
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. PMID:32025015
Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis. PMID:32024996
Combined burden and functional impact tests for cancer driver discovery using DriverPower. PMID:32024818
Genomic footprints of activated telomere maintenance mechanisms in cancer. PMID:32024817
Multiplatform Molecular Profiling Reveals Epigenomic Intratumor Heterogeneity in Ependymoma. PMID:32023450
Progress in understanding the relationship between long noncoding RNA and endometriosis. PMID:32021971
Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells. PMID:31996360
Refgenie: a reference genome resource manager. PMID:31995185
Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells. PMID:31992716
Functional and transcriptomic characterization of cisplatin-resistant AGS and MKN-28 gastric cancer cell lines. PMID:31990955
Whole-genome fingerprint of the DNA methylome during chemically induced differentiation of the human AML cell line HL-60/S4. PMID:31988093
Effect of eleutheroside B1 on non‑coding RNAs and protein profiles of influenza A virus‑infected A549 cells. PMID:31985023
Single-cell transcriptomics from human pancreatic islets: sample preparation matters. PMID:31984226
Reducing the structure bias of RNA-Seq reveals a large number of non-annotated non-coding RNA. PMID:31980822
Transcriptional analysis of THP-1 cells infected with Leishmania infantum indicates no activation of the inflammasome platform. PMID:31961876
Up-regulated LINC01234 promotes non-small-cell lung cancer cell metastasis by activating VAV3 and repressing BTG2 expression. PMID:31959200
Epigenetic plasticity of enhancers in cancer. PMID:31944157
YB-3 substitutes YB-1 in global mRNA binding. PMID:31944153
Targeting the Oncogenic Long Non-coding RNA SLNCR1 by Blocking Its Sequence-Specific Binding to the Androgen Receptor. PMID:31940495
Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing. PMID:31940362
Hepatic Tumor Formation in Adult Mice Developmentally Exposed to Organotin. PMID:31939706
Differential functional roles of fibroblasts and pericytes in the formation of tissue-engineered microvascular networks in vitro. PMID:31934351
miR-373 inhibits nasopharyngeal carcinoma cell migration and invasion by targeting MARCH5. PMID:31934093
Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages. PMID:31913118
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. PMID:31911677
Non-coding RNAs underlie genetic predisposition to breast cancer. PMID:31910864
Profiling of lincRNAs in human pluripotent stem cell derived forebrain neural progenitor cells. PMID:31909251
When Long Noncoding Becomes Protein Coding. PMID:31907280
LINC01714 Enhances Gemcitabine Sensitivity by Modulating FOXO3 Phosphorylation in Cholangiocarcinoma. PMID:31902744
Uncovering Biological Factors That Regulate Hepatocellular Carcinoma Growth Using Patient-Derived Xenograft Assays. PMID:31899548
In silico identification of EP400 and TIA1 as critical transcription factors involved in human hepatocellular carcinoma relapse. PMID:31897208
Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons. PMID:31893020
Learning distributed representations of RNA and protein sequences and its application for predicting lncRNA-protein interactions. PMID:31890140
A network view of microRNA and gene interactions in different pathological stages of colon cancer. PMID:31888617
Discovering Rare Genes Contributing to Cancer Stemness and Invasive Potential by GBM Single-Cell Transcriptional Analysis. PMID:31888172
Circ_MDM2_000139, Circ_ATF2_001418, Circ_CDC25C_002079, and Circ_BIRC6_001271 Are Involved in the Functions of XAV939 in Non-Small Cell Lung Cancer. PMID:31885751
Small noncoding RNA discovery and profiling with sRNAtools based on high-throughput sequencing. PMID:31885040
Deep sequencing and automated histochemistry of human tissue slice cultures improve their usability as preclinical model for cancer research. PMID:31882946
Deep mixed model for marginal epistasis detection and population stratification correction in genome-wide association studies. PMID:31881907
Predicted Archaic 3D Genome Organization Reveals Genes Related to Head and Spinal Cord Separating Modern from Archaic Humans. PMID:31878147
Targeted sequencing of the LRRTM gene family in suicide attempters with bipolar disorder. PMID:31854516
Integrative analyses of noncoding RNAs reveal the potential mechanisms augmenting tumor malignancy in lung adenocarcinoma. PMID:31853539
A 10-year prediagnostic follow-up study shows that serum RNA signals are highly dynamic in lung carcinogenesis. PMID:31851411
RHPCG: a database of the Regulation of the Hippo Pathway in Cancer Genome. PMID:31848596
Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania. PMID:31844061
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas. PMID:31834371
A developmental landscape of 3D-cultured human pre-gastrulation embryos. PMID:31830756
Nonequilibrium Biophysical Processes Influence the Large-Scale Architecture of the Cell Nucleus. PMID:31818465
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. PMID:31814998
GraphClust2: Annotation and discovery of structured RNAs with scalable and accessible integrative clustering. PMID:31808801
The distributions of protein coding genes within chromatin domains in relation to human disease. PMID:31805995
miR-181c Activates Mitochondrial Calcium Uptake by Regulating MICU1 in the Heart. PMID:31801413
Subendothelial stiffness alters endothelial cell traction force generation while exerting a minimal effect on the transcriptome. PMID:31796790
Meglumine acridone acetate, the ionic salt of CMA and N-methylglucamine, induces apoptosis in human PBMCs via the mitochondrial pathway. PMID:31796757
Multimodal Long Noncoding RNA Interaction Networks: Control Panels for Cell Fate Specification. PMID:31796550
Causal association of type 2 diabetes with amyotrophic lateral sclerosis: new evidence from Mendelian randomization using GWAS summary statistics. PMID:31796040
A novel RNA sequencing-based risk score model to predict papillary thyroid carcinoma recurrence. PMID:31792675
LncDisAP: a computation model for LncRNA-disease association prediction based on multiple biological datasets. PMID:31787106
Translated Long Non-Coding Ribonucleic Acid ZFAS1 Promotes Cancer Cell Migration by Elevating Reactive Oxygen Species Production in Hepatocellular Carcinoma. PMID:31781169
Characterization of Hepatocellular Carcinoma Cell Lines Using a Fractionation-Then-Sequencing Approach Reveals Nuclear-Enriched HCC-Associated lncRNAs. PMID:31781161
Common DNA sequence variation influences 3-dimensional conformation of the human genome. PMID:31779666
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing. PMID:31779139
Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age. PMID:31767861
DNA methylation aging clocks: challenges and recommendations. PMID:31767039
Recurrent somatic mutations reveal new insights into consequences of mutagenic processes in cancer. PMID:31765368
Midbrain microglia mediate a specific immunosuppressive response under inflammatory conditions. PMID:31757220
Long noncoding RNAs in lipid metabolism: literature review and conservation analysis across species. PMID:31752679
A single ChIP-seq dataset is sufficient for comprehensive analysis of motifs co-occurrence with MCOT package. PMID:31750523
The genomic landscape of metastatic castration-resistant prostate cancers reveals multiple distinct genotypes with potential clinical impact. PMID:31748536
Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease. PMID:31746734
Transposable element expression in tumors is associated with immune infiltration and increased antigenicity. PMID:31745090
Comparative genomic analysis of eutherian connexin genes. PMID:31729432
A Simple RNA Target Capture NGS Strategy for Fusion Genes Assessment in the Diagnostics of Pediatric B-cell Acute Lymphoblastic Leukemia. PMID:31723839
Recurrent functional misinterpretation of RNA-seq data caused by sample-specific gene length bias. PMID:31714939
LncTarD: a manually-curated database of experimentally-supported functional lncRNA-target regulations in human diseases. PMID:31713618
Immunological observations and transcriptomic analysis of trimester-specific full-term placentas from three Zika virus-infected women. PMID:31709049
ILF3 contributes to the establishment of the antiviral type I interferon program. PMID:31701124
Emerging Roles of Long Non-Coding RNAs as Drivers of Brain Evolution. PMID:31698782
Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain. PMID:31695164
AIDE: annotation-assisted isoform discovery with high precision. PMID:31694868
The long noncoding RNA lncNB1 promotes tumorigenesis by interacting with ribosomal protein RPL35. PMID:31690716
Improving single-cell transcriptome sequencing efficiency with a microfluidic phase-switch device. PMID:31688860
Differentiation of Long Non-Coding RNA and mRNA Expression Profiles in Male and Female Aedes albopictus. PMID:31681418
Enhancer LncRNAs Influence Chromatin Interactions in Different Ways. PMID:31681405
The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes. PMID:31676868
A multi-sample approach increases the accuracy of transcript assembly. PMID:31676772
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. PMID:31672989
Systematic Discovery of Endogenous Human Ribonucleoprotein Complexes. PMID:31665645
Metabolic reprogramming associated with aggressiveness occurs in the G-CIMP-high molecular subtypes of IDH1mut lower grade gliomas. PMID:31665443
Double triage to identify poorly annotated genes in maize: The missing link in community curation. PMID:31658277
Comparative Genomics Analysis Reveals High Levels of Differential Retrotransposition among Primates from the Hominidae and the Cercopithecidae Families. PMID:31651947
Genome-wide microhomologies enable precise template-free editing of biologically relevant deletion mutations. PMID:31649251
The RNA-binding ubiquitin ligase MKRN1 functions in ribosome-associated quality control of poly(A) translation. PMID:31640799
Loss of Imprinting in Human Placentas Is Widespread, Coordinated, and Predicts Birth Phenotypes. PMID:31639821
Comprehensive RNA-Seq Data Analysis Identifies Key mRNAs and lncRNAs in Atrial Fibrillation. PMID:31632440
LncRNA LINC01116 Promotes Cancer Cell Proliferation, Migration And Invasion In Gastric Cancer By Positively Interacting With lncRNA CASC11. PMID:31632064
Identifying regulatory pathways of spleen tyrosine kinase expression in human basophils. PMID:31629804
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator. PMID:31628846
Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. PMID:31626773
The caudate nucleus undergoes dramatic and unique transcriptional changes in human prodromal Huntington's disease brain. PMID:31619230
Profiling of tRNA Halves and YRNA Fragments in Serum and Tissue From Oral Squamous Cell Carcinoma Patients Identify Key Role of 5' tRNA-Val-CAC-2-1 Half. PMID:31616639
DNA sequence-dependent chromatin architecture and nuclear hubs formation. PMID:31601866
DC3 is a method for deconvolution and coupled clustering from bulk and single-cell genomics data. PMID:31601804
The U1 spliceosomal RNA is recurrently mutated in multiple cancers. PMID:31597163
An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations. PMID:31591557
LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer. PMID:31591432
Long non-coding RNAs in cutaneous biology and proliferative skin diseases: Advances and perspectives. PMID:31588640
Realizing the potential of full-length transcriptome sequencing. PMID:31587638
Systematic profiling of alternative splicing events and splicing factors in left- and right-sided colon cancer. PMID:31586988
Plasma extracellular vesicle microRNAs for pulmonary ground-glass nodules. PMID:31579436
SFTA1P, LINC00968, GATA6-AS1, TBX5-AS1, and FEZF1-AS1 are crucial long non-coding RNAs associated with the prognosis of lung squamous cell carcinoma. PMID:31579094
The genomic landscape of metastatic breast cancer highlights changes in mutation and signature frequencies. PMID:31570896
Landscape of stimulation-responsive chromatin across diverse human immune cells. PMID:31570894
Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. PMID:31570892
c-Maf regulates the plasticity of group 3 innate lymphoid cells by restraining the type 1 program. PMID:31570496
Prognostic implications of 5-hydroxymethylcytosines from circulating cell-free DNA in diffuse large B-cell lymphoma. PMID:31570490
Expression of microRNA in human retinal pigment epithelial cells following infection with Zaire ebolavirus. PMID:31570108
LNRLMI: Linear neighbour representation for predicting lncRNA-miRNA interactions. PMID:31568653
Crosstalk of mRNA, miRNA, lncRNA, and circRNA and Their Regulatory Pattern in Pulmonary Fibrosis. PMID:31561125
LINC01133 inhibits breast cancer invasion and metastasis by negatively regulating SOX4 expression through EZH2. PMID:31557401
Network-based method for drug target discovery at the isoform level. PMID:31554914
The Long Noncoding RNA HEAL Regulates HIV-1 Replication through Epigenetic Regulation of the HIV-1 Promoter. PMID:31551335
LINC00461 affects the survival of patients with renal cell carcinoma by acting as a competing endogenous RNA for microRNA‑942. PMID:31545458
Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci. PMID:31537640
Multi-omics profiling reveals key signaling pathways in ovarian cancer controlled by STAT3. PMID:31534498
Evolutionary and functional impact of common polymorphic inversions in the human genome. PMID:31530810
Sequence determinants of polyadenylation-mediated regulation. PMID:31530582
Expression of ZNF695 Transcript Variants in Childhood B-Cell Acute Lymphoblastic Leukemia. PMID:31527520
A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease. PMID:31520587
Gene expression profiling of single cells from archival tissue with laser-capture microdissection and Smart-3SEQ. PMID:31519740
Effect of hyperoside on cervical cancer cells and transcriptome analysis of differentially expressed genes. PMID:31516392
Possible Molecular Mechanisms for the Roles of MicroRNA-21 Played in Lung Cancer. PMID:31506038
Identifying targets for preventing epilepsy using systems biology of the human brain. PMID:31493467
A polygenic resilience score moderates the genetic risk for schizophrenia. PMID:31492941
Mitigation of off-target toxicity in CRISPR-Cas9 screens for essential non-coding elements. PMID:31492858
Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations. PMID:31484939
Comprehensive analysis of long noncoding RNA (lncRNA)-chromatin interactions reveals lncRNA functions dependent on binding diverse regulatory elements. PMID:31484726
PredLnc-GFStack: A Global Sequence Feature Based on a Stacked Ensemble Learning Method for Predicting lncRNAs from Transcripts. PMID:31484412
Graph Convolutional Network and Convolutional Neural Network Based Method for Predicting lncRNA-Disease Associations. PMID:31480350
NET-CAGE characterizes the dynamics and topology of human transcribed cis-regulatory elements. PMID:31477927
Identification of lung-adenocarcinoma-related long non-coding RNAs by random walking on a competing endogenous RNA network. PMID:31475209
Getting the Entire Message: Progress in Isoform Sequencing. PMID:31475029
Long intergenic noncoding RNA profiles of pheochromocytoma and paraganglioma: A novel prognostic biomarker. PMID:31469413
Maximizing binary interactome mapping with a minimal number of assays. PMID:31467278
Long non-coding RNA LINC01225 promotes proliferation, invasion and migration of gastric cancer via Wnt/β-catenin signalling pathway. PMID:31460694
Modeling and analysis of RNA-seq data: a review from a statistical perspective. PMID:31456901
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. PMID:31452935
Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. PMID:31451708
Harnessing the tissue and plasma lncRNA-peptidome to discover peptide-based cancer biomarkers. PMID:31444383
A Phase Ib Study of the Combination of Personalized Autologous Dendritic Cell Vaccine, Aspirin, and Standard of Care Adjuvant Chemotherapy Followed by Nivolumab for Resected Pancreatic Adenocarcinoma-A Proof of Antigen Discovery Feasibility in Three Patients. PMID:31440238
The role of long non-coding RNAs in cardiac development and disease. PMID:31435517
Replication timing networks reveal a link between transcription regulatory circuits and replication timing control. PMID:31434679
Six-mRNA risk score system and nomogram constructed for patients with ovarian cancer. PMID:31423184
The nuclear hypoxia-regulated NLUCAT1 long non-coding RNA contributes to an aggressive phenotype in lung adenocarcinoma through regulation of oxidative stress. PMID:31417181
Application of the High-throughput TAB-Array for the Discovery of Novel 5-Hydroxymethylcytosine Biomarkers in Pancreatic Ductal Adenocarcinoma. PMID:31413874
EPIP: a novel approach for condition-specific enhancer-promoter interaction prediction. PMID:31410461
Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN. PMID:31392414
Molecular architecture of lineage allocation and tissue organization in early mouse embryo. PMID:31391582
ARID1A and PI3-kinase pathway mutations in the endometrium drive epithelial transdifferentiation and collective invasion. PMID:31391455
Applications of the Soil, Plant and Rumen Microbiomes in Pastoral Agriculture. PMID:31380386
Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding. PMID:31375681
Prediction of regulatory motifs from human Chip-sequencing data using a deep learning framework. PMID:31372637
A Comprehensive Study of Vesicular and Non-Vesicular miRNAs from a Volume of Cerebrospinal Fluid Compatible with Clinical Practice. PMID:31367240
Beyond sequencing: re-visiting annotations for PJL as a test case. PMID:31366397
HUPAN: a pan-genome analysis pipeline for human genomes. PMID:31366358
The long noncoding RNA MALAT1 predicts human pancreatic islet isolation quality. PMID:31361602
Scarcity of Recurrent Regulatory Driver Mutations in Colorectal Cancer Revealed by Targeted Deep Sequencing. PMID:31360895
Mitochondrial oxidative stress-induced transcript variants of ATF3 mediate lipotoxic brain microvascular injury. PMID:31356870
An expanded landscape of human long noncoding RNA. PMID:31350901
Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits. PMID:31345219
Predicting functional long non-coding RNAs validated by low throughput experiments. PMID:31345106
Before and After: Comparison of Legacy and Harmonized TCGA Genomic Data Commons' Data. PMID:31344359
Eye in a Disk: eyeIntegration Human Pan-Eye and Body Transcriptome Database Version 1.0. PMID:31343654
Benchmark and integration of resources for the estimation of human transcription factor activities. PMID:31340985
Impact of sequencing depth and technology on de novo RNA-Seq assembly. PMID:31337347
Long Non-Coding RNA Function in CD4+ T Cells: What We Know and What Next? PMID:31336952
Identification of DNA motifs that regulate DNA methylation. PMID:31334813
AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease. PMID:31330134
Simultaneous RNA purification and size selection using on-chip isotachophoresis with an ionic spacer. PMID:31328753
Activation of neuronal genes via LINE-1 elements upon global DNA demethylation in human neural progenitors. PMID:31320637
NEAT1 is overexpressed in Parkinson's disease substantia nigra and confers drug-inducible neuroprotection from oxidative stress. PMID:31311324
Genome-Wide Identification and Characterization of Long Non-Coding RNAs in Peanut. PMID:31311183
Vitamin D differentially regulates colon stem cells in patient-derived normal and tumor organoids. PMID:31306552
FOXA2 Is Required for Enhancer Priming during Pancreatic Differentiation. PMID:31291575
Correlations between Genetic Polymorphisms in Long Non-Coding RNA PRNCR1 and Gastric Cancer Risk in a Korean Population. PMID:31288430
Systematic discovery of conservation states for single-nucleotide annotation of the human genome. PMID:31286065
The construction and analysis of the aberrant lncRNA-miRNA-mRNA network in non-small cell lung cancer. PMID:31285869
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease. PMID:31283791
Predicting drug-free remission in rheumatoid arthritis: A prospective interventional cohort study. PMID:31280933
Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia. PMID:31280495
Uncovering biomarker genes with enriched classification potential from Hallmark gene sets. PMID:31278367
TNF-α Differentially Regulates Cell Cycle Genes in Promyelocytic and Granulocytic HL-60/S4 Cells. PMID:31263060
Detecting the long non‑coding RNA signature related to spinal cord ependymal tumor subtype using a genome‑wide methylome analysis approach. PMID:31257484
Conditional Activation of NF-κB Inducing Kinase (NIK) in the Osteolineage Enhances Both Basal and Loading-Induced Bone Formation. PMID:31246323
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome. PMID:31240104
Integration of CLIP experiments of RNA-binding proteins: a novel approach to predict context-dependent splicing factors from transcriptomic data. PMID:31238884
Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA. PMID:31237235
Molecular Traits of Long Non-protein Coding RNAs from Diverse Plant Species Show Little Evidence of Phylogenetic Relationships. PMID:31235560
Genome-Wide Analysis of Long Non-Coding RNA Profiles in Canine Oral Melanomas. PMID:31234577
PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations. PMID:31233103
Accumulating computational resource usage of genomic data analysis workflow to optimize cloud computing instance selection. PMID:31222199
Two Separation-of-Function Isoforms of Human TPP1 Dictate Telomerase Regulation in Somatic and Germ Cells. PMID:31216472
p73 regulates epidermal wound healing and induced keratinocyte programming. PMID:31216312
Phytochemicals as Modulators of Long Non-Coding RNAs and Inhibitors of Cancer-Related Carbonic Anhydrases. PMID:31208095
TOX is a critical regulator of tumour-specific T cell differentiation. PMID:31207604
Evolutionary perspectives on polygenic selection, missing heritability, and GWAS. PMID:31201529
Computational Methods for Mapping, Assembly and Quantification for Coding and Non-coding Transcripts. PMID:31193391
Identification of Breast Cancer Stem Cell Related Genes Using Functional Cellular Assays Combined With Single-Cell RNA Sequencing in MDA-MB-231 Cells. PMID:31191614
LncRNA-Disease Association Prediction Using Two-Side Sparse Self-Representation. PMID:31191605
LncRRIsearch: A Web Server for lncRNA-RNA Interaction Prediction Integrated With Tissue-Specific Expression and Subcellular Localization Data. PMID:31191601
RNA sequencing uncovers the key long non-coding RNAs and potential molecular mechanism contributing to XAV939-mediated inhibition of non-small cell lung cancer. PMID:31186710
Codon usage optimization in pluripotent embryonic stem cells. PMID:31174582
Comprehensive Characterization of the Human Endogenous Retrovirus HERV-K(HML-6) Group: Overview of Structure, Phylogeny, and Contribution to the Human Genome. PMID:31167914
Phosphorylation of TET2 by AMPK is indispensable in myogenic differentiation. PMID:31164154
Integrative Analysis of Somatic Mutations in Non-coding Regions Altering RNA Secondary Structures in Cancer Genomes. PMID:31160636
Haplotype-aware diplotyping from noisy long reads. PMID:31159868
Bridging the gap between reference and real transcriptomes. PMID:31159855
Comprehensive functional profiling of long non-coding RNAs through a novel pan-cancer integration approach and modular analysis of their protein-coding gene association networks. PMID:31159744
CircRNA-100338 Is Associated With mTOR Signaling Pathway and Poor Prognosis in Hepatocellular Carcinoma. PMID:31157168
Novel Approaches in Ovarian Cancer Research against Heterogeneity, Late Diagnosis, Drug Resistance, and Transcoelomic Metastases. PMID:31146417
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk. PMID:31133750
Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms. PMID:31123710
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains. PMID:31116477
Genetics of heart rate in heart failure patients (GenHRate). PMID:31113495
Epigenetic evolution and lineage histories of chronic lymphocytic leukaemia. PMID:31092926
Identification of Cancer Drivers at CTCF Insulators in 1,962 Whole Genomes. PMID:31078526
A Quantitative and Predictive Model for RNA Binding by Human Pumilio Proteins. PMID:31078383
Tissue-specific genes as an underutilized resource in drug discovery. PMID:31076736
Large-scale in-silico identification of a tumor-specific antigen pool for targeted immunotherapy in triple-negative breast cancer. PMID:31069014
Pancreatic islet chromatin accessibility and conformation reveals distal enhancer networks of type 2 diabetes risk. PMID:31064983
Human transposons are an abundant supply of transcription factor binding sites and promoter activities in breast cancer cell lines. PMID:31061680
A five lncRNA signature for prognosis prediction in hepatocellular carcinoma. PMID:31059056
Differential methylation of enhancer at IGF2 is associated with abnormal dopamine synthesis in major psychosis. PMID:31053723
Identification and Quantification of Proteoforms by Mass Spectrometry. PMID:31050378
EpiAlign: an alignment-based bioinformatic tool for comparing chromatin state sequences. PMID:31045217
Loss of Nuclear TDP-43 Is Associated with Decondensation of LINE Retrotransposons. PMID:31042469
ClinOmicsTrailbc: a visual analytics tool for breast cancer treatment stratification. PMID:31038669
Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese. PMID:31032141
A Panel of 12-lncRNA Signature Predicts Survival of Pancreatic Adenocarcinoma. PMID:31031865
Targeted, High-Resolution RNA Sequencing of Non-coding Genomic Regions Associated With Neuropsychiatric Functions. PMID:31031799
PseudoFuN: Deriving functional potentials of pseudogenes from integrative relationships with genes and microRNAs across 32 cancers. PMID:31029062
African evolutionary history inferred from whole genome sequence data of 44 indigenous African populations. PMID:31023338
RNA Sequencing Analyses of Gene Expression during Epstein-Barr Virus Infection of Primary B Lymphocytes. PMID:31019051
Transcriptome Alterations in Liver Metastases of Colorectal Cancer After Acquired Resistance to Cetuximab. PMID:31018951
An integrated analysis reveals the oncogenic function of lncRNA LINC00511 in human ovarian cancer. PMID:31016892
Corrupted coordination of epigenetic modifications leads to diverging chromatin states and transcriptional heterogeneity in CLL. PMID:31015400
SNHG15 is a bifunctional MYC-regulated noncoding locus encoding a lncRNA that promotes cell proliferation, invasion and drug resistance in colorectal cancer by interacting with AIF. PMID:31014355
Applications of ENCODE data to Systematic Analyses via Data Integration. PMID:31011690
BayesPI-BAR2: A New Python Package for Predicting Functional Non-coding Mutations in Cancer Patient Cohorts. PMID:31001324
NF-κB Signaling and IL-4 Signaling Regulate SATB1 Expression via Alternative Promoter Usage During Th2 Differentiation. PMID:31001272
Evidence for an oncogenic role of HOXC6 in human non-small cell lung cancer. PMID:30993034
Prediction of Long Non-Coding RNAs Based on Deep Learning. PMID:30987229
Integrated Transcriptomic and Proteomic Analysis of Primary Human Umbilical Vein Endothelial Cells. PMID:30983154
Promoter-Intrinsic and Local Chromatin Features Determine Gene Repression in LADs. PMID:30982597
Mapping the transcriptional diversity of genetically and anatomically defined cell populations in the mouse brain. PMID:30977723
Pan-cancer analysis on microRNA-associated gene activation. PMID:30956173
exceRpt: A Comprehensive Analytic Platform for Extracellular RNA Profiling. PMID:30956140
High resolution discovery of chromatin interactions. PMID:30953075
PanglaoDB: a web server for exploration of mouse and human single-cell RNA sequencing data. PMID:30951143
ADAR1 promotes robust hypoxia signaling via distinct regulation of multiple HIF-1α-inhibiting factors. PMID:30948460
TranscriptAchilles: a genome-wide platform to predict isoform biomarkers of gene essentiality in cancer. PMID:30942869
The lncRNA Neat1 promotes activation of inflammasomes in macrophages. PMID:30940803
Transposable elements drive widespread expression of oncogenes in human cancers. PMID:30926969
Electrotaxis of Glioblastoma and Medulloblastoma Spheroidal Aggregates. PMID:30926929
Combinatorial interactions of genetic variants in human cardiomyopathy. PMID:30923642
FactorNet: A deep learning framework for predicting cell type specific transcription factor binding from nucleotide-resolution sequential data. PMID:30922998
Diagnosis of fusion genes using targeted RNA sequencing. PMID:30918253
Dual RNA-Seq of Human Leprosy Lesions Identifies Bacterial Determinants Linked to Host Immune Response. PMID:30917313
Integrative transcriptomic analysis suggests new autoregulatory splicing events coupled with nonsense-mediated mRNA decay. PMID:30916337
Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data. PMID:30914061
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies. PMID:30911571
Functional and transcriptomic characterization of carboplatin-resistant A2780 ovarian cancer cell line. PMID:30894224
Transcriptome Analysis of the Human Tibial Nerve Identifies Sexually Dimorphic Expression of Genes Involved in Pain, Inflammation, and Neuro-Immunity. PMID:30890918
The Proteogenomic Landscape of Curable Prostate Cancer. PMID:30889379
HOXC6 promotes migration, invasion and proliferation of esophageal squamous cell carcinoma cells via modulating expression of genes involved in malignant phenotypes. PMID:30886783
Genetic Association of Olanzapine Treatment Response in Han Chinese Schizophrenia Patients. PMID:30886581
Long Noncoding RNA MPRL Promotes Mitochondrial Fission and Cisplatin Chemosensitivity via Disruption of Pre-miRNA Processing. PMID:30885939
Evaluating and sharing global genetic ancestry in biomedical datasets. PMID:30869786
Liquid Biopsies in Lung Cancer: Four Emerging Technologies and Potential Clinical Applications. PMID:30866571
Genome-wide analysis of long non-coding RNA expression profile in porcine circovirus 2-infected intestinal porcine epithelial cell line by RNA sequencing. PMID:30863688
Correlations of lncRNAs with cervical lymph node metastasis and prognosis of papillary thyroid carcinoma. PMID:30863094
Drug repositioning in epilepsy reveals novel antiseizure candidates. PMID:30847362
The cellular landscape of mid-size noncoding RNA. PMID:30843375
svist4get: a simple visualization tool for genomic tracks from sequencing experiments. PMID:30841857
Multi-Omics Approaches to Study Long Non-coding RNA Function in Atherosclerosis. PMID:30838214
Integrative Analysis Reveals Key Circular RNA in Atrial Fibrillation. PMID:30838031
Shortage of Cellular ATP as a Cause of Diseases and Strategies to Enhance ATP. PMID:30837873
Drug Repurposing: The Anthelmintics Niclosamide and Nitazoxanide Are Potent TMEM16A Antagonists That Fully Bronchodilate Airways. PMID:30837866
Shared and unique genomic structural variants of different histological components within testicular germ cell tumours identified with mate pair sequencing. PMID:30837548
Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression. PMID:30837461
Revealing Gene Function and Transcription Relationship by Reconstructing Gene-Level Chromatin Interaction. PMID:30828411
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. PMID:30820047
Circular RNA expression profiles in neonatal rats following hypoxic-ischemic brain damage. PMID:30816430
RREB1-induced upregulation of the lncRNA AGAP2-AS1 regulates the proliferation and migration of pancreatic cancer partly through suppressing ANKRD1 and ANGPTL4. PMID:30814490
BGFE: A Deep Learning Model for ncRNA-Protein Interaction Predictions Based on Improved Sequence Information. PMID:30813451
Identification of lncRNA TRPM2-AS/miR-140-3p/PYCR1 axis's proliferates and anti-apoptotic effect on breast cancer using co-expression network analysis. PMID:30810442
Extensive epigenomic integration of the glucocorticoid response in primary human monocytes and in vitro derived macrophages. PMID:30809020
SELER: a database of super-enhancer-associated lncRNA- directed transcriptional regulation in human cancers. PMID:30806704
New guidelines for DNA methylome studies regarding 5-hydroxymethylcytosine for understanding transcriptional regulation. PMID:30782641
CVm6A: A Visualization and Exploration Database for m⁶As in Cell Lines. PMID:30781586
Long non-coding RNAs discriminate the stages and gene regulatory states of human humoral immune response. PMID:30778059
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. PMID:30773278
Role of Noncoding RNAs in the Pathogenesis of Abdominal Aortic Aneurysm. PMID:30763215
Epigenetic findings in periodontitis in UK twins: a cross-sectional study. PMID:30760334
Whole-genome sequencing identifies ADGRG6 enhancer mutations and FRS2 duplications as angiogenesis-related drivers in bladder cancer. PMID:30755618
Histone deacetylase inhibitors induce complex host responses that contribute to differential potencies of these compounds in HIV reactivation. PMID:30745362
PUMILIO hyperactivity drives premature aging of Norad-deficient mice. PMID:30735131
Proposal for Modification of Cahan's Criteria Utilizing Molecular Genetic Analyses for Cases without Baseline Histopathology: A Unique Method Applicable to Primary Radiosurgery. PMID:30733895
RNA-Seq Signatures Normalized by mRNA Abundance Allow Absolute Deconvolution of Human Immune Cell Types. PMID:30726743
RNA-Seq profiling in peripheral blood mononuclear cells of amyotrophic lateral sclerosis patients and controls. PMID:30720798
The circRNA-microRNA code: emerging implications for cancer diagnosis and treatment. PMID:30719845
Differentiation of human pluripotent stem cells into neurons or cortical organoids requires transcriptional co-regulation by UTX and 53BP1. PMID:30718900
The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region. PMID:30718669
Identification of the targets of hematoporphyrin derivative in lung adenocarcinoma using integrated network analysis. PMID:30717818
Prohibitin: A hypothetical target for sex-based new therapeutics for metabolic and immune diseases. PMID:30717609
Bioinformatics analysis to identify the key genes affecting the progression and prognosis of hepatocellular carcinoma. PMID:30705088
Generative modeling of multi-mapping reads with mHi-C advances analysis of Hi-C studies. PMID:30702424
Detection of RNA-DNA binding sites in long noncoding RNAs. PMID:30698727
GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals. PMID:30692680
EnhancerDB: a resource of transcriptional regulation in the context of enhancers. PMID:30689845
High-throughput functional analysis of lncRNA core promoters elucidates rules governing tissue specificity. PMID:30683753
Multiple-gene targeting and mismatch tolerance can confound analysis of genome-wide pooled CRISPR screens. PMID:30683138
Immune regulation by glucocorticoids can be linked to cell type-dependent transcriptional responses. PMID:30674564
Enhancer hijacking activates oncogenic transcription factor NR4A3 in acinic cell carcinomas of the salivary glands. PMID:30664630
Incorporation of long non-coding RNA expression profile in the 2017 ELN risk classification can improve prognostic prediction of acute myeloid leukemia patients. PMID:30662003
Propofol Suppresses Proinflammatory Cytokine Production by Increasing ABCA1 Expression via Mediation by the Long Noncoding RNA LOC286367. PMID:30647536
pblat: a multithread blat algorithm speeding up aligning sequences to genomes. PMID:30646844
Neuronal brain-region-specific DNA methylation and chromatin accessibility are associated with neuropsychiatric trait heritability. PMID:30643296
Invited Review: Long non-coding RNAs: important regulators in the development, function and disorders of the central nervous system. PMID:30636336
The Circulating Transcriptome as a Source of Biomarkers for Melanoma. PMID:30634628
Treatment of two mitochondrial disease patients with a combination of febuxostat and inosine that enhances cellular ATP. PMID:30631120
Accurate prediction of cell type-specific transcription factor binding. PMID:30630522
West Nile Virus-Inclusive Single-Cell RNA Sequencing Reveals Heterogeneity in the Type I Interferon Response within Single Cells. PMID:30626670
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. PMID:30619471
The Role of Histone Methyltransferases and Long Non-coding RNAs in the Regulation of T Cell Fate Decisions. PMID:30619315
Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases. PMID:30610612
Isolation and genome-wide characterization of cellular DNA:RNA triplex structures. PMID:30605520
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. PMID:30604766
Balancing yield, purity and practicality: a modified differential ultracentrifugation protocol for efficient isolation of small extracellular vesicles from human serum. PMID:30604646
Oligomeric proanthocyanidins (OPCs) from grape seed extract suppress the activity of ABC transporters in overcoming chemoresistance in colorectal cancer cells. PMID:30596962
A longitudinal systems immunologic investigation of acute Zika virus infection in an individual infected while traveling to Caracas, Venezuela. PMID:30596671
Discerning novel splice junctions derived from RNA-seq alignment: a deep learning approach. PMID:30591034
Ancient exapted transposable elements promote nuclear enrichment of human long noncoding RNAs. PMID:30587508
Pathogenicity and selective constraint on variation near splice sites. PMID:30587507
Current perspectives in assessing humoral immunity after measles vaccination. PMID:30585753
RNA element discovery from germ cell to blastocyst. PMID:30576549
Generation of an immortalized human choroid endothelial cell line (iChEC-1) using an endothelial cell specific promoter. PMID:30571950
Anchor: trans-cell type prediction of transcription factor binding sites. PMID:30567711
Measures of co-expression for improved function prediction of long non-coding RNAs. PMID:30567492
A Cellular Anatomy of the Normal Adult Human Prostate and Prostatic Urethra. PMID:30566875
Relative impact of indels versus SNPs on complex disease. PMID:30565766
An evolutionary framework for measuring epigenomic information and estimating cell-type-specific fitness consequences. PMID:30559490
Co-expression of long non-coding RNAs and autism risk genes in the developing human brain. PMID:30547845
Long noncoding RNAs of single hematopoietic stem and progenitor cells in healthy and dysplastic human bone marrow. PMID:30545929
Transcriptome and epigenome landscape of human cortical development modeled in organoids. PMID:30545853
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. PMID:30545852
Significantly altered peripheral blood cell DNA methylation profile as a result of immediate effect of metformin use in healthy individuals. PMID:30545422
Mapping of γ/δ T cells reveals Vδ2+ T cells resistance to senescence. PMID:30528453
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. PMID:30526868
Rapid reversible changes in compartments and local chromatin organization revealed by hyperosmotic shock. PMID:30523037
The transcription factors TFE3 and TFEB amplify p53 dependent transcriptional programs in response to DNA damage. PMID:30520728
Circulating small non-coding RNAs associated with age, sex, smoking, body mass and physical activity. PMID:30518766
Interactome determination of a Long Noncoding RNA implicated in Embryonic Stem Cell Self-Renewal. PMID:30514857
Transcript- and protein-level analyses of the response of human eosinophils to glucocorticoids. PMID:30512017
Multifocal Versus Conventional Unifocal Diverticulitis: A Comparison of Clinical and Transcriptomic Characteristics. PMID:30511196
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data. PMID:30503520
CHESS: a new human gene catalog curated from thousands of large-scale RNA sequencing experiments reveals extensive transcriptional noise. PMID:30486838
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. PMID:30478444
Pooled extracellular receptor-ligand interaction screening using CRISPR activation. PMID:30477585
SMuRF: a novel tool to identify regulatory elements enriched for somatic point mutations. PMID:30477433
MIR sequences recruit zinc finger protein ZNF768 to expressed genes. PMID:30476274
Long non-coding RNAs in hematological malignancies: translating basic techniques into diagnostic and therapeutic strategies. PMID:30466456
Hepatic gene body hypermethylation is a shared epigenetic signature of murine longevity. PMID:30462643
BPLLDA: Predicting lncRNA-Disease Associations Based on Simple Paths With Limited Lengths in a Heterogeneous Network. PMID:30459803
ASGAL: aligning RNA-Seq data to a splicing graph to detect novel alternative splicing events. PMID:30458725
CARM1 methylates MED12 to regulate its RNA-binding ability. PMID:30456381
Widespread roles of enhancer-like transposable elements in cell identity and long-range genomic interactions. PMID:30455182
Insights into mammalian transcription control by systematic analysis of ChIP sequencing data. PMID:30453943
Impact of Genetic Polymorphisms on Human Immune Cell Gene Expression. PMID:30449622
RNAct: Protein-RNA interaction predictions for model organisms with supporting experimental data. PMID:30445601
Splicing of long non-coding RNAs primarily depends on polypyrimidine tract and 5' splice-site sequences due to weak interactions with SR proteins. PMID:30445574
PAVOOC: designing CRISPR sgRNAs using 3D protein structures and functional domain annotations. PMID:30445568
Micro-Inversions In Human Cancer Genomes. PMID:30440635
Expression of mitochondrial dysfunction-related genes and pathways in paclitaxel-induced peripheral neuropathy in breast cancer survivors. PMID:30426838
Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis. PMID:30413775
Ongoing human chromosome end extension revealed by analysis of BioNano and nanopore data. PMID:30413723
The DEK Oncoprotein Functions in Ovarian Cancer Growth and Survival. PMID:30412857
A Potential Competitive Endogenous RNA Pathway Involved in Chronic Spinal Cord Injury. PMID:30411720
FusionGDB: fusion gene annotation DataBase. PMID:30407583
Update of the FANTOM web resource: expansion to provide additional transcriptome atlases. PMID:30407557
Lnc2Cancer v2.0: updated database of experimentally supported long non-coding RNAs in human cancers. PMID:30407549
The UCSC Genome Browser database: 2019 update. PMID:30407534
WebCircRNA: Classifying the Circular RNA Potential of Coding and Noncoding RNA. PMID:30404245
Localizing and Classifying Adaptive Targets with Trend Filtered Regression. PMID:30398642
Longitudinal personal DNA methylome dynamics in a human with a chronic condition. PMID:30397358
A Prognostic Signature for Lower Grade Gliomas Based on Expression of Long Non-Coding RNAs. PMID:30392137
A phylogenomic study quantifies competing mechanisms for pseudogenization in prokaryotes-The Mycobacterium leprae case. PMID:30383852
Improved Macaca fascicularis gene annotation reveals evolution of gene expression profiles in multiple tissues. PMID:30382841
LncRNA2Target v2.0: a comprehensive database for target genes of lncRNAs in human and mouse. PMID:30380072
Whole-Genome Alignment and Comparative Annotation. PMID:30379572
Tumor suppressor PNRC1 blocks rRNA maturation by recruiting the decapping complex to the nucleolus. PMID:30373810
LNCipedia 5: towards a reference set of human long non-coding RNAs. PMID:30371849
DUXAP8, a pseudogene derived lncRNA, promotes growth of pancreatic carcinoma cells by epigenetically silencing CDKN1A and KLF2. PMID:30367681
Cancer type prediction based on copy number aberration and chromatin 3D structure with convolutional neural networks. PMID:30367576
CircRNA-associated ceRNA network reveals ErbB and Hippo signaling pathways in hypopharyngeal cancer. PMID:30365065
EWAS Atlas: a curated knowledgebase of epigenome-wide association studies. PMID:30364969
Discordant roles for FGF ligands in lung branching morphogenesis between human and mouse. PMID:30357827
GENCODE reference annotation for the human and mouse genomes. PMID:30357393
CORUM: the comprehensive resource of mammalian protein complexes-2019. PMID:30357367
Genome-wide map of human and mouse transcription factor binding sites aggregated from ChIP-Seq data. PMID:30352610
Deleterious variation shapes the genomic landscape of introgression. PMID:30346959
From De Novo to "De Nono": The Majority of Novel Protein-Coding Genes Identified with Phylostratigraphy Are Old Genes or Recent Duplicates. PMID:30346517
Bridging Synaptic and Epigenetic Maintenance Mechanisms of the Engram. PMID:30344478
Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health. PMID:30342560
SeqOthello: querying RNA-seq experiments at scale. PMID:30340508
Discovering in vivo cytokine-eQTL interactions from a lupus clinical trial. PMID:30340504
Up-regulation of the kinase gene SGK1 by progesterone activates the AP-1-NDRG1 axis in both PR-positive and -negative breast cancer cells. PMID:30337371
Comprehensive analysis of long noncoding RNA expression in dorsal root ganglion reveals cell-type specificity and dysregulation after nerve injury. PMID:30335683
PopHumanScan: the online catalog of human genome adaptation. PMID:30335169
Long noncoding RNA NBAT1 inhibits autophagy via suppression of ATG7 in non-small cell lung cancer. PMID:30323972
Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells. PMID:30320766
Dlk1-Dio3 locus-derived lncRNAs perpetuate postmitotic motor neuron cell fate and subtype identity. PMID:30311912
New players in chronic lung disease identified at the European Respiratory Society International Congress in Paris 2018: from microRNAs to extracellular vesicles. PMID:30310685
Thyroid hormone signaling specifies cone subtypes in human retinal organoids. PMID:30309916
Examining the contribution of smoking and HPV towards the etiology of oral cavity squamous cell carcinoma using high-throughput sequencing: A prospective observational study. PMID:30308005
Complement receptor CD46 co-stimulates optimal human CD8+ T cell effector function via fatty acid metabolism. PMID:30305631
Expression analysis of lncRNA AK370814 involved in the barley vitamin B6 salvage pathway under salinity. PMID:30298351
Epigenomic map of human liver reveals principles of zonated morphogenic and metabolic control. PMID:30297808
Shark genomes provide insights into elasmobranch evolution and the origin of vertebrates. PMID:30297745
Long non-coding RNA AFAP1-AS1 plays an oncogenic role in promoting cell migration in non-small cell lung cancer. PMID:30293090
Repurposing of promoters and enhancers during mammalian evolution. PMID:30287902
Single-cell transcriptomes reveal the mechanism for a breast cancer prognostic gene panel. PMID:30279960
Long Noncoding RNA Signature and Disease Outcome in Estrogen Receptor-Positive Breast Cancer Patients Treated with Tamoxifen. PMID:30275856
Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease. PMID:30275566
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci. PMID:30275530
New insights into the cellular temporal response to proteostatic stress. PMID:30272558
MiPanda: A Resource for Analyzing and Visualizing Next-Generation Sequencing Transcriptomics Data. PMID:30268942
Human genes: Time to follow the roads less traveled? PMID:30256779
The synthetic histone-binding regulator protein PcTF activates interferon genes in breast cancer cells. PMID:30253781
Profiles of alternative splicing in colorectal cancer and their clinical significance: A study based on large-scale sequencing data. PMID:30243491
A differential host response to viral infection defines a subset of earlier-onset diverticulitis patients. PMID:30240468
POSTAR2: deciphering the post-transcriptional regulatory logics. PMID:30239819
Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks. PMID:30239781
The long non-coding RNA NEAT1 is elevated in polyglutamine repeat expansion diseases and protects from disease gene-dependent toxicities. PMID:30239724
Integrating hypertension phenotype and genotype with hybrid non-negative matrix factorization. PMID:30239588
New Insights Into the Long Non-coding RNA SRA: Physiological Functions and Mechanisms of Action. PMID:30238005
mRNA circularization by METTL3-eIF3h enhances translation and promotes oncogenesis. PMID:30232453
Transcriptional fates of human-specific segmental duplications in brain. PMID:30228200
Genome-wide identification of tissue-specific long non-coding RNA in three farm animal species. PMID:30227846
Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease. PMID:30224808
Insights into the Influence of Specific Splicing Events on the Structural Organization of LRRK2. PMID:30223621
lncSLdb: a resource for long non-coding RNA subcellular localization. PMID:30219837
A combination of curcumin and oligomeric proanthocyanidins offer superior anti-tumorigenic properties in colorectal cancer. PMID:30218018
A pan-cancer atlas of cancer hallmark-associated candidate driver lncRNAs. PMID:30216655
Beyond the 3'UTR binding-microRNA-induced protein truncation via DNA binding. PMID:30214689
Refined RIP-seq protocol for epitranscriptome analysis with low input materials. PMID:30212448
The genetic basis and cell of origin of mixed phenotype acute leukaemia. PMID:30209392
Terminal exon characterization with TECtool reveals an abundance of cell-specific isoforms. PMID:30202060
Long noncoding RNA LERFS negatively regulates rheumatoid synovial aggression and proliferation. PMID:30198906
Targeting the IGF1R Pathway in Breast Cancer Using Antisense lncRNA-Mediated Promoter cis Competition. PMID:30195750
Characterisation and functional predictions of canine long non-coding RNAs. PMID:30194329
Linking prostate cancer cell AR heterogeneity to distinct castration and enzalutamide responses. PMID:30190514
ZFAS1: a novel tumor-related long non-coding RNA. PMID:30186041
Pairs of Adjacent Conserved Noncoding Elements Separated by Conserved Genomic Distances Act as Cis-Regulatory Units. PMID:30184074
Integration of gene interaction information into a reweighted random survival forest approach for accurate survival prediction and survival biomarker discovery. PMID:30181543
Discovering lncRNA mediated sponge interactions in breast cancer molecular subtypes. PMID:30180792
RibORF: Identifying Genome-Wide Translated Open Reading Frames Using Ribosome Profiling. PMID:30178897
Transcriptomic analysis reveals key lncRNAs associated with ribosomal biogenesis and epidermis differentiation in head and neck squamous cell carcinoma. PMID:30178634
Deficiency in the nuclear long noncoding RNA Charme causes myogenic defects and heart remodeling in mice. PMID:30177572
Long non-coding RNAs in the failing heart and vasculature. PMID:30175285
Molecular mechanism of activated T cells in breast cancer. PMID:30174439
ANNOgesic: a Swiss army knife for the RNA-seq based annotation of bacterial/archaeal genomes. PMID:30169674
High-affinity RNA targets of the Survival Motor Neuron protein reveal diverse preferences for sequence and structural motifs. PMID:30165668
Function of HNRNPC in breast cancer cells by controlling the dsRNA-induced interferon response. PMID:30158112
Genomic meta-analysis of the interplay between 3D chromatin organization and gene expression programs under basal and stress conditions. PMID:30157915
Mechanisms of Huangqi Decoction Granules () on Hepatitis B Cirrhosis Patients Based on RNA-Sequencing. PMID:30155678
Mapping 3D genome organization relative to nuclear compartments using TSA-Seq as a cytological ruler. PMID:30154186
The DNA methylation landscape of glioblastoma disease progression shows extensive heterogeneity in time and space. PMID:30150718
Genome-wide identification of clusters of predicted microRNA binding sites as microRNA sponge candidates. PMID:30142196
Long Non-Coding RNAs Guide the Fine-Tuning of Gene Regulation in B-Cell Development and Malignancy. PMID:30134619
Dysregulation of lncRNAs GM5524 and GM15645 involved in high‑glucose‑induced podocyte apoptosis and autophagy in diabetic nephropathy. PMID:30132544
Isoform-Level Interpretation of High-Throughput Proteomics Data Enabled by Deep Integration with RNA-seq. PMID:30125121
Alternative splicing expands the prognostic impact of KRAS in microsatellite stable primary colorectal cancer. PMID:30121958
Intron retention is a source of neoepitopes in cancer. PMID:30114007
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. PMID:30108311
Human proteins that interact with RNA/DNA hybrids. PMID:30108179
Risk assessment model constructed by differentially expressed lncRNAs for the prognosis of glioma. PMID:30106138
Identification of LINC01279 as a cell cycle‑associated long non‑coding RNA in endometriosis with GBA analysis. PMID:30106115
The landscape of the A-to-I RNA editome from 462 human genomes. PMID:30104667
Glucocorticoid receptor recruits to enhancers and drives activation by motif-directed binding. PMID:30097539
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants. PMID:30096381
iMapSplice: Alleviating reference bias through personalized RNA-seq alignment. PMID:30096157
Bioinformatics-based analysis of the involvement of AC005550.3, RP11-415D17.3, and RP1-140K8.5 in homocysteine-induced vascular endothelial injury. PMID:30093949
LncFinder: an integrated platform for long non-coding RNA identification utilizing sequence intrinsic composition, structural information and physicochemical property. PMID:30084867
Detection and benchmarking of somatic mutations in cancer genomes using RNA-seq data. PMID:30083469
KDM5 histone demethylases repress immune response via suppression of STING. PMID:30080846
The Long Noncoding RNA Landscape in Amygdala Tissues from Schizophrenia Patients. PMID:30077719
Non-coding RNAs: the riddle of the transcriptome and their perspectives in cancer. PMID:30069443
Single-cell RNA-seq uncovers dynamic processes and critical regulators in mouse spermatogenesis. PMID:30061742
exoRBase: a database of circRNA, lncRNA and mRNA in human blood exosomes. PMID:30053265
Mobile elements contribute to the uniqueness of human genome with 15,000 human-specific insertions and 14 Mbp sequence increase. PMID:30052927
PausePred and Rfeet: webtools for inferring ribosome pauses and visualizing footprint density from ribosome profiling data. PMID:30049792
Functional aspects of meningeal lymphatics in ageing and Alzheimer's disease. PMID:30046111
A patient-derived xenograft pre-clinical trial reveals treatment responses and a resistance mechanism to karonudib in metastatic melanoma. PMID:30042422
Coregulation of alternative splicing by hnRNPM and ESRP1 during EMT. PMID:30042172
Comprehensive map of age-associated splicing changes across human tissues and their contributions to age-associated diseases. PMID:30026530
Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal-derived interferon kappa. PMID:30021804
The Role of Long Non-coding RNAs in the Pathogenesis of RA, SLE, and SS. PMID:30018955
An Evolutionary Mechanism for the Generation of Competing RNA Structures Associated with Mutually Exclusive Exons. PMID:30018239
Matataki: an ultrafast mRNA quantification method for large-scale reanalysis of RNA-Seq data. PMID:30012088
Cancerin: A computational pipeline to infer cancer-associated ceRNA interaction networks. PMID:30011266
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy. PMID:30009487
Comparative genomic analysis of eutherian adiponectin genes. PMID:30003153
Downregulation of lncRNA OGFRP1 inhibits hepatocellular carcinoma progression by AKT/mTOR and Wnt/β-catenin signaling pathways. PMID:29997441
Prioritization and functional assessment of noncoding variants associated with complex diseases. PMID:29996888
A deep recurrent neural network discovers complex biological rules to decipher RNA protein-coding potential. PMID:29986088
Identification of transcribed protein coding sequence remnants within lincRNAs. PMID:29986053
Mettl1/Wdr4-Mediated m7G tRNA Methylome Is Required for Normal mRNA Translation and Embryonic Stem Cell Self-Renewal and Differentiation. PMID:29983320
Loose ends: almost one in five human genes still have unresolved coding status. PMID:29982784
Clinker: visualizing fusion genes detected in RNA-seq data. PMID:29982439
Principles for targeting RNA with drug-like small molecules. PMID:29977051
Consensus molecular subtype classification of colorectal adenomas. PMID:29968252
Extracellular vesicles in DLBCL provide abundant clues to aberrant transcriptional programming and genomic alterations. PMID:29967128
Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. PMID:29954844
Integrated pathogen load and dual transcriptome analysis of systemic host-pathogen interactions in severe malaria. PMID:29950443
COSSMO: predicting competitive alternative splice site selection using deep learning. PMID:29949959
Evidence for plant-derived xenomiRs based on a large-scale analysis of public small RNA sequencing data from human samples. PMID:29949574
Platforms for Investigating LncRNA Functions. PMID:29945466
Ribosome elongating footprints denoised by wavelet transform comprehensively characterize dynamic cellular translation events. PMID:29945224
Toward predictive R-loop computational biology: genome-scale prediction of R-loops reveals their association with complex promoter structures, G-quadruplexes and transcriptionally active enhancers. PMID:29945198
Neuronal integrity and complement control synaptic material clearance by microglia after CNS injury. PMID:29941548
Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources. PMID:29931155
Germline genetic variants were interactively associated with somatic alterations in gastric cancer. PMID:29923336
Identification of differential expressed lncRNAs in human thyroid cancer by a genome-wide analyses. PMID:29923329
Identifying autophagy gene-associated module biomarkers through construction and analysis of an autophagy-mediated ceRNA‑ceRNA interaction network in colorectal cancer. PMID:29916526
In silico read normalization using set multi-cover optimization. PMID:29912280
Integrative Analysis of Dysregulated lncRNA-Associated ceRNA Network Reveals Functional lncRNAs in Gastric Cancer. PMID:29912172
Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations. PMID:29895819
Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells. PMID:29893754
Multi-ethnic genome-wide association study for atrial fibrillation. PMID:29892015
Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood. PMID:29891976
Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation. PMID:29884752
Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes. PMID:29883787
High-resolution comparative analysis of great ape genomes. PMID:29880660
Chromatin Landscape Distinguishes the Genomic Loci of Hundreds of Androgen-Receptor-Associated LincRNAs From the Loci of Non-associated LincRNAs. PMID:29875794
Comprehensive comparative analysis of 5'-end RNA-sequencing methods. PMID:29867192
Ubiquitination of ABCE1 by NOT4 in Response to Mitochondrial Damage Links Co-translational Quality Control to PINK1-Directed Mitophagy. PMID:29861391
A Deep Learning Framework for Robust and Accurate Prediction of ncRNA-Protein Interactions Using Evolutionary Information. PMID:29858068
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs. PMID:29855537
Organoid Profiling Identifies Common Responders to Chemotherapy in Pancreatic Cancer. PMID:29853643
Computational analysis of ribonomics datasets identifies long non-coding RNA targets of γ-herpesviral miRNAs. PMID:29846699
From genome-wide associations to candidate causal variants by statistical fine-mapping. PMID:29844615
Identification and analysis of ribosome-associated lncRNAs using ribosome profiling data. PMID:29843593
Analysis of the androgen receptor-regulated lncRNA landscape identifies a role for ARLNC1 in prostate cancer progression. PMID:29808028
Genome-scale identification of transcription factors that mediate an inflammatory network during breast cellular transformation. PMID:29802342
Soluble inflammatory mediators induce transcriptional re-organization that is independent of dna methylation changes in cultured human chorionic villous trophoblasts. PMID:29800761
Towards a complete map of the human long non-coding RNA transcriptome. PMID:29795125
Non-coding RNAs in Various Stages of Liver Disease Leading to Hepatocellular Carcinoma: Differential Expression of miRNAs, piRNAs, lncRNAs, circRNAs, and sno/mt-RNAs. PMID:29789629
Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells. PMID:29789566
Variation in human chromosome 21 ribosomal RNA genes characterized by TAR cloning and long-read sequencing. PMID:29788454
LnChrom: a resource of experimentally validated lncRNA-chromatin interactions in human and mouse. PMID:29788225
Deep Surveying of the Transcriptional and Alternative Splicing Signatures for Decidual CD8+ T Cells at the First Trimester of Human Healthy Pregnancy. PMID:29780389
A long non-coding RNA signature for predicting survival in patients with colorectal cancer. PMID:29774095
GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits. PMID:29771388
Tumor-associated intronic editing of HNRPLL generates a novel splicing variant linked to cell proliferation. PMID:29769310
Influenza Virus Mounts a Two-Pronged Attack on Host RNA Polymerase II Transcription. PMID:29768209
Prediction of enhancer-promoter interactions via natural language processing. PMID:29764360
Identification of a 5‑lncRNA signature‑based risk scoring system for survival prediction in colorectal cancer. PMID:29749517
Long intergenic non-coding RNAs have an independent impact on survival in multiple myeloma. PMID:29749396
Regulation of osteogenesis by long noncoding RNAs: An epigenetic mechanism contributing to bone formation. PMID:29745821
An integrated view of the role of miR-130b/301b miRNA cluster in prostate cancer. PMID:29744254
MALAT1: a druggable long non-coding RNA for targeted anti-cancer approaches. PMID:29739426
Optimizing exosomal RNA isolation for RNA-Seq analyses of archival sera specimens. PMID:29738525
Functional Characterization of the Osteoarthritis Genetic Risk Residing at ALDH1A2 Identifies rs12915901 as a Key Target Variant. PMID:29732726
Deciphering the roles of lncRNAs in breast development and disease. PMID:29732012
MSIQ: JOINT MODELING OF MULTIPLE RNA-SEQ SAMPLES FOR ACCURATE ISOFORM QUANTIFICATION. PMID:29731954
RNA editing in nascent RNA affects pre-mRNA splicing. PMID:29724793
Molecular mechanisms of long noncoding RNAs and their role in disease pathogenesis. PMID:29719633
The fractured landscape of RNA-seq alignment: the default in our STARs. PMID:29718481
Relapse pathway of glioblastoma revealed by single-cell molecular analysis. PMID:29718126
FOCS: a novel method for analyzing enhancer and gene activity patterns infers an extensive enhancer-promoter map. PMID:29716618
An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation. PMID:29706346
Bayesian nonparametric discovery of isoforms and individual specific quantification. PMID:29703885
Predicting gene structure changes resulting from genetic variants via exon definition features. PMID:29701825
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. PMID:29700473
A compendium of long non-coding RNAs transcriptional fingerprint in multiple myeloma. PMID:29700321
Characterization of the enhancer and promoter landscape of inflammatory bowel disease from human colon biopsies. PMID:29695774
Identification of differential expression lncRNAs in gastric cancer using transcriptome sequencing and bioinformatics analyses. PMID:29693709
The exon-intron gene structure upstream of the initiation codon predicts translation efficiency. PMID:29684192
Mechanistic insights into anticancer properties of oligomeric proanthocyanidins from grape seeds in colorectal cancer. PMID:29684110
Distinct and Modular Organization of Protein Interacting Sites in Long Non-coding RNAs. PMID:29670884
Pan-cancer analysis of somatic mutations and transcriptomes reveals common functional gene clusters shared by multiple cancer types. PMID:29662161
Besides Pathology: Long Non-Coding RNA in Cell and Tissue Homeostasis. PMID:29657300
Rare Splice Variants in Long Non-Coding RNAs. PMID:29657294
Insights into the Function of Long Noncoding RNAs in Sepsis Revealed by Gene Co-Expression Network Analysis. PMID:29657277
Inference of the human polyadenylation code. PMID:29648582
PREDICTD PaRallel Epigenomics Data Imputation with Cloud-based Tensor Decomposition. PMID:29643364
Peripherally derived macrophages can engraft the brain independent of irradiation and maintain an identity distinct from microglia. PMID:29643186
Profiling expression of coding genes, long noncoding RNA, and circular RNA in lung adenocarcinoma by ribosomal RNA-depleted RNA sequencing. PMID:29632808
The Immune Landscape of Cancer. PMID:29628290
Recognition of the polycistronic nature of human genes is critical to understanding the genotype-phenotype relationship. PMID:29626081
iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization. PMID:29621297
iMETHYL: an integrative database of human DNA methylation, gene expression, and genomic variation. PMID:29619235
Dynamic changes during the treatment of pancreatic cancer. PMID:29599906
Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing. PMID:29598823
QAPA: a new method for the systematic analysis of alternative polyadenylation from RNA-seq data. PMID:29592814
Discovery of physiological and cancer-related regulators of 3' UTR processing with KAPAC. PMID:29592812
Single-Cell Digital Lysates Generated by Phase-Switch Microfluidic Device Reveal Transcriptome Perturbation of Cell Cycle. PMID:29589910
Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes. PMID:29563166
A comprehensive catalog of predicted functional upstream open reading frames in humans. PMID:29562350
De novo mutations in regulatory elements in neurodevelopmental disorders. PMID:29562236
Comparative transcriptome profiling of the human and mouse dorsal root ganglia: an RNA-seq-based resource for pain and sensory neuroscience research. PMID:29561359
The Ever-Evolving Concept of the Gene: The Use of RNA/Protein Experimental Techniques to Understand Genome Functions. PMID:29560353
Evaluation of two main RNA-seq approaches for gene quantification in clinical RNA sequencing: polyA+ selection versus rRNA depletion. PMID:29556074
Bivalent Chromatin Domains in Glioblastoma Reveal a Subtype-Specific Signature of Glioma Stem Cells. PMID:29549165
Long non-coding RNAs regulating macrophage functions in homeostasis and disease. PMID:29548902
Genomic positional conservation identifies topological anchor point RNAs linked to developmental loci. PMID:29540241
Unveiling new interdependencies between significant DNA methylation sites, gene expression profiles and glioma patients survival. PMID:29535343
POLARIS: Polygenic LD-adjusted risk score approach for set-based analysis of GWAS data. PMID:29532500
Effects of Cadmium Exposure on DNA Methylation at Imprinting Control Regions and Genome-Wide in Mothers and Newborn Children. PMID:29529597
ChIP-ping the branches of the tree: functional genomics and the evolution of eukaryotic gene regulation. PMID:29529131
Global analysis of A-to-I RNA editing reveals association with common disease variants. PMID:29527417
The pseudogene-derived long non-coding RNA SFTA1P suppresses cell proliferation, migration, and invasion in gastric cancer. PMID:29523596
AltHapAlignR: improved accuracy of RNA-seq analyses through the use of alternative haplotypes. PMID:29514179
A large electronic-health-record-based genome-wide study of serum lipids. PMID:29507422
TERIUS: accurate prediction of lncRNA via high-throughput sequencing data representing RNA-binding protein association. PMID:29504902
Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits. PMID:29500431
Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow. PMID:29500430
Identification of long noncoding RNAs involved in muscle differentiation. PMID:29499054
Data Mining of Small RNA-Seq Suggests an Association Between Prostate Cancer and Altered Abundance of 5' Transfer RNA Halves in Seminal Fluid and Prostatic Tissues. PMID:29497340
Novel and Haplotype Specific MicroRNAs Encoded by the Major Histocompatibility Complex. PMID:29497078
The Role of Long Non-Coding RNAs in Hepatocarcinogenesis. PMID:29495592
PAN-cancer analysis of S-phase enriched lncRNAs identifies oncogenic drivers and biomarkers. PMID:29491376
Oligomeric proanthocyanidins (OPCs) target cancer stem-like cells and suppress tumor organoid formation in colorectal cancer. PMID:29463813
Dynamics of promoter bivalency and RNAP II pausing in mouse stem and differentiated cells. PMID:29458328
Autologous iPSC-Based Vaccines Elicit Anti-tumor Responses In Vivo. PMID:29456158
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures. PMID:29444904
A Recurrent Mutation in Anaplastic Lymphoma Kinase with Distinct Neoepitope Conformations. PMID:29441070
The effects of death and post-mortem cold ischemia on human tissue transcriptomes. PMID:29440659
Multi-Omics Driven Assembly and Annotation of the Sandalwood (Santalum album) Genome. PMID:29440596
An epigenomic approach to identifying differential overlapping and cis-acting lncRNAs in cisplatin-resistant cancer cells. PMID:29436261
Non-coding RNAs and retroviruses. PMID:29426337
A phenotype centric benchmark of variant prioritisation tools. PMID:29423277
Small non-coding RNA profiling in human biofluids and surrogate tissues from healthy individuals: description of the diverse and most represented species. PMID:29423032
Estimating the mutational load for cardiovascular diseases in Pakistani population. PMID:29420653
Enhancer redundancy provides phenotypic robustness in mammalian development. PMID:29420474
Region-Specific Methylation Profiling in Acute Myeloid Leukemia. PMID:29405013
Long non-coding and coding RNAs characterization in Peripheral Blood Mononuclear Cells and Spinal Cord from Amyotrophic Lateral Sclerosis patients. PMID:29402919
Crosstalk between long non-coding RNAs and Wnt/β-catenin signalling in cancer. PMID:29392884
Non-coding RNA dysregulation in the amygdala region of schizophrenia patients contributes to the pathogenesis of the disease. PMID:29391398
Stop codon readthrough generates a C-terminally extended variant of the human vitamin D receptor with reduced calcitriol response. PMID:29386352
Age-Associated Decline in Thymic B Cell Expression of Aire and Aire-Dependent Self-Antigens. PMID:29386114
Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response. PMID:29379200
Mitotically-Associated lncRNA (MANCR) Affects Genomic Stability and Cell Division in Aggressive Breast Cancer. PMID:29378907
Identifying and exploiting trait-relevant tissues with multiple functional annotations in genome-wide association studies. PMID:29377896
Long non-coding RNA MDC1-AS inhibits human gastric cancer cell proliferation and metastasis through an MDC1-dependent mechanism. PMID:29375682
Evidence for a Pan-Neurodegenerative Disease Response in Huntington's and Parkinson's Disease Expression Profiles. PMID:29375298
Over-expression of oncigenic pesudogene DUXAP10 promotes cell proliferation and invasion by regulating LATS1 and β-catenin in gastric cancer. PMID:29374493
Functional Classification and Experimental Dissection of Long Noncoding RNAs. PMID:29373828
Biologically active constituents of the secretome of human W8B2+ cardiac stem cells. PMID:29371689
Expression profiling of snoRNAs in normal hematopoiesis and AML. PMID:29365324
Life under the Microscope: Single-Molecule Fluorescence Highlights the RNA World. PMID:29363314
Integrated analysis of single-cell embryo data yields a unified transcriptome signature for the human pre-implantation epiblast. PMID:29361568
CCR5 Governs DNA Damage Repair and Breast Cancer Stem Cell Expansion. PMID:29358169
Ultraconserved Enhancers Are Required for Normal Development. PMID:29358049
Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival. PMID:29354286
Integrative Genomic Analysis Predicts Causative Cis-Regulatory Mechanisms of the Breast Cancer-Associated Genetic Variant rs4415084. PMID:29351903
Elucidating distinct ion channel populations on the surface of hippocampal neurons via single-particle tracking recurrence analysis. PMID:29347346
Natural antisense transcripts in diseases: From modes of action to targeted therapies. PMID:29341438
Targeting IRF3 as a YAP agonist therapy against gastric cancer. PMID:29339449
LncMAP: Pan-cancer atlas of long noncoding RNA-mediated transcriptional network perturbations. PMID:29325141
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes. PMID:29311636
Novel Transcriptional Activity and Extensive Allelic Imbalance in the Human MHC Region. PMID:29311362
The Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis. PMID:29307494
HOTAIR Long Non-coding RNA: Characterizing the Locus Features by the In Silico Approaches. PMID:29307144
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. PMID:29290337
Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. PMID:29290336
Principles and methods of in-silico prioritization of non-coding regulatory variants. PMID:29288389
Clinicopathological and Prognostic Role of Long Noncoding RNA Linc00152 in Various Human Neoplasms: Evidence from Meta-Analysis. PMID:29285514
Bidirectional transcription initiation marks accessible chromatin and is not specific to enhancers. PMID:29284524
DE-kupl: exhaustive capture of biological variation in RNA-seq data through k-mer decomposition. PMID:29284518
Intergenic disease-associated regions are abundant in novel transcripts. PMID:29284497
Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing. PMID:29279608
The Hidden Genomic and Transcriptomic Plasticity of Giant Marker Chromosomes in Cancer. PMID:29279323
Long Noncoding RNA in Cancer: Wiring Signaling Circuitry. PMID:29274663
An integrated and comparative approach towards identification, characterization and functional annotation of candidate genes for drought tolerance in sorghum (Sorghum bicolor (L.) Moench). PMID:29273003
RNA-Seq differential expression analysis: An extended review and a software tool. PMID:29267363
Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network. PMID:29262782
Transcriptomic analysis of mitochondrial TFAM depletion changing cell morphology and proliferation. PMID:29259235
Resolving systematic errors in widely used enhancer activity assays in human cells. PMID:29256496
Beyond Transcription: Roles of Transcription Factors in Pre-mRNA Splicing. PMID:29251915
Oncogenic Role of THOR, a Conserved Cancer/Testis Long Non-coding RNA. PMID:29245011
Collaborative representation-based classification of microarray gene expression data. PMID:29236759
Genomic and Epigenomic Signatures in Ovarian Cancer Associated with Resensitization to Platinum Drugs. PMID:29229600
Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort. PMID:29228364
RNAStructuromeDB: A genome-wide database for RNA structural inference. PMID:29222504
A comprehensive profile of circulating RNAs in human serum. PMID:29219730
Network analysis of pseudogene-gene relationships: from pseudogene evolution to their functional potentials. PMID:29218912
Light-focusing human micro-lenses generated from pluripotent stem cells model lens development and drug-induced cataract in vitro. PMID:29217756
Transcriptomic profiles in peripheral blood between women with unexplained recurrent implantation failure and recurrent miscarriage and the correlation with endometrium: A pilot study. PMID:29216287
LRSim: A Linked-Reads Simulator Generating Insights for Better Genome Partitioning. PMID:29213995
Ginkgo biloba extract EGb 761-induced upregulation of LincRNA-p21 inhibits colorectal cancer metastasis by associating with EZH2. PMID:29207671
Crosstalk in competing endogenous RNA network reveals the complex molecular mechanism underlying lung cancer. PMID:29207642
Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome. PMID:29196558
circlncRNAnet: an integrated web-based resource for mapping functional networks of long or circular forms of noncoding RNAs. PMID:29194536
A multiregional proteomic survey of the postnatal human brain. PMID:29184206
Transcriptome sequencing reveals high isoform diversity in the ant Formica exsecta. PMID:29177112
Rare copy number variants identified in prune belly syndrome. PMID:29174092
Molecular and cellular reorganization of neural circuits in the human lineage. PMID:29170230
Protein complex scaffolding predicted as a prevalent function of long non-coding RNAs. PMID:29165713
Partial bisulfite conversion for unique template sequencing. PMID:29161423
Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data. PMID:29161273
Long non-coding RNAs in Colorectal Cancer: Progression and Future Directions. PMID:29158793
The discovery potential of RNA processing profiles. PMID:29155959
Ensembl 2018. PMID:29155950
Modeling positional effects of regulatory sequences with spline transformations increases prediction accuracy of deep neural networks. PMID:29155928
Decoding critical long non-coding RNA in ovarian cancer epithelial-to-mesenchymal transition. PMID:29150601
Human Accelerated Regions and Other Human-Specific Sequence Variations in the Context of Evolution and Their Relevance for Brain Development. PMID:29149249
Functional annotation of structural ncRNAs within enhancer RNAs in the human genome: implications for human disease. PMID:29138457
Long noncoding RNA XIST is a prognostic factor in colorectal cancer and inhibits 5-fluorouracil-induced cell cytotoxicity through promoting thymidylate synthase expression. PMID:29137332
Arid1a Has Context-Dependent Oncogenic and Tumor Suppressor Functions in Liver Cancer. PMID:29136504
Deep RNA Sequencing Uncovers a Repertoire of Human Macrophage Long Intergenic Noncoding RNAs Modulated by Macrophage Activation and Associated With Cardiometabolic Diseases. PMID:29133519
Cis-SNPs Set Testing and PrediXcan Analysis for Gene Expression Data using Linear Mixed Models. PMID:29127305
KSRP specifies monocytic and granulocytic differentiation through regulating miR-129 biogenesis and RUNX1 expression. PMID:29127290
The Encyclopedia of DNA elements (ENCODE): data portal update. PMID:29126249
Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation. PMID:29126148
MOAT: efficient detection of highly mutated regions with the Mutations Overburdening Annotations Tool. PMID:29121169
The effect of genetic variation on promoter usage and enhancer activity. PMID:29116076
Genome-wide association study identifies a novel locus for cannabis dependence. PMID:29112194
Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors. PMID:29109393
Reduced mutation rate in exons due to differential mismatch repair. PMID:29106418
High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing. PMID:29106417
Identification and Analysis of P53-Mediated Competing Endogenous RNA Network in Human Hepatocellular Carcinoma. PMID:29104512
A functional strategy to characterize expression Quantitative Trait Loci. PMID:29101457
A Long Noncoding RNA Signature That Predicts Pathological Complete Remission Rate Sensitively in Neoadjuvant Treatment of Breast Cancer. PMID:29096247
Two independent modes of chromatin organization revealed by cohesin removal. PMID:29094699
The ISB Cancer Genomics Cloud: A Flexible Cloud-Based Platform for Cancer Genomics Research. PMID:29092928
Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system. PMID:29087374
Promoter-level transcriptome in primary lesions of endometrial cancer identified biomarkers associated with lymph node metastasis. PMID:29074988
Defining the location of promoter-associated R-loops at near-nucleotide resolution using bisDRIP-seq. PMID:29072160
Lnc2Meth: a manually curated database of regulatory relationships between long non-coding RNAs and DNA methylation associated with human disease. PMID:29069510
APPRIS 2017: principal isoforms for multiple gene sets. PMID:29069475
OverGeneDB: a database of 5' end protein coding overlapping genes in human and mouse genomes. PMID:29069459
Gene isoforms as expression-based biomarkers predictive of drug response in vitro. PMID:29066719
A heuristic model for computational prediction of human branch point sequence. PMID:29065858
Association analysis identifies 65 new breast cancer risk loci. PMID:29059683
dreamBase: DNA modification, RNA regulation and protein binding of expressed pseudogenes in human health and disease. PMID:29059382
CirGRDB: a database for the genome-wide deciphering circadian genes and regulators. PMID:29059379
Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues. PMID:29058714
Laser Capture and Deep Sequencing Reveals the Transcriptomic Programmes Regulating the Onset of Pancreas and Liver Differentiation in Human Embryos. PMID:29056335
LncRNAs: key players and novel insights into diabetes mellitus. PMID:29050364
A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. PMID:29047230
RMBase v2.0: deciphering the map of RNA modifications from epitranscriptome sequencing data. PMID:29040692
Comprehensive analysis of circRNA expression profiles in humans by RAISE. PMID:29039477
A High-Resolution Genome-Wide CRISPR/Cas9 Viability Screen Reveals Structural Features and Contextual Diversity of the Human Cell-Essential Proteome. PMID:29038160
cuRRBS: simple and robust evaluation of enzyme combinations for reduced representation approaches. PMID:29036576
PLncPRO for prediction of long non-coding RNAs (lncRNAs) in plants and its application for discovery of abiotic stress-responsive lncRNAs in rice and chickpea. PMID:29036354
Integrative Analysis of Transcription Factor Combinatorial Interactions Using a Bayesian Tensor Factorization Approach. PMID:29033978
Microarray Analysis Identifies the Potential Role of Long Non-Coding RNA in Regulating Neuroinflammation during Japanese Encephalitis Virus Infection. PMID:29033949
Inference of RNA decay rate from transcriptional profiling highlights the regulatory programs of Alzheimer's disease. PMID:29030541
Single-cell gene expression analysis reveals regulators of distinct cell subpopulations among developing human neurons. PMID:29030469
Segway 2.0: Gaussian mixture models and minibatch training. PMID:29028889
Network modeling of kinase inhibitor polypharmacology reveals pathways targeted in chemical screens. PMID:29023490
The lncRNA TUG1 modulates proliferation in trophoblast cells via epigenetic suppression of RND3. PMID:29022920
Antigen receptor repertoire profiling from RNA-seq data. PMID:29020005
Data Resources for Human Functional Genomics. PMID:28989986
Exon Mapping in Long Noncoding RNAs Using Digital Filters. PMID:28989280
High-Throughput Approaches to Pinpoint Function within the Noncoding Genome. PMID:28985510
Frequent miRNA-convergent fusion gene events in breast cancer. PMID:28983113
Genome-scale detection of positive selection in nine primates predicts human-virus evolutionary conflicts. PMID:28977405
Analysis of primary microRNA loci from nascent transcriptomes reveals regulatory domains governed by chromatin architecture. PMID:28973462
Accurate and reproducible functional maps in 127 human cell types via 2D genome segmentation. PMID:28973456
DART: a fast and accurate RNA-seq mapper with a partitioning strategy. PMID:28968831
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. PMID:28965845
Interaction between Social/Psychosocial Factors and Genetic Variants on Body Mass Index: A Gene-Environment Interaction Analysis in a Longitudinal Setting. PMID:28961216
Pan-cancer transcriptomic analysis associates long non-coding RNAs with key mutational driver events. PMID:28959951
Human hepatic gene expression signature of non-alcoholic fatty liver disease progression, a meta-analysis. PMID:28955037
HLAProfiler utilizes k-mer profiles to improve HLA calling accuracy for rare and common alleles in RNA-seq data. PMID:28954626
Identification of hub genes involved in the development of hepatocellular carcinoma by transcriptome sequencing. PMID:28947976
Genome-Wide Interactions with Dairy Intake for Body Mass Index in Adults of European Descent. PMID:28941034
START: a system for flexible analysis of hundreds of genomic signal tracks in few lines of SQL-like queries. PMID:28938868
A novel lncRNA, LL22NC03-N64E9.1, represses KLF2 transcription through binding with EZH2 in colorectal cancer. PMID:28938648
A multidimensional blood stimulation assay reveals immune alterations underlying systemic juvenile idiopathic arthritis. PMID:28935693
CLIP-seq analysis of multi-mapped reads discovers novel functional RNA regulatory sites in the human transcriptome. PMID:28934506
5-Hydroxymethylcytosine signatures in circulating cell-free DNA as diagnostic biomarkers for human cancers. PMID:28925386
The Function and Therapeutic Potential of Long Non-coding RNAs in Cardiovascular Development and Disease. PMID:28918050
Strategies for In Vivo Screening and Mitigation of Hepatotoxicity Associated with Antisense Drugs. PMID:28918038
An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure. PMID:28913923
Discriminating cirRNAs from other lncRNAs using a hierarchical extreme learning machine (H-ELM) algorithm with feature selection. PMID:28913654
Long non-coding RNA SeT and miR-155 regulate the Tnfα gene allelic expression profile. PMID:28910376
Acute doses of caffeine shift nervous system cell expression profiles toward promotion of neuronal projection growth. PMID:28904364
Catalog of Differentially Expressed Long Non-Coding RNA following Activation of Human and Mouse Innate Immune Response. PMID:28900427
Assessment of T-cell receptor repertoire and clonal expansion in peripheral T-cell lymphoma using RNA-seq data. PMID:28900149
LEF1-AS1, a long-noncoding RNA, promotes malignancy in glioblastoma. PMID:28894380
Regulation of the glucocorticoid receptor via a BET-dependent enhancer drives antiandrogen resistance in prostate cancer. PMID:28891793
Identification of high-confidence RNA regulatory elements by combinatorial classification of RNA-protein binding sites. PMID:28886744
Pulmonary endothelial cell DNA methylation signature in pulmonary arterial hypertension. PMID:28881789
Up-regulation of long non-coding RNA SPRY4-IT1 promotes tumor cell migration and invasion in lung adenocarcinoma. PMID:28881629
LncRNA ZNF503-AS1 promotes RPE differentiation by downregulating ZNF503 expression. PMID:28880276
An in-silico approach to predict and exploit synthetic lethality in cancer metabolism. PMID:28878380
Non-parametric genetic prediction of complex traits with latent Dirichlet process regression models. PMID:28878256
APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism. PMID:28878238
Atropos: specific, sensitive, and speedy trimming of sequencing reads. PMID:28875074
The Schistosoma mansoni genome encodes thousands of long non-coding RNAs predicted to be functional at different parasite life-cycle stages. PMID:28874839
Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer. PMID:28874753
Biology and clinical relevance of noncoding sno/scaRNAs. PMID:28869095
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. PMID:28867141
Genome-wide computational analysis of potential long noncoding RNA mediated DNA:DNA:RNA triplexes in the human genome. PMID:28865451
Regulation of Noncoding Transcriptome in Developing Photoreceptors by Rod Differentiation Factor NRL. PMID:28863214
Identification of dysregulated lncRNAs profiling and metastasis-associated lncRNAs in colorectal cancer by genome-wide analysis. PMID:28857495
Noncoding RNAs in neurodegeneration. PMID:28855739
RNA-seq reveals more consistent reference genes for gene expression studies in human non-melanoma skin cancers. PMID:28852586
FANTOM5 CAGE profiles of human and mouse reprocessed for GRCh38 and GRCm38 genome assemblies. PMID:28850105
Public antibodies to malaria antigens generated by two LAIR1 insertion modalities. PMID:28847005
Two modes of targeting transposable elements by piRNA pathway in human testis. PMID:28842508
Integrated analysis of long non-coding RNAs in human gastric cancer: An in silico study. PMID:28841672
Characterization of lincRNA expression in the human retinal pigment epithelium and differentiated induced pluripotent stem cells. PMID:28837677
An integrated expression atlas of miRNAs and their promoters in human and mouse. PMID:28829439
Transcriptome analysis reveals long intergenic non-coding RNAs involved in skeletal muscle growth and development in pig. PMID:28821716
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics. PMID:28815929
Understanding the Role of lncRNAs in Nervous System Development. PMID:28815543
Omni-PolyA: a method and tool for accurate recognition of Poly(A) signals in human genomic DNA. PMID:28810905
Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing. PMID:28808973
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. PMID:28808237
Identification and characterization of a long non-coding RNA up-regulated during HIV-1 infection. PMID:28803142
Molecular pathogenesis of human prostate basal cell hyperplasia. PMID:28795417
The non-coding RNA landscape of human hematopoiesis and leukemia. PMID:28794406
Downregulation of lncRNA SDPR-AS is associated with poor prognosis in renal cell carcinoma. PMID:28790838
Long non-coding RNA and tumor hypoxia: new players ushered toward an old arena. PMID:28789687
Evaluation and comparison of computational tools for RNA-seq isoform quantification. PMID:28784092
SuperTranscripts: a data driven reference for analysis and visualisation of transcriptomes. PMID:28778180
Integrative whole-genome sequence analysis reveals roles of regulatory mutations in BCL6 and BCL2 in follicular lymphoma. PMID:28765546
Beyond mRNA: The role of non-coding RNAs in normal and aberrant hematopoiesis. PMID:28757239
High resolution temporal transcriptomics of mouse embryoid body development reveals complex expression dynamics of coding and noncoding loci. PMID:28751729
Identification of novel prostate cancer drivers using RegNetDriver: a framework for integration of genetic and epigenetic alterations with tissue-specific regulatory network. PMID:28750683
Detecting epistasis with the marginal epistasis test in genetic mapping studies of quantitative traits. PMID:28746338
Identification of four prognostic LncRNAs for survival prediction of patients with hepatocellular carcinoma. PMID:28729955
Gene expression reversal toward pre-adult levels in the aging human brain and age-related loss of cellular identity. PMID:28724976
Bioinformatics analysis to identify the critical genes, microRNAs and long noncoding RNAs in melanoma. PMID:28723760
microRNA dependent and independent deregulation of long non-coding RNAs by an oncogenic herpesvirus. PMID:28715488
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. PMID:28695822
Strength of functional signature correlates with effect size in autism. PMID:28687074
Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis. PMID:28680106
Landscape and variation of novel retroduplications in 26 human populations. PMID:28662076
Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. PMID:28655895
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders. PMID:28649538
A genome-wide association scan of biological processes involved in oral lichen planus and oral squamous cell carcinoma. PMID:28640079
Long Noncoding RNAs as Biomarkers in Cancer. PMID:28634418
The islet-resident macrophage is in an inflammatory state and senses microbial products in blood. PMID:28630088
Chromatin-enriched lncRNAs can act as cell-type specific activators of proximal gene transcription. PMID:28628087
Insights from Global Analyses of Long Noncoding RNAs in Breast Cancer. PMID:28616363
Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls. PMID:28606096
Genetic diagnosis of Mendelian disorders via RNA sequencing. PMID:28604674
Computational prediction of lncRNA-mRNA interactionsby integrating tissue specificity in human transcriptome. PMID:28595592
A DNA methylation map of human cancer at single base-pair resolution. PMID:28581523
Long Noncoding RNA Moderates MicroRNA Activity to Maintain Self-Renewal in Embryonic Stem Cells. PMID:28579393
Research focused on microRNAs: a link between myocardial remodeling and growth during pathological processes and physical exercises. PMID:28567402
Genome annotation for clinical genomic diagnostics: strengths and weaknesses. PMID:28558813
Nucleus-Translocated ACSS2 Promotes Gene Transcription for Lysosomal Biogenesis and Autophagy. PMID:28552616
Reducing mitochondrial reads in ATAC-seq using CRISPR/Cas9. PMID:28550296
Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations. PMID:28548104
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. PMID:28548082
The NANCI-Nkx2.1 gene duplex buffers Nkx2.1 expression to maintain lung development and homeostasis. PMID:28546511
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. PMID:28539665
Identification and Characterization of a Class of MALAT1-like Genomic Loci. PMID:28538188
A computationally constructed ceRNA interaction network based on a comparison of the SHEE and SHEEC cell lines. PMID:28536623
Prognostic and biological significance of the proangiogenic factor EGFL7 in acute myeloid leukemia. PMID:28533390
Coordinates and intervals in graph-based reference genomes. PMID:28521770
Functionally diverse human T cells recognize non-microbial antigens presented by MR1. PMID:28518056
Intranuclear and higher-order chromatin organization of the major histone gene cluster in breast cancer. PMID:28504305
Prediction of gene expression with cis-SNPs using mixed models and regularization methods. PMID:28490319
Recurrent promoter mutations in melanoma are defined by an extended context-specific mutational signature. PMID:28489852
Common genetic variation drives molecular heterogeneity in human iPSCs. PMID:28489815
Selective expression of long non-coding RNAs in a breast cancer cell progression model. PMID:28488769
The identification and functional annotation of RNA structures conserved in vertebrates. PMID:28487280
Soft Sweeps Are the Dominant Mode of Adaptation in the Human Genome. PMID:28482049
Comparative transcriptomics in human and mouse. PMID:28479595
Genome-scale measurement of off-target activity using Cas9 toxicity in high-throughput screens. PMID:28474669
Mapping the human DC lineage through the integration of high-dimensional techniques. PMID:28473638
Prognostic and biologic significance of long non-coding RNA profiling in younger adults with cytogenetically normal acute myeloid leukemia. PMID:28473620
Exploring genetic associations with ceRNA regulation in the human genome. PMID:28472449
RegulatorTrail: a web service for the identification of key transcriptional regulators. PMID:28472408
Prolonged Absence of Mechanoluminal Stimulation in Human Intestine Alters the Transcriptome and Intestinal Stem Cell Niche. PMID:28462379
RIblast: an ultrafast RNA-RNA interaction prediction system based on a seed-and-extension approach. PMID:28459942
A comprehensive analysis of cancer-driving mutations and genes in kidney cancer. PMID:28454375
Accumulation of GAS5 in exosomes is a marker of apoptosis induction. PMID:28451400
Orphan CpG islands define a novel class of highly active enhancers. PMID:28448736
A three-lncRNA expression signature associated with the prognosis of gastric cancer patients. PMID:28444881
Over-expressed long noncoding RNA HOXA11-AS promotes cell cycle progression and metastasis in gastric cancer. PMID:28441948
Normalized long read RNA sequencing in chicken reveals transcriptome complexity similar to human. PMID:28438136
Non-coding RNAs in cardiovascular diseases: diagnostic and therapeutic perspectives. PMID:28430919
Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci. PMID:28426890
Novel lincRNA SLINKY is a prognostic biomarker in kidney cancer. PMID:28423633
Genetic sequence-based prediction of long-range chromatin interactions suggests a potential role of short tandem repeat sequences in genome organization. PMID:28420341
Exploring the molecular pathogenesis and biomarkers of high risk oral premalignant lesions on the basis of long noncoding RNA expression profiling by serial analysis of gene expression. PMID:28418939
Runx1 stabilizes the mammary epithelial cell phenotype and prevents epithelial to mesenchymal transition. PMID:28407681
SnoVault and encodeD: A novel object-based storage system and applications to ENCODE metadata. PMID:28403240
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. PMID:28396521
High-confidence coding and noncoding transcriptome maps. PMID:28396519
Exploring functions of long noncoding RNAs across multiple cancers through co-expression network. PMID:28389669
De novo RNA sequence assembly during in vivo inflammatory stress reveals hundreds of unannotated lincRNAs in human blood CD14+ monocytes and in adipose tissue. PMID:28389524
Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells. PMID:28388430
Aberrant DNA Methylation in Human iPSCs Associates with MYC-Binding Motifs in a Clone-Specific Manner Independent of Genetics. PMID:28388429
LncATLAS database for subcellular localization of long noncoding RNAs. PMID:28386015
Nicotinic alpha 7 receptor expression and modulation of the lung epithelial response to lipopolysaccharide. PMID:28384302
Brain Transcriptome Sequencing of a Natural Model of Alzheimer's Disease. PMID:28373841
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. PMID:28369036
Exploiting Long Noncoding RNAs as Pharmacological Targets to Modulate Epigenetic Diseases. PMID:28356895
Dietary restriction protects from age-associated DNA methylation and induces epigenetic reprogramming of lipid metabolism. PMID:28351387
Dengue virus NS2B protein targets cGAS for degradation and prevents mitochondrial DNA sensing during infection. PMID:28346446
DeepBlueR: large-scale epigenomic analysis in R. PMID:28334349
QRank: a novel quantile regression tool for eQTL discovery. PMID:28334222
Network perturbation by recurrent regulatory variants in cancer. PMID:28333928
CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells. PMID:28321286
Time-dependent genetic effects on gene expression implicate aging processes. PMID:28302734
The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. PMID:28301587
Developing a Novel Two-Dimensional Culture System to Enrich Human Prostate Luminal Progenitors that Can Function as a Cell of Origin for Prostate Cancer. PMID:28297567
Comprehensive RNA-seq transcriptomic profiling in the malignant progression of gliomas. PMID:28291232
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data. PMID:28288115
The birth of a human-specific neural gene by incomplete duplication and gene fusion. PMID:28279197
TT-seq captures enhancer landscapes immediately after T-cell stimulation. PMID:28270558
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites. PMID:28263315
GuideScan software for improved single and paired CRISPR guide RNA design. PMID:28263296
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. PMID:28260531
Scalable Design of Paired CRISPR Guide RNAs for Genomic Deletion. PMID:28253259
Uncovering the roles of long non-coding RNAs in cancer stem cells. PMID:28245841
An atlas of human long non-coding RNAs with accurate 5' ends. PMID:28241135
Impacts of Neanderthal-Introgressed Sequences on the Landscape of Human Gene Expression. PMID:28235201
Evolution of Brain Active Gene Promoters in Human Lineage Towards the Increased Plasticity of Gene Regulation. PMID:28233272
CLK-dependent exon recognition and conjoined gene formation revealed with a novel small molecule inhibitor. PMID:28232751
Comparative genomic analysis of eutherian kallikrein genes. PMID:28224083
Distal CpG islands can serve as alternative promoters to transcribe genes with silenced proximal promoters. PMID:28223400
Manananggal - a novel viewer for alternative splicing events. PMID:28222683
Large-Scale Analysis of CRISPR/Cas9 Cell-Cycle Knockouts Reveals the Diversity of p53-Dependent Responses to Cell-Cycle Defects. PMID:28216383
Long Noncoding RNA LINC00673 Is Activated by SP1 and Exerts Oncogenic Properties by Interacting with LSD1 and EZH2 in Gastric Cancer. PMID:28214253
Epigenetic Landscape during Coronavirus Infection. PMID:28212305
Long noncoding AGAP2-AS1 is activated by SP1 and promotes cell proliferation and invasion in gastric cancer. PMID:28209205
Recurrently deregulated lncRNAs in hepatocellular carcinoma. PMID:28194035
Improved regulatory element prediction based on tissue-specific local epigenomic signatures. PMID:28193886
Long Noncoding RNAs: At the Intersection of Cancer and Chromatin Biology. PMID:28193769
Large-scale bioactivity analysis of the small-molecule assayed proteome. PMID:28178331
Dnmt3a restrains mast cell inflammatory responses. PMID:28167789
LocExpress: a web server for efficiently estimating expression of novel transcripts. PMID:28155723
DeepGene: an advanced cancer type classifier based on deep learning and somatic point mutations. PMID:28155641
Long noncoding RNA expression signature to predict platinum-based chemotherapeutic sensitivity of ovarian cancer patients. PMID:28154416
Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom. PMID:28145424
Discovery of Cancer Driver Long Noncoding RNAs across 1112 Tumour Genomes: New Candidates and Distinguishing Features. PMID:28128360
Correlated 5-Hydroxymethylcytosine (5hmC) and Gene Expression Profiles Underpin Gene and Organ-Specific Epigenetic Regulation in Adult Mouse Brain and Liver. PMID:28125731
Immunobiology of Long Noncoding RNAs. PMID:28125358
Lncident: A Tool for Rapid Identification of Long Noncoding RNAs Utilizing Sequence Intrinsic Composition and Open Reading Frame Information. PMID:28116287
Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework. PMID:28115622
The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle. PMID:28115490
Tethered Oligonucleotide-Primed Sequencing, TOP-Seq: A High-Resolution Economical Approach for DNA Epigenome Profiling. PMID:28111014
Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat. PMID:28102759
Mitochondrial respiratory gene expression is suppressed in many cancers. PMID:28099114
Identification of Potential Key lncRNAs and Genes Associated with Aging Based on Microarray Data of Adipocytes from Mice. PMID:28097151
Down-Regulation of EPAS1 Transcription and Genetic Adaptation of Tibetans to High-Altitude Hypoxia. PMID:28096303
Massive Effect on LncRNAs in Human Monocytes During Fungal and Bacterial Infections and in Response to Vitamins A and D. PMID:28094339
Insertions and Deletions Target Lineage-Defining Genes in Human Cancers. PMID:28089356
RAIN: RNA-protein Association and Interaction Networks. PMID:28077569
Integrated RNA-seq and DNase-seq analyses identify phenotype-specific BMP4 signaling in breast cancer. PMID:28077088
Long noncoding RNA repertoire in chicken liver and adipose tissue. PMID:28073357
A potential prognostic lncRNA signature for predicting survival in patients with bladder urothelial carcinoma. PMID:28060759
Genome-Wide DNA Methylation Patterns Analysis of Noncoding RNAs in Temporal Lobe Epilepsy Patients. PMID:28058582
The long non-coding RNA NEAT1 is responsive to neuronal activity and is associated with hyperexcitability states. PMID:28054653
POSTAR: a platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins. PMID:28053162
FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome. PMID:28053114
Functional Transcriptomics in Diverse Intestinal Epithelial Cell Types Reveals Robust MicroRNA Sensitivity in Intestinal Stem Cells to Microbial Status. PMID:28053090
ChimPipe: accurate detection of fusion genes and transcription-induced chimeras from RNA-seq data. PMID:28049418
Long Noncoding RNA Identification: Comparing Machine Learning Based Tools for Long Noncoding Transcripts Discrimination. PMID:28042575
Human splicing diversity and the extent of unannotated splice junctions across human RNA-seq samples on the Sequence Read Archive. PMID:28038678
Involvement of Host Non-Coding RNAs in the Pathogenesis of the Influenza Virus. PMID:28035991
Non-Coding RNAs in Lung Cancer: Contribution of Bioinformatics Analysis to the Development of Non-Invasive Diagnostic Tools. PMID:28035947
Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci. PMID:28035019
Androgen-induced lncRNA POTEF-AS1 regulates apoptosis-related pathway to facilitate cell survival in prostate cancer cells. PMID:28032932
Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder. PMID:28030643
Down syndrome and the complexity of genome dosage imbalance. PMID:28029161
GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics. PMID:28025344
Genome-wide mapping of autonomous promoter activity in human cells. PMID:28024146
High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE. PMID:28011790
Role of lncRNAs in Cellular Aging. PMID:27999563
Characterization of meningeal type 2 innate lymphocytes and their response to CNS injury. PMID:27994070
Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes. PMID:27986821
A cloud-based workflow to quantify transcript-expression levels in public cancer compendia. PMID:27982081
Integrating Epigenomics into the Understanding of Biomedical Insight. PMID:27980397
Large-scale mapping of mammalian transcriptomes identifies conserved genes associated with different cell states. PMID:27980097
Activin/Smad2-induced Histone H3 Lys-27 Trimethylation (H3K27me3) Reduction Is Crucial to Initiate Mesendoderm Differentiation of Human Embryonic Stem Cells. PMID:27965357
Non-CpG methylation by DNMT3B facilitates REST binding and gene silencing in developing mouse hearts. PMID:27956497
A GC-rich sequence feature in the 3' UTR directs UPF1-dependent mRNA decay in mammalian cells. PMID:27940950
Chromatin environment, transcriptional regulation, and splicing distinguish lincRNAs and mRNAs. PMID:27927715
ChIPBase v2.0: decoding transcriptional regulatory networks of non-coding RNAs and protein-coding genes from ChIP-seq data. PMID:27924033
Transcriptome and long noncoding RNA sequencing of three extracellular vesicle subtypes released from the human colon cancer LIM1863 cell line. PMID:27917920
Applications and Limitations of Mouse Models for Understanding Human Atherosclerosis. PMID:27916529
Differential variation patterns between hubs and bottlenecks in human protein-protein interaction networks. PMID:27903259
Identification of laryngeal cancer prognostic biomarkers using an inflammatory gene-related, competitive endogenous RNA network. PMID:27902487
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). PMID:27899670
The BIG Data Center: from deposition to integration to translation. PMID:27899658
The UCSC Genome Browser database: 2017 update. PMID:27899642
Ensembl 2017. PMID:27899575
Transcriptomic Analysis Implicates the p53 Signaling Pathway in the Establishment of HIV-1 Latency in Central Memory CD4 T Cells in an In Vitro Model. PMID:27898737
Prioritization of non-coding disease-causing variants and long non-coding RNAs in liver cancer. PMID:27895760
Discovery and genotyping of structural variation from long-read haploid genome sequence data. PMID:27895111
Simulating Next-Generation Sequencing Datasets from Empirical Mutation and Sequencing Models. PMID:27893777
SPECtre: a spectral coherence--based classifier of actively translated transcripts from ribosome profiling sequence data. PMID:27884106
Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences. PMID:27881428
Changes of bivalent chromatin coincide with increased expression of developmental genes in cancer. PMID:27876760
Integrative classification of human coding and noncoding genes through RNA metabolism profiles. PMID:27870833
TACO produces robust multisample transcriptome assemblies from RNA-seq. PMID:27869815
The BLUEPRINT Data Analysis Portal. PMID:27863955
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. PMID:27863251
An imprinted long noncoding RNA located between genes Meg8 and Meg9 in the cattle Dlk1-Dio3 domain. PMID:27858207
Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers. PMID:27856756
Size distribution of function-based human gene sets and the split-merge model. PMID:27853602
Multiparameter functional diversity of human C2H2 zinc finger proteins. PMID:27852650
AnnoLnc: a web server for systematically annotating novel human lncRNAs. PMID:27852242
Integrative transcriptome network analysis of iPSC-derived neurons from schizophrenia and schizoaffective disorder patients with 22q11.2 deletion. PMID:27846841
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. PMID:27841878
Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues. PMID:27835642
Identification of activated enhancers and linked transcription factors in breast, prostate, and kidney tumors by tracing enhancer networks using epigenetic traits. PMID:27833659
The prognostic value of long non coding RNAs in non small cell lung cancer: A meta-analysis. PMID:27833074
A Comprehensive Characterization of the Function of LincRNAs in Transcriptional Regulation Through Long-Range Chromatin Interactions. PMID:27824113
Transcriptome analysis of distinct long non-coding RNA transcriptional fingerprints in lung adenocarcinoma and squamous cell carcinoma. PMID:27797003
Natural Selection in the Great Apes. PMID:27795229
Long non-coding RNA FOXP4-AS1 is an unfavourable prognostic factor and regulates proliferation and apoptosis in colorectal cancer. PMID:27790757
KERIS: kaleidoscope of gene responses to inflammation between species. PMID:27789704
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. PMID:27788187
Flexible Data Analysis Pipeline for High-Confidence Proteogenomics. PMID:27786492
Transcriptome-wide effects of inverted SINEs on gene expression and their impact on RNA polymerase II activity. PMID:27782844
Divergent lncRNAs take the lead on pluripotent cell differentiation. PMID:27777936
The state of play in higher eukaryote gene annotation. PMID:27773922
Integrated Post-GWAS Analysis Sheds New Light on the Disease Mechanisms of Schizophrenia. PMID:27754856
The human-induced pluripotent stem cell initiative-data resources for cellular genetics. PMID:27733501
Novel microRNA discovery using small RNA sequencing in post-mortem human brain. PMID:27716130
Specific genomic cues regulate Cajal body assembly. PMID:27715441
Alternative Splicing May Not Be the Key to Proteome Complexity. PMID:27712956
lncScore: alignment-free identification of long noncoding RNA from assembled novel transcripts. PMID:27708423
De novo assembly and phasing of a Korean human genome. PMID:27706134
Genome-wide compendium and functional assessment of in vivo heart enhancers. PMID:27703156
Consensus Analysis of Whole Transcriptome Profiles from Two Breast Cancer Patient Cohorts Reveals Long Non-Coding RNAs Associated with Intrinsic Subtype and the Tumour Microenvironment. PMID:27685983
Long noncoding RNA (lincRNA), a new paradigm in gene expression control. PMID:27681237
Genome-wide associations for birth weight and correlations with adult disease. PMID:27680694
Laquinimod arrests experimental autoimmune encephalomyelitis by activating the aryl hydrocarbon receptor. PMID:27671624
Analysis of SOX2-Regulated Transcriptome in Glioma Stem Cells. PMID:27669421
Integrative Transcriptome Analyses of Metabolic Responses in Mice Define Pivotal LncRNA Metabolic Regulators. PMID:27667668
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. PMID:27666373
Inheritable Silencing of Endogenous Genes by Hit-and-Run Targeted Epigenetic Editing. PMID:27662090
Compact and highly active next-generation libraries for CRISPR-mediated gene repression and activation. PMID:27661255
TUT-DIS3L2 is a mammalian surveillance pathway for aberrant structured non-coding RNAs. PMID:27647875
CardioTF, a database of deconstructing transcriptional circuits in the heart system. PMID:27635320
Genome-wide identification and characterisation of HOT regions in the human genome. PMID:27633377
The Tetraodon nigroviridis reference transcriptome: developmental transition, length retention and microsynteny of long non-coding RNAs in a compact vertebrate genome. PMID:27628538
Maps of context-dependent putative regulatory regions and genomic signal interactions. PMID:27625394
BmncRNAdb: a comprehensive database of non-coding RNAs in the silkworm, Bombyx mori. PMID:27623959
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing. PMID:27617755
Contribution of type W human endogenous retroviruses to the human genome: characterization of HERV-W proviral insertions and processed pseudogenes. PMID:27613107
COME: a robust coding potential calculation tool for lncRNA identification and characterization based on multiple features. PMID:27608726
rG4-seq reveals widespread formation of G-quadruplex structures in the human transcriptome. PMID:27571552
Transgenic Adipose-specific Expression of the Nuclear Receptor RORα Drives a Striking Shift in Fat Distribution and Impairs Glycemic Control. PMID:27568222
Single-nucleus RNA-seq of differentiating human myoblasts reveals the extent of fate heterogeneity. PMID:27566152
Investigation of novel LPS-induced differentially expressed long non-coding RNAs in endothelial cells. PMID:27565812
Ultra-deep sequencing of ribosome-associated poly-adenylated RNA in early Drosophila embryos reveals hundreds of conserved translated sORFs. PMID:27559081
An integrative transcriptomic atlas of organogenesis in human embryos. PMID:27557446
A molecular conundrum involving hypothalamic responses to and roles of long non-coding RNAs following food deprivation. PMID:27555291
Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults. PMID:27546487
lncRNA expression in the auditory forebrain during postnatal development. PMID:27544636
Identification and functional analysis of long non-coding RNAs in human and mouse early embryos based on single-cell transcriptome data. PMID:27542205
Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases. PMID:27540175
Mouse models of Down syndrome: gene content and consequences. PMID:27538963
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq). PMID:27531712
reChIP-seq reveals widespread bivalency of H3K4me3 and H3K27me3 in CD4(+) memory T cells. PMID:27530917
Modulation of long noncoding RNAs by risk SNPs underlying genetic predispositions to prostate cancer. PMID:27526323
NOTCH1 mediates a switch between two distinct secretomes during senescence. PMID:27525720
IRWRLDA: improved random walk with restart for lncRNA-disease association prediction. PMID:27517318
Prevalent Accumulation of Non-Optimal Codons through Somatic Mutations in Human Cancers. PMID:27513638
IPMiner: hidden ncRNA-protein interaction sequential pattern mining with stacked autoencoder for accurate computational prediction. PMID:27506469
Simultaneous detection and estimation of trait associations with genomic phenotypes. PMID:27496912
Comparative Transcriptome Analysis Reveals Substantial Tissue Specificity in Human Aortic Valve. PMID:27493474
Statistical Methods in Integrative Genomics. PMID:27482531
Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions. PMID:27482468
A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder. PMID:27480506
Investigating long noncoding RNAs using animal models. PMID:27479747
A Long Noncoding RNA Regulates Sister Chromatid Cohesion. PMID:27477908
FocalScan: Scanning for altered genes in cancer based on coordinated DNA and RNA change. PMID:27474725
Secondary structure impacts patterns of selection in human lncRNAs. PMID:27457204
Principles for RNA metabolism and alternative transcription initiation within closely spaced promoters. PMID:27455346
Immune DNA signature of T-cell infiltration in breast tumor exomes. PMID:27452728
TALE-directed local modulation of H3K9 methylation shapes exon recognition. PMID:27439481
Expression of evolutionarily novel genes in tumors. PMID:27437030
PETModule: a motif module based approach for enhancer target gene prediction. PMID:27436110
Identification and Classification of New Transcripts in Dorper and Small-Tailed Han Sheep Skeletal Muscle Transcriptomes. PMID:27434270
Long noncoding RNAs and Alzheimer's disease. PMID:27418812
Integrative analysis with ChIP-seq advances the limits of transcript quantification from RNA-seq. PMID:27405803
The genetic architecture of type 2 diabetes. PMID:27398621
Limits of Peripheral Blood Mononuclear Cells for Gene Expression-Based Biomarkers in Juvenile Idiopathic Arthritis. PMID:27385437
A comprehensive analysis of 3' end sequencing data sets reveals novel polyadenylation signals and the repressive role of heterogeneous ribonucleoprotein C on cleavage and polyadenylation. PMID:27382025
Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses. PMID:27378374
p53 induces formation of NEAT1 lncRNA-containing paraspeckles that modulate replication stress response and chemosensitivity. PMID:27376578
Identifying Centromeric RNAs Involved in Histone Dynamics In Vivo. PMID:27372766
Circulating biomarkers to monitor cancer progression and treatment. PMID:27358717
The genetic regulatory signature of type 2 diabetes in human skeletal muscle. PMID:27353450
Optimizing sgRNA position markedly improves the efficiency of CRISPR/dCas9-mediated transcriptional repression. PMID:27353328
JAK-STAT signaling in cancer: From cytokines to non-coding genome. PMID:27349799
Overexpression of long non-coding RNA HOTTIP increases chemoresistance of osteosarcoma cell by activating the Wnt/β-catenin pathway. PMID:27347346
Functional annotation of noncoding variants and prioritization of cancer-associated lncRNAs in lung cancer. PMID:27347129
Long non-coding RNAs and complex diseases: from experimental results to computational models. PMID:27345524
Androgen-induced Long Noncoding RNA (lncRNA) SOCS2-AS1 Promotes Cell Growth and Inhibits Apoptosis in Prostate Cancer Cells. PMID:27342777
The Ensembl gene annotation system. PMID:27337980
Identification of Tissue-Specific Protein-Coding and Noncoding Transcripts across 14 Human Tissues Using RNA-seq. PMID:27329541
PEDLA: predicting enhancers with a deep learning-based algorithmic framework. PMID:27329130
IntNetLncSim: an integrative network analysis method to infer human lncRNA functional similarity. PMID:27323856
FMLNCSIM: fuzzy measure-based lncRNA functional similarity calculation model. PMID:27322210
Long noncoding RNA variations in cardiometabolic diseases. PMID:27305986
Boiler: lossy compression of RNA-seq alignments using coverage vectors. PMID:27298258
Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research. PMID:27297499
Long noncoding RNAs: Central to nervous system development. PMID:27296516
Emergence and Evolution of Hominidae-Specific Coding and Noncoding Genomic Sequences. PMID:27289096
Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. PMID:27287230
Long noncoding RNA EGOT negatively affects the antiviral response and favors HCV replication. PMID:27283940
Global transcriptome analysis for identification of interactions between coding and noncoding RNAs during human erythroid differentiation. PMID:27272188
The Ensembl Variant Effect Predictor. PMID:27268795
Improving GENCODE reference gene annotation using a high-stringency proteogenomics workflow. PMID:27250503
Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model. PMID:27246810
A penalized likelihood approach for robust estimation of isoform expression. PMID:27239250
An atlas of gene expression and gene co-regulation in the human retina. PMID:27235414
Long noncoding RNAs in cancer: mechanisms of action and technological advancements. PMID:27233618
Thousands of novel translated open reading frames in humans inferred by ribosome footprint profiling. PMID:27232982
Group II mGluRs suppress hyperexcitability in mouse and human nociceptors. PMID:27218869
Prediction and Quantification of Splice Events from RNA-Seq Data. PMID:27218464
Improved definition of the mouse transcriptome via targeted RNA sequencing. PMID:27197243
Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks. PMID:27197224
Upregulated long non-coding RNA AGAP2-AS1 represses LATS2 and KLF2 expression through interacting with EZH2 and LSD1 in non-small-cell lung cancer cells. PMID:27195672
Circulating long non-coding RNAs in cancer: current status and future perspectives. PMID:27189224
Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures. PMID:27162171
Dissecting the expression relationships between RNA-binding proteins and their cognate targets in eukaryotic post-transcriptional regulatory networks. PMID:27161996
RNAex: an RNA secondary structure prediction server enhanced by high-throughput structure-probing data. PMID:27137891
IL-1 is a critical regulator of group 2 innate lymphoid cell function and plasticity. PMID:27111142
A benchmark for RNA-seq quantification pipelines. PMID:27107712
Jointly characterizing epigenetic dynamics across multiple human cell types. PMID:27095202
Candidate SNP Markers of Gender-Biased Autoimmune Complications of Monogenic Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters. PMID:27092142
A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals. PMID:27089393
Global molecular changes in a tibial compression induced ACL rupture model of post-traumatic osteoarthritis. PMID:27088242
Allele-Skewed DNA Modification in the Brain: Relevance to a Schizophrenia GWAS. PMID:27087318
Nucleotide excision repair is impaired by binding of transcription factors to DNA. PMID:27075101
Comprehensive analysis of lncRNA expression profiles reveals a novel lncRNA signature to discriminate nonequivalent outcomes in patients with ovarian cancer. PMID:27074572
Long Noncoding RNAs in Cancer Pathways. PMID:27070700
Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer. PMID:27064257
Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin. PMID:27064255
Diagnostic and Biological Significance of KIR Expression Profile Determined by RNA-Seq in Natural Killer/T-Cell Lymphoma. PMID:27060228
Proteogenomics: Integrating Next-Generation Sequencing and Mass Spectrometry to Characterize Human Proteomic Variation. PMID:27049631
Long non-coding RNA Databases in Cardiovascular Research. PMID:27049585
Transcriptomics resources of human tissues and organs. PMID:27044256
Long-read sequence assembly of the gorilla genome. PMID:27034376
Cancer therapies activate RIG-I-like receptor pathway through endogenous non-coding RNAs. PMID:27034163
Topology based identification and comprehensive classification of four-transmembrane helix containing proteins (4TMs) in the human genome. PMID:27030248
Transcript Isoform Variation Associated with Cytosine Modification in Human Lymphoblastoid Cell Lines. PMID:27029734
ILNCSIM: improved lncRNA functional similarity calculation model. PMID:27028993
Long Intergenic Noncoding RNAs Mediate the Human Chondrocyte Inflammatory Response and Are Differentially Expressed in Osteoarthritis Cartilage. PMID:27023358
Genome-wide interaction study of brain beta-amyloid burden and cognitive impairment in Alzheimer's disease. PMID:27021820
Transcriptomic and epigenomic characterization of the developing bat wing. PMID:27019111
Hypoxia-regulated gene expression explains differences between melanoma cell line-derived xenografts and patient-derived xenografts. PMID:27009863
Mechanisms of long noncoding RNA function in development and disease. PMID:27007508
CTCF-mediated chromatin loops enclose inducible gene regulatory domains. PMID:27004515
dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions. PMID:26989155
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved? PMID:26988438
CLASS2: accurate and efficient splice variant annotation from RNA-seq reads. PMID:26975657
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. PMID:26974950
RNA-binding protein IGF2BP3 targeting of oncogenic transcripts promotes hematopoietic progenitor proliferation. PMID:26974154
Constructing 3D interaction maps from 1D epigenomes. PMID:26960733
Gene expression variability in mammalian embryonic stem cells using single cell RNA-seq data. PMID:26951854
Identification and characterization of lncRNA mediated transcriptional dysregulation dictates lncRNA roles in glioblastoma. PMID:26943771
Identification of STOML2 as a putative novel asthma risk gene associated with IL6R. PMID:26932604
A Helitron transposon reconstructed from bats reveals a novel mechanism of genome shuffling in eukaryotes. PMID:26931494
Pseudo-Reference-Based Assembly of Vertebrate Transcriptomes. PMID:26927182
Changes in snoRNA and snRNA Abundance in the Human, Chimpanzee, Macaque, and Mouse Brain. PMID:26926764
An Atlas of the Human Kinome Reveals the Mutational Landscape Underlying Dysregulated Phosphorylation Cascades in Cancer. PMID:26921330
Systematic characterization of lncRNAs' cell-to-cell expression heterogeneity in glioblastoma cells. PMID:26918340
Transcriptome Analysis in Domesticated Species: Challenges and Strategies. PMID:26917953
The Role of Long Noncoding RNAs in Neurodegenerative Diseases. PMID:26910817
Genetic mutations associated with metastatic clear cell renal cell carcinoma. PMID:26908440
A Long Non-coding RNA, lncLGR, Regulates Hepatic Glucokinase Expression and Glycogen Storage during Fasting. PMID:26904944
Refined mapping of autoimmune disease associated genetic variants with gene expression suggests an important role for non-coding RNAs. PMID:26898941
Probabilistic Modeling of Imaging, Genetics and Diagnosis. PMID:26886973
Widespread RNA binding by chromatin-associated proteins. PMID:26883116
IGHV1-69 polymorphism modulates anti-influenza antibody repertoires, correlates with IGHV utilization shifts and varies by ethnicity. PMID:26880249
Tumour-specific proline vulnerability uncovered by differential ribosome codon reading. PMID:26878238
Single-cell Transcriptome Study as Big Data. PMID:26876720
SplAdder: identification, quantification and testing of alternative splicing events from RNA-Seq data. PMID:26873928
CCSI: a database providing chromatin-chromatin spatial interaction information. PMID:26868054
Distinct genomic and epigenomic features demarcate hypomethylated blocks in colon cancer. PMID:26868017
Filtering genetic variants and placing informative priors based on putative biological function. PMID:26866982
Mutation pattern is an influential factor on functional mutation rates in cancer. PMID:26865835
Curated eutherian third party data gene data sets. PMID:26862561
Genome-wide identification and characterization of long intergenic noncoding RNAs and their potential association with larval development in the Pacific oyster. PMID:26861843
Biochemical Methods To Investigate lncRNA and the Influence of lncRNA:Protein Complexes on Chromatin. PMID:26859437
ePIANNO: ePIgenomics ANNOtation tool. PMID:26859295
Redifferentiation of expanded human islet β cells by inhibition of ARX. PMID:26856418
Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. PMID:26856248
Long non-coding RNA LINC01133 represses KLF2, P21 and E-cadherin transcription through binding with EZH2, LSD1 in non small cell lung cancer. PMID:26840083
Evolutionary analysis across mammals reveals distinct classes of long non-coding RNAs. PMID:26838501
Long non-coding RNAs display higher natural expression variation than protein-coding genes in healthy humans. PMID:26821746
Comprehensive prediction of lncRNA-RNA interactions in human transcriptome. PMID:26818453
Identifying micro-inversions using high-throughput sequencing reads. PMID:26818118
Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer. PMID:26813288
Noncoding RNAs and pancreatic cancer. PMID:26811626
Histone H3 lysine 4 acetylation and methylation dynamics define breast cancer subtypes. PMID:26783963
RNAseq analysis for the diagnosis of muscular dystrophy. PMID:26783550
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data. PMID:26764020
Identifying and functionally characterizing tissue-specific and ubiquitously expressed human lncRNAs. PMID:26760768
QuickRNASeq lifts large-scale RNA-seq data analyses to the next level of automation and interactive visualization. PMID:26747388
A proteogenomic approach to understand splice isoform functions through sequence and expression-based computational modeling. PMID:26740460
ELF5 isoform expression is tissue-specific and significantly altered in cancer. PMID:26738740
Global proteogenomic analysis of human MHC class I-associated peptides derived from non-canonical reading frames. PMID:26728094
In Silico Functional Annotation of Genomic Variation. PMID:26724722
Derivation of consensus inactivation status for X-linked genes from genome-wide studies. PMID:26719789
Identification of important long non-coding RNAs and highly recurrent aberrant alternative splicing events in hepatocellular carcinoma through integrative analysis of multiple RNA-Seq datasets. PMID:26711644
Differentiation of mammary tumors and reduction in metastasis upon Malat1 lncRNA loss. PMID:26701265
Non-coding yet non-trivial: a review on the computational genomics of lincRNAs. PMID:26697116
Forward Individualized Medicine from Personal Genomes to Interactomes. PMID:26696898
Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters. PMID:26694100
Long noncoding RNAs in cancer: from function to translation. PMID:26693181
Decreased long noncoding RNA MIR31HG is correlated with poor prognosis and contributes to cell proliferation in gastric cancer. PMID:26692098
Stress and glucocorticoid receptor transcriptional programming in time and space: Implications for the brain-gut axis. PMID:26690871
Ensembl 2016. PMID:26687719
Many lncRNAs, 5'UTRs, and pseudogenes are translated and some are likely to express functional proteins. PMID:26687005
Comprehensive Identification of Long Non-coding RNAs in Purified Cell Types from the Brain Reveals Functional LncRNA in OPC Fate Determination. PMID:26683846
A human haploid gene trap collection to study lncRNAs with unusual RNA biology. PMID:26670263
Unique features of long non-coding RNA biogenesis and function. PMID:26666209
Rare copy number variants implicated in posterior urethral valves. PMID:26663319
Detecting actively translated open reading frames in ribosome profiling data. PMID:26657557
proBAMsuite, a Bioinformatics Framework for Genome-Based Representation and Analysis of Proteomics Data. PMID:26657539
The domain structure and distribution of Alu elements in long noncoding RNAs and mRNAs. PMID:26654912
Comparative genomic analysis of eutherian tumor necrosis factor ligand genes. PMID:26646413
Integrating Diverse Types of Genomic Data to Identify Genes that Underlie Adverse Pregnancy Phenotypes. PMID:26641094
RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression. PMID:26636579
The Role of H3K4me3 in Transcriptional Regulation Is Altered in Huntington's Disease. PMID:26636336
LncRNA-HIT Functions as an Epigenetic Regulator of Chondrogenesis through Its Recruitment of p100/CBP Complexes. PMID:26633036
ADMIRE: analysis and visualization of differential methylation in genomic regions using the Infinium HumanMethylation450 Assay. PMID:26628921
Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors. PMID:26624892
Variable reproducibility in genome-scale public data: A case study using ENCODE ChIP sequencing resource. PMID:26619763
Towards improved genome-scale metabolic network reconstructions: unification, transcript specificity and beyond. PMID:26615025
DIANA-LncBase v2: indexing microRNA targets on non-coding transcripts. PMID:26612864
Cancer RNA-Seq Nexus: a database of phenotype-specific transcriptome profiling in cancer cells. PMID:26602695
RNA sequencing of transcriptomes in human brain regions: protein-coding and non-coding RNAs, isoforms and alleles. PMID:26597164
The UCSC Genome Browser database: 2016 update. PMID:26590259
deepBase v2.0: identification, expression, evolution and function of small RNAs, LncRNAs and circular RNAs from deep-sequencing data. PMID:26590255
Inferring Selective Constraint from Population Genomic Data Suggests Recent Regulatory Turnover in the Human Brain. PMID:26590212
Identification of global regulators of T-helper cell lineage specification. PMID:26589177
A Dual Model for Prioritizing Cancer Mutations in the Non-coding Genome Based on Germline and Somatic Events. PMID:26588488
CpG island erosion, polycomb occupancy and sequence motif enrichment at bivalent promoters in mammalian embryonic stem cells. PMID:26582124
Death of a dogma: eukaryotic mRNAs can code for more than one protein. PMID:26578573
KATZLDA: KATZ measure for the lncRNA-disease association prediction. PMID:26577439
Distinguishing the immunostimulatory properties of noncoding RNAs expressed in cancer cells. PMID:26575629
Meta-Analysis of DNA Tumor-Viral Integration Site Selection Indicates a Role for Repeats, Gene Expression and Epigenetics. PMID:26569308
The pig X and Y Chromosomes: structure, sequence, and evolution. PMID:26560630
Union Exon Based Approach for RNA-Seq Gene Quantification: To Be or Not to Be? PMID:26559532
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs. PMID:26555599
DASHR: database of small human noncoding RNAs. PMID:26553799
Full-length single-cell RNA-seq applied to a viral human cancer: applications to HPV expression and splicing analysis in HeLa S3 cells. PMID:26550473
A potential prognostic long non-coding RNA signature to predict metastasis-free survival of breast cancer patients. PMID:26549855
Long noncoding RNAs in T lymphocytes. PMID:26538526
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort. PMID:26534921
Differential expression analysis of human endogenous retroviruses based on ENCODE RNA-seq data. PMID:26530187
The Clinical Relevance of Long Non-Coding RNAs in Cancer. PMID:26516918
How to Use SNP_TATA_Comparator to Find a Significant Change in Gene Expression Caused by the Regulatory SNP of This Gene's Promoter via a Change in Affinity of the TATA-Binding Protein for This Promoter. PMID:26516624
Multiple SNP Set Analysis for Genome-Wide Association Studies Through Bayesian Latent Variable Selection. PMID:26515609
CAGE profiling of ncRNAs in hepatocellular carcinoma reveals widespread activation of retroviral LTR promoters in virus-induced tumors. PMID:26510915
Genetics of RA susceptibility, what comes next? PMID:26509058
Protective alleles and modifier variants in human health and disease. PMID:26503796
Discovery and characterization of Alu repeat sequences via precise local read assembly. PMID:26503250
Promoter-like epigenetic signatures in exons displaying cell type-specific splicing. PMID:26498677
Evidence of Extensive Alternative Splicing in Post Mortem Human Brain HTT Transcription by mRNA Sequencing. PMID:26496077
The potential clinical impact of the release of two drafts of the human proteome. PMID:26496066
DECKO: Single-oligo, dual-CRISPR deletion of genomic elements including long non-coding RNAs. PMID:26493208
Cancer Specific Long Noncoding RNAs Show Differential Expression Patterns and Competing Endogenous RNA Potential in Hepatocellular Carcinoma. PMID:26492393
CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment. PMID:26491539
Third party annotation gene data set of eutherian lysozyme genes. PMID:26484105
Dynamic expression of long noncoding RNAs and repeat elements in synaptic plasticity. PMID:26483626
Identification of linc-NeD125, a novel long non coding RNA that hosts miR-125b-1 and negatively controls proliferation of human neuroblastoma cells. PMID:26480000
Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. PMID:26472073
Genome-wide DNA methylome reveals the dysfunction of intronic microRNAs in major psychosis. PMID:26462620
lncRScan-SVM: A Tool for Predicting Long Non-Coding RNAs Using Support Vector Machine. PMID:26437338
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. PMID:26437029
Alternative Splicing QTLs in European and African Populations. PMID:26430802
Linking RNA biology to lncRNAs. PMID:26430155
Single-Molecule Sequencing Reveals Estrogen-Regulated Clinically Relevant lncRNAs in Breast Cancer. PMID:26426411
Transcriptome sequencing and analysis of major genes involved in calcium signaling pathways in pear plants (Pyrus calleryana Decne.). PMID:26424153
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort. PMID:26411346
Extracellular vesicle-mediated transfer of processed and functional RNY5 RNA. PMID:26392588
BIDCHIPS: bias decomposition and removal from ChIP-seq data clarifies true binding signal and its functional correlates. PMID:26388941
Using mixtures of biological samples as process controls for RNA-sequencing experiments. PMID:26383878
A survey of tandem repeat instabilities and associated gene expression changes in 35 colorectal cancers. PMID:26376692
Devising a Consensus Framework for Validation of Novel Human Coding Loci. PMID:26367542
Regulatory RNAs and control of epigenetic mechanisms: expectations for cognition and cognitive dysfunction. PMID:26366811
Co-LncRNA: investigating the lncRNA combinatorial effects in GO annotations and KEGG pathways based on human RNA-Seq data. PMID:26363020
Identification and validation of potential prognostic lncRNA biomarkers for predicting survival in patients with multiple myeloma. PMID:26362431
Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum. PMID:26343451
Tracking Distinct RNA Populations Using Efficient and Reversible Covalent Chemistry. PMID:26340425
Comparison of stranded and non-stranded RNA-seq transcriptome profiling and investigation of gene overlap. PMID:26334759
Allele-Selective Transcriptome Recruitment to Polysomes Primed for Translation: Protein-Coding and Noncoding RNAs, and RNA Isoforms. PMID:26331722
Integration of extracellular RNA profiling data using metadata, biomedical ontologies and Linked Data technologies. PMID:26320941
Architectural and Functional Commonalities between Enhancers and Promoters. PMID:26317464
LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations. PMID:26304545
Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions. PMID:26300125
Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes. PMID:26300000
Integrative analysis of RNA, translation, and protein levels reveals distinct regulatory variation across humans. PMID:26297486
Bioinformatics Methods and Tools to Advance Clinical Care. Findings from the Yearbook 2015 Section on Bioinformatics and Translational Informatics. PMID:26293864
Prediction of Causal Candidate Genes in Coronary Artery Disease Loci. PMID:26293461
Evolution of the unspliced transcriptome. PMID:26289325
Read clouds uncover variation in complex regions of the human genome. PMID:26286554
piRNAs derived from ancient viral processed pseudogenes as transgenerational sequence-specific immune memory in mammals. PMID:26283688
Systematic chromatin state comparison of epigenomes associated with diverse properties including sex and tissue type. PMID:26282110
Predicting lncRNA-disease associations and constructing lncRNA functional similarity network based on the information of miRNA. PMID:26278472
Generalised Anxiety Disorder--A Twin Study of Genetic Architecture, Genome-Wide Association and Differential Gene Expression. PMID:26274327
An Association Rule Mining Approach to Discover lncRNAs Expression Patterns in Cancer Datasets. PMID:26273587
Predicting effective microRNA target sites in mammalian mRNAs. PMID:26267216
Next-generation analysis of gene expression regulation--comparing the roles of synthesis and degradation. PMID:26259698
A gene-based association method for mapping traits using reference transcriptome data. PMID:26258848
Genome-wide association between YAP/TAZ/TEAD and AP-1 at enhancers drives oncogenic growth. PMID:26258633
Nuclear Fractionation Reveals Thousands of Chromatin-Tethered Noncoding RNAs Adjacent to Active Genes. PMID:26257179
The use of exome capture RNA-seq for highly degraded RNA with application to clinical cancer sequencing. PMID:26253700
Comprehensive assembly of novel transcripts from unmapped human RNA-Seq data and their association with cancer. PMID:26253570
Paradigm shifts in genomics through the FANTOM projects. PMID:26253466
A reanalysis of mouse ENCODE comparative gene expression data. PMID:26236466
Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes. PMID:26217794
BayesPI-BAR: a new biophysical model for characterization of regulatory sequence variations. PMID:26202972
Comparative assessment of methods for the computational inference of transcript isoform abundance from RNA-seq data. PMID:26201343
Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men. PMID:26199320
Creating reference gene annotation for the mouse C57BL6/J genome assembly. PMID:26187010
Data quality aware analysis of differential expression in RNA-seq with NOISeq R/Bioc package. PMID:26184878
A potential signature of eight long non-coding RNAs predicts survival in patients with non-small cell lung cancer. PMID:26183581
Small RNA deep sequencing discriminates subsets of extracellular vesicles released by melanoma cells--Evidence of unique microRNA cargos. PMID:26176991
Drosophila and Caenorhabditis elegans as Discovery Platforms for Genes Involved in Human Alcohol Use Disorder. PMID:26173477
MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del. PMID:26173148
RNA editing differently affects protein-coding genes in D. melanogaster and H. sapiens. PMID:26169954
A semi-supervised approach uncovers thousands of intragenic enhancers differentially activated in human cells. PMID:26169177
Long non-coding RNAs in innate and adaptive immunity. PMID:26166759
Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and Proteomics. PMID:26156868
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. PMID:26151409
Comparison of Gene Coexpression Profiles and Construction of Conserved Gene Networks to Find Functional Modules. PMID:26147120
Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation. PMID:26132169
Human bone marrow- and adipose-mesenchymal stem cells secrete exosomes enriched in distinctive miRNA and tRNA species. PMID:26129847
Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction. PMID:26110515
Gene Model Annotations for Drosophila melanogaster: Impact of High-Throughput Data. PMID:26109357
Comparison of RNA-seq and microarray-based models for clinical endpoint prediction. PMID:26109056
SIRT1 affects DNA methylation of polycomb group protein target genes, a hotspot of the epigenetic shift observed in ageing. PMID:26104761
Dysregulated transcription across diverse cancer types reveals the importance of RNA-binding protein in carcinogenesis. PMID:26100984
Possible Human Papillomavirus 38 Contamination of Endometrial Cancer RNA Sequencing Samples in The Cancer Genome Atlas Database. PMID:26085148
Single-cell mRNA sequencing identifies subclonal heterogeneity in anti-cancer drug responses of lung adenocarcinoma cells. PMID:26084335
Natural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution. PMID:26068475
Constructing lncRNA functional similarity network based on lncRNA-disease associations and disease semantic similarity. PMID:26061969
Alternatively Spliced Homologous Exons Have Ancient Origins and Are Highly Expressed at the Protein Level. PMID:26061177
A general concept for consistent documentation of computational analyses. PMID:26055099
Recurrent somatic mutations in regulatory regions of human cancer genomes. PMID:26053494
Non-coding RNAs: Epigenetic regulators of bone development and homeostasis. PMID:26039869
RNA biomarkers to facilitate the identification of aggressive prostate cancer. PMID:26022941
JAFFA: High sensitivity transcriptome-focused fusion gene detection. PMID:26019724
Systematic transcriptome analysis reveals tumor-specific isoforms for ovarian cancer diagnosis and therapy. PMID:26015570
Spatial genomic heterogeneity within localized, multifocal prostate cancer. PMID:26005866
StarScan: a web server for scanning small RNA targets from degradome sequencing data. PMID:25990732
APPRIS WebServer and WebServices. PMID:25990727
Comprehensive transcriptome analysis using synthetic long-read sequencing reveals molecular co-association of distant splicing events. PMID:25985263
Seq2pathway: an R/Bioconductor package for pathway analysis of next-generation sequencing data. PMID:25979472
Longitudinal epigenetic and gene expression profiles analyzed by three-component analysis reveal down-regulation of genes involved in protein translation in human aging. PMID:25977295
Recursive splicing in long vertebrate genes. PMID:25970246
Human genomics. The human transcriptome across tissues and individuals. PMID:25954002
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. PMID:25954001
Initial description of primate-specific cystine-knot Prometheus genes and differential gene expansions of D-dopachrome tautomerase genes. PMID:25941635
Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci. PMID:25939698
Low-frequency coding variants at 6p21.33 and 20q11.21 are associated with lung cancer risk in Chinese populations. PMID:25937444
A cluster of noncoding RNAs activates the ESR1 locus during breast cancer adaptation. PMID:25923108
Genetic code evolution reveals the neutral emergence of mutational robustness, and information as an evolutionary constraint. PMID:25919033
Inosine modifications in human tRNAs are incorporated at the precursor tRNA level. PMID:25916855
Cross-population joint analysis of eQTLs: fine mapping and functional annotation. PMID:25906321
ZNF804A Transcriptional Networks in Differentiating Neurons Derived from Induced Pluripotent Stem Cells of Human Origin. PMID:25905630
Expression and functions of long noncoding RNAs during human T helper cell differentiation. PMID:25903499
Long non-coding RNA discovery across the genus anopheles reveals conserved secondary structures within and beyond the Gambiae complex. PMID:25903279
Characterization and identification of hidden rare variants in the human genome. PMID:25903059
Applying the new genomics to alcohol dependence. PMID:25896098
Proteogenomics analysis reveals specific genomic orientations of distal regulatory regions composed by non-canonical histone variants. PMID:25878728
The Landscape of long noncoding RNA classification. PMID:25869999
Targeting the schizophrenia genome: a fast track strategy from GWAS to clinic. PMID:25869805
RNA imaging. Spatially resolved, highly multiplexed RNA profiling in single cells. PMID:25858977
miRGate: a curated database of human, mouse and rat miRNA-mRNA targets. PMID:25858286
Coordinated international action to accelerate genome-to-phenome with FAANG, the Functional Annotation of Animal Genomes project. PMID:25854118
Transcript and protein expression decoupling reveals RNA binding proteins and miRNAs as potential modulators of human aging. PMID:25853883
Transposon mutagenesis identifies genetic drivers of Braf(V600E) melanoma. PMID:25848750
The lncRNA DEANR1 facilitates human endoderm differentiation by activating FOXA2 expression. PMID:25843708
Disease-Associated Single-Nucleotide Polymorphisms From Noncoding Regions in Juvenile Idiopathic Arthritis Are Located Within or Adjacent to Functional Genomic Elements of Human Neutrophils and CD4+ T Cells. PMID:25833190
A thesaurus of genetic variation for interrogation of repetitive genomic regions. PMID:25820428
Re-annotation of presumed noncoding disease/trait-associated genetic variants by integrative analyses. PMID:25819875
SCAN database: facilitating integrative analyses of cytosine modification and expression QTL. PMID:25818895
Predicting the functions of long noncoding RNAs using RNA-seq based on Bayesian network. PMID:25815337
Immunoglobulin transcript sequence and somatic hypermutation computation from unselected RNA-seq reads in chronic lymphocytic leukemia. PMID:25787252
Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers. PMID:25768983
A comprehensive evaluation of ensembl, RefSeq, and UCSC annotations in the context of RNA-seq read mapping and gene quantification. PMID:25765860
GASS: genome structural annotation for Eukaryotes based on species similarity. PMID:25764973
Using the ENCODE Resource for Functional Annotation of Genetic Variants. PMID:25762420
Designing optogenetically controlled RNA for regulating biological systems. PMID:25758022
Systematic identification and characterization of long intergenic non-coding RNAs in fetal porcine skeletal muscle development. PMID:25753296
Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing. PMID:25751143
Interferon-alpha competing endogenous RNA network antagonizes microRNA-1270. PMID:25746225
Prognostic impact of HOTAIR expression is restricted to ER-negative breast cancers. PMID:25739705
Most highly expressed protein-coding genes have a single dominant isoform. PMID:25732134
A survey of imprinted gene expression in mouse trophoblast stem cells. PMID:25711832
LncRNA2Function: a comprehensive resource for functional investigation of human lncRNAs based on RNA-seq data. PMID:25707511
Genome-Wide Identification and Classification of MicroRNAs Derived from Repetitive Elements. PMID:25705168
Oncotator: cancer variant annotation tool. PMID:25703262
Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. PMID:25695269
Epigenomic footprints across 111 reference epigenomes reveal tissue-specific epigenetic regulation of lincRNAs. PMID:25691256
Novel long non-coding RNAs are specific diagnostic and prognostic markers for prostate cancer. PMID:25686826
An integrative analysis of TFBS-clustered regions reveals new transcriptional regulation models on the accessible chromatin landscape. PMID:25682954
Joint annotation of chromatin state and chromatin conformation reveals relationships among domain types and identifies domains of cell-type-specific expression. PMID:25677182
Integrating transcriptomics and proteomics to show that tanshinone IIA suppresses cell growth by blocking glucose metabolism in gastric cancer cells. PMID:25652794
Discovery of Protein-lncRNA Interactions by Integrating Large-Scale CLIP-Seq and RNA-Seq Datasets. PMID:25642422
An Island-Based Approach for Differential Expression Analysis. PMID:25632406
Correlation of circular RNA abundance with proliferation--exemplified with colorectal and ovarian cancer, idiopathic lung fibrosis, and normal human tissues. PMID:25624062
Long Non-Coding RNA BST2/BISPR is Induced by IFN and Regulates the Expression of the Antiviral Factor Tetherin. PMID:25620967
3USS: a web server for detecting alternative 3'UTRs from RNA-seq experiments. PMID:25617413
The landscape of long noncoding RNAs in the human transcriptome. PMID:25599403
A method for calculating probabilities of fitness consequences for point mutations across the human genome. PMID:25599402
Kleat: cleavage site analysis of transcriptomes. PMID:25592595
Identifying mutation specific cancer pathways using a structurally resolved protein interaction network. PMID:25592571
Enhanced transcriptome maps from multiple mouse tissues reveal evolutionary constraint in gene expression. PMID:25582907
A long non-coding RNA links calreticulin-mediated immunogenic cell removal to RB1 transcription. PMID:25579178
Transposable elements modulate human RNA abundance and splicing via specific RNA-protein interactions. PMID:25572935
Genome-wide discovery of human splicing branchpoints. PMID:25561518
Long non-coding RNAs as regulators of the endocrine system. PMID:25560704
Biased allelic expression in human primary fibroblast single cells. PMID:25557783
Uncapped 5' ends of mRNAs targeted by cytoplasmic capping map to the vicinity of downstream CAGE tags. PMID:25541487
Uncovering RNA Editing Sites in Long Non-Coding RNAs. PMID:25538940
Recombinant renewable polyclonal antibodies. PMID:25530082
Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease. PMID:25528190
Long non-coding RNA normalisers in human brain tissue. PMID:25528156
Annotation of genomics data using bidirectional hidden Markov models unveils variations in Pol II transcription cycle. PMID:25527639
Genome-wide analysis of the human p53 transcriptional network unveils a lncRNA tumour suppressor signature. PMID:25524025
Comprehensive discovery of DNA motifs in 349 human cells and tissues reveals new features of motifs. PMID:25505144
Computational approaches to interpreting genomic sequence variation. PMID:25473426
Proteome sequencing goes deep. PMID:25461719
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins. PMID:25436857
The RCSB Protein Data Bank: views of structural biology for basic and applied research and education. PMID:25428375
The UCSC Genome Browser database: 2015 update. PMID:25428374
Expression profiles of long non-coding RNAs located in autoimmune disease-associated regions reveal immune cell-type specificity. PMID:25419237
Population genetic simulations of complex phenotypes with implications for rare variant association tests. PMID:25417809
Type I Interferon Regulates the Expression of Long Non-Coding RNAs. PMID:25414701
Comparison of the transcriptional landscapes between human and mouse tissues. PMID:25413365
Mouse regulatory DNA landscapes reveal global principles of cis-regulatory evolution. PMID:25411453
RADIA: RNA and DNA integrated analysis for somatic mutation detection. PMID:25405470
Human nonsense-mediated RNA decay initiates widely by endonucleolysis and targets snoRNA host genes. PMID:25403180
LncRNAWiki: harnessing community knowledge in collaborative curation of human long non-coding RNAs. PMID:25399417
Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer. PMID:25394353
Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes. PMID:25387709
Systems biology approaches for studying the pathogenesis of non-alcoholic fatty liver disease. PMID:25386055
Systematic analysis of noncoding somatic mutations and gene expression alterations across 14 tumor types. PMID:25383969
Analysis of nascent RNA identifies a unified architecture of initiation regions at mammalian promoters and enhancers. PMID:25383968
A stationary wavelet entropy-based clustering approach accurately predicts gene expression. PMID:25383910
Transcriptome analysis of the human corneal endothelium. PMID:25377225
24-hour rhythms of DNA methylation and their relation with rhythms of RNA expression in the human dorsolateral prefrontal cortex. PMID:25375876
Megabase-scale deletion using CRISPR/Cas9 to generate a fully haploid human cell line. PMID:25373145
Small and Long Regulatory RNAs in the Immune System and Immune Diseases. PMID:25368617
Understanding gene regulatory mechanisms by integrating ChIP-seq and RNA-seq data: statistical solutions to biological problems. PMID:25364758
Genenames.org: the HGNC resources in 2015. PMID:25361968
Transdifferentiation of human fibroblasts to endothelial cells: role of innate immunity. PMID:25359165
Proteogenomics: concepts, applications and computational strategies. PMID:25357241
Ensembl 2015. PMID:25352552
RNAcentral: an international database of ncRNA sequences. PMID:25352543
SeAMotE: a method for high-throughput motif discovery in nucleic acid sequences. PMID:25341390
lncRNAdb v2.0: expanding the reference database for functional long noncoding RNAs. PMID:25332394
VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants. PMID:25306238
MUSIC: identification of enriched regions in ChIP-Seq experiments using a mappability-corrected multiscale signal processing framework. PMID:25292436
Promoter analysis reveals globally differential regulation of human long non-coding RNA and protein-coding genes. PMID:25275320
Distinct structural transitions of chromatin topological domains correlate with coordinated hormone-induced gene regulation. PMID:25274727
FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer. PMID:25273974
Long non-coding RNAs differentially expressed between normal versus primary breast tumor tissues disclose converse changes to breast cancer-related protein-coding genes. PMID:25264628
Long non-coding RNAs and control of gene expression in the immune system. PMID:25262537
lincRNA-RoR and miR-145 regulate invasion in triple-negative breast cancer via targeting ARF6. PMID:25253741
High-resolution transcriptome analysis with long-read RNA sequencing. PMID:25251678
PLEK: a tool for predicting long non-coding RNAs and messenger RNAs based on an improved k-mer scheme. PMID:25239089
Long non-coding RNAs as a source of new peptides. PMID:25233276
LncRBase: an enriched resource for lncRNA information. PMID:25233092
Novel copy-number variants in a population-based investigation of classic heterotaxy. PMID:25232849
Resetting transcription factor control circuitry toward ground-state pluripotency in human. PMID:25215486
The landscape of kinase fusions in cancer. PMID:25204415
Global genomic and transcriptomic analysis of human pancreatic islets reveals novel genes influencing glucose metabolism. PMID:25201977
Mutational analysis of genes coding for cell surface proteins in colorectal cancer cell lines reveal novel altered pathways, druggable mutations and mutated epitopes for targeted therapy. PMID:25193853
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. PMID:25192044
Advances in translational biomedicine from systems approaches. PMID:25177342
Frameshift alignment: statistics and post-genomic applications. PMID:25172925
The architecture of a scrambled genome reveals massive levels of genomic rearrangement during development. PMID:25171416
Ribosome profiling reveals pervasive translation outside of annotated protein-coding genes. PMID:25159147
A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium. PMID:25150838
Identification of genetic variants associated with alternative splicing using sQTLseekeR. PMID:25140736
Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants. PMID:25133550
Long noncoding RNA associated-competing endogenous RNAs in gastric cancer. PMID:25124853
Complex interactions of transcription factors in mediating cytokine biology in T cells. PMID:25123282
Negative regulation of the interferon response by an interferon-induced long non-coding RNA. PMID:25122750
Down-regulation of long non-coding RNA GAS5 is associated with the prognosis of hepatocellular carcinoma. PMID:25120813
Transcriptome sequencing reveals altered long intergenic non-coding RNAs in lung cancer. PMID:25116943
Alternative forms of Y-box binding protein 1 and YB-1 mRNA. PMID:25116735
Identification of copy number variants from exome sequence data. PMID:25102989
Genome-wide mapping and characterization of Notch-regulated long noncoding RNAs in acute leukemia. PMID:25083870
SNP@lincTFBS: an integrated database of polymorphisms in human LincRNA transcription factor binding sites. PMID:25075616
Whole-genome bisulfite sequencing of multiple individuals reveals complementary roles of promoter and gene body methylation in transcriptional regulation. PMID:25074712
A wavelet approach to detect enriched regions and explore epigenomic landscapes. PMID:25072902
Missing genetic risk in neural tube defects: can exome sequencing yield an insight? PMID:25044326
Construction of mate pair full-length cDNAs libraries and characterization of transcriptional start sites and termination sites. PMID:25034687
Data integration in the era of omics: current and future challenges. PMID:25032990
Identification and characterization of long intergenic non-coding RNAs related to mouse liver development. PMID:25012394
Exploring the stability of long intergenic non-coding RNA in K562 cells by comparative studies of RNA-Seq datasets. PMID:24996425
Coherent somatic mutation in autoimmune disease. PMID:24988487
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile. PMID:24986124
EZH2-mediated epigenetic suppression of long noncoding RNA SPRY4-IT1 promotes NSCLC cell proliferation and metastasis by affecting the epithelial-mesenchymal transition. PMID:24967960
Defining a personal, allele-specific, and single-molecule long-read transcriptome. PMID:24961374
The emerging era of genomic data integration for analyzing splice isoform function. PMID:24951248
Choice of transcripts and software has a large effect on variant annotation. PMID:24944579
Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes. PMID:24939910
Long non-coding RNA-dependent transcriptional regulation in neuronal development and disease. PMID:24936207
Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome. PMID:24932682
Dicer-microRNA-Myc circuit promotes transcription of hundreds of long noncoding RNAs. PMID:24929436
Capture and Amplification by Tailing and Switching (CATS). An ultrasensitive ligation-independent method for generation of DNA libraries for deep sequencing from picogram amounts of DNA and RNA. PMID:24922482
Analysis and expansion of the eosinophilic esophagitis transcriptome by RNA sequencing. PMID:24920534
Structured RNAs and synteny regions in the pig genome. PMID:24917120
Genome-wide identification of long intergenic noncoding RNA genes and their potential association with domestication in pigs. PMID:24891613
Computational approaches for isoform detection and estimation: good and bad news. PMID:24885830
Genetic distance as an alternative to physical distance for definition of gene units in association studies. PMID:24884992
Integrative transcriptome meta-analysis reveals widespread sex-biased gene expression at the human fetal-maternal interface. PMID:24867328
Deep sequencing of HIV-infected cells: insights into nascent transcription and host-directed therapy. PMID:24850744
A Bayesian method to incorporate hundreds of functional characteristics with association evidence to improve variant prioritization. PMID:24844982
Long non-coding RNAs in stem cells and cancer. PMID:24829860
Global view of enhancer-promoter interactome in human cells. PMID:24821768
Realistic artificial DNA sequences as negative controls for computational genomics. PMID:24803667
Using common variants to indicate cancer genes. PMID:24798945
A comprehensive resequence-analysis of 250 kb region of 8q24.21 in men of African ancestry. PMID:24783269
Deep transcriptome profiling of mammalian stem cells supports a regulatory role for retrotransposons in pluripotency maintenance. PMID:24777452
Genetic interactions affecting human gene expression identified by variance association mapping. PMID:24771767
Multi-ethnic fine-mapping of 14 central adiposity loci. PMID:24760767
Guidelines for investigating causality of sequence variants in human disease. PMID:24759409
Heat shock alters the expression of schizophrenia and autism candidate genes in an induced pluripotent stem cell model of the human telencephalon. PMID:24736721
TF2LncRNA: identifying common transcription factors for a list of lncRNA genes from ChIP-Seq data. PMID:24729968
Improved annotation of 3' untranslated regions and complex loci by combination of strand-specific direct RNA sequencing, RNA-Seq and ESTs. PMID:24722185
A short guide to long non-coding RNA gene nomenclature. PMID:24716852
Evidence for the biogenesis of more than 1,000 novel human microRNAs. PMID:24708865
Identification and characterization of alternative splicing in parasitic nematode transcriptomes. PMID:24690220
The retrovirus HERVH is a long noncoding RNA required for human embryonic stem cell identity. PMID:24681886
Diversity and dynamics of the Drosophila transcriptome. PMID:24670639
Effects of cytosine methylation on transcription factor binding sites. PMID:24669864
Long non-coding RNA and alternative splicing modulations in Parkinson's leukocytes identified by RNA sequencing. PMID:24651478
Genome-guided transcript assembly by integrative analysis of RNA sequence data. PMID:24633242
The challenges and importance of structural variation detection in livestock. PMID:24600474
MARIS: method for analyzing RNA following intracellular sorting. PMID:24594682
Cell cycle, oncogenic and tumor suppressor pathways regulate numerous long and macro non-protein-coding RNAs. PMID:24594072
AnaLysis of Expression on human chromosome 21, ALE-HSA21: a pilot integrated web resource. PMID:24573881
Exome-based mapping and variant prioritization for inherited Mendelian disorders. PMID:24560519
The master regulator of the cellular stress response (HSF1) is critical for orthopoxvirus infection. PMID:24516381
Differentiated human stem cells resemble fetal, not adult, β cells. PMID:24516164
A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events. PMID:24498085
The cleverSuite approach for protein characterization: predictions of structural properties, solubility, chaperone requirements and RNA-binding abilities. PMID:24493033
bwtool: a tool for bigWig files. PMID:24489365
Functional annotation of noncoding sequence variants. PMID:24487584
Combinatorial epigenetic patterns as quantitative predictors of chromatin biology. PMID:24472558
Exon identity crisis: disease-causing mutations that disrupt the splicing code. PMID:24456648
A survey of software for genome-wide discovery of differential splicing in RNA-Seq data. PMID:24447644
Single molecule fluorescence approaches shed light on intracellular RNAs. PMID:24417544
Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes. PMID:24412096
Dissecting the expression landscape of RNA-binding proteins in human cancers. PMID:24410894
Constitutive patterns of gene expression regulated by RNA-binding proteins. PMID:24401680
Sebnif: an integrated bioinformatics pipeline for the identification of novel large intergenic noncoding RNAs (lincRNAs)--application in human skeletal muscle cells. PMID:24400097
CGAT: computational genomics analysis toolkit. PMID:24395753
Extensive localization of long noncoding RNAs to the cytosol and mono- and polyribosomal complexes. PMID:24393600
Genomics of alternative splicing: evolution, development and pathophysiology. PMID:24378600
Feature-based classification of amino acid substitutions outside conserved functional protein domains. PMID:24348198
Comparative genomic analysis of eutherian ribonuclease A genes. PMID:24337645
Long non-coding RNAs and chromatin modifiers: their place in the epigenetic code. PMID:24335342
Systematic discovery and characterization of regulatory motifs in ENCODE TF binding experiments. PMID:24335146
Transparency tools in gene patenting for informing policy and practice. PMID:24316644
The Vertebrate Genome Annotation browser 10 years on. PMID:24316575
DPRP: a database of phenotype-specific regulatory programs derived from transcription factor binding data. PMID:24302579
From single-cell to cell-pool transcriptomes: stochasticity in gene expression and RNA splicing. PMID:24299736
starBase v2.0: decoding miRNA-ceRNA, miRNA-ncRNA and protein-RNA interaction networks from large-scale CLIP-Seq data. PMID:24297251
Genetic associations with 25-hydroxyvitamin D deficiency in HIV-1-infected youth: fine-mapping for the GC/DBP gene that encodes the vitamin D-binding protein. PMID:24294218
Chromatin signatures at transcriptional start sites separate two equally populated yet distinct classes of intergenic long noncoding RNAs. PMID:24289259
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants. PMID:24285302
Expression and phosphorylation of the AS160_v2 splice variant supports GLUT4 activation and the Warburg effect in multiple myeloma. PMID:24280290
The UCSC Genome Browser database: 2014 update. PMID:24270787
Genetic and epigenetic regulation of human lincRNA gene expression. PMID:24268656
Comprehensive analysis of long non-coding RNAs in ovarian cancer reveals global patterns and targeted DNA amplification. PMID:24265805
Systematically differentiating functions for alternatively spliced isoforms through integrating RNA-seq data. PMID:24244129
Identification of novel transcripts and noncoding RNAs in bovine skin by deep next generation sequencing. PMID:24225384
Many human accelerated regions are developmental enhancers. PMID:24218637
Current status and new features of the Consensus Coding Sequence database. PMID:24217909
Regulatory Roles for Long ncRNA and mRNA. PMID:24216986
Finding the active genes in deep RNA-seq gene expression studies. PMID:24215113
SelenoDB 2.0: annotation of selenoprotein genes in animals and their genetic diversity in humans. PMID:24194593
Coupling transcription factor occupancy to nucleosome architecture with DNase-FLASH. PMID:24185839
Assessment of transcript reconstruction methods for RNA-seq. PMID:24185837
A genome-wide association study of prostate cancer in West African men. PMID:24185611
Large-scale mass spectrometric detection of variant peptides resulting from nonsynonymous nucleotide differences. PMID:24175627
Functional transcriptomics in the post-ENCODE era. PMID:24172201
Integrating and mining the chromatin landscape of cell-type specificity using self-organizing maps. PMID:24170599
Transcriptome interrogation of human myometrium identifies differentially expressed sense-antisense pairs of protein-coding and long non-coding RNA genes in spontaneous labor at term. PMID:24168098
Long non-coding RNA HOTAIR in carcinogenesis and metastasis. PMID:24165275
Gene regulation by non-coding RNAs. PMID:24164576
An emerging role for long non-coding RNA dysregulation in neurological disorders. PMID:24129177
A single-molecule long-read survey of the human transcriptome. PMID:24108091
Transcriptome comparison of human neurons generated using induced pluripotent stem cells derived from dental pulp and skin fibroblasts. PMID:24098394
Extensive divergence of transcription factor binding in Drosophila embryos with highly conserved gene expression. PMID:24068946
Transcriptome and genome sequencing uncovers functional variation in humans. PMID:24037378
Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division. PMID:24026178
Noncoding RNA in oncogenesis: a new era of identifying key players. PMID:24013378
Principles of self-organization in biological pathways: a hypothesis on the autogenous association of alpha-synuclein. PMID:24003031
Dynamic regulation of the transcription initiation landscape at single nucleotide resolution during vertebrate embryogenesis. PMID:24002785
Web Apollo: a web-based genomic annotation editing platform. PMID:24000942
Finding the lost treasures in exome sequencing data. PMID:23972387
Transcriptomic signatures in cartilage ageing. PMID:23971731
A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes. PMID:23966869
Identification of the missing pluripotency mediator downstream of leukaemia inhibitory factor. PMID:23942233
Genistein inhibits prostate cancer cell growth by targeting miR-34a and oncogenic HOTAIR. PMID:23936419
Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation. PMID:23903355
Computational approaches to identify functional genetic variants in cancer genomes. PMID:23900255
Detecting and comparing non-coding RNAs in the high-throughput era. PMID:23887659
Transcription factor binding profiles reveal cyclic expression of human protein-coding genes and non-coding RNAs. PMID:23874175
Assessing association between protein truncating variants and quantitative traits. PMID:23860716
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. PMID:23843252
Chromatin-bound RNA and the neurobiology of psychiatric disease. PMID:23831425
Dissecting the Characteristics and Dynamics of Human Protein Complexes at Transcriptome Cascade Using RNA-Seq Data. PMID:23824284
Pervasive transcription of the human genome produces thousands of previously unidentified long intergenic noncoding RNAs. PMID:23818866
Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene. PMID:23815980
Food, nutrigenomics, and neurodegeneration--neuroprotection by what you eat! PMID:23813102
Analysis of long non-coding RNA expression profiles in gastric cancer. PMID:23801869
Separating homeologs by phasing in the tetraploid wheat transcriptome. PMID:23800085
A probabilistic approach to learn chromatin architecture and accurate inference of the NF-κB/RelA regulatory network using ChIP-Seq. PMID:23771139
The non-obese diabetic mouse sequence, annotation and variation resource: an aid for investigating type 1 diabetes. PMID:23729657
A brief review on the Human Encyclopedia of DNA Elements (ENCODE) project. PMID:23722115
A statistical framework for power calculations in ChIP-seq experiments. PMID:23665773
Transposable elements are major contributors to the origin, diversification, and regulation of vertebrate long noncoding RNAs. PMID:23637635
Discovery and mass spectrometric analysis of novel splice-junction peptides using RNA-Seq. PMID:23629695
Genomics and proteomics in solving brain complexity. PMID:23615871
Peppy: proteogenomic search software. PMID:23614390
Conserved expression of natural antisense transcripts in mammals. PMID:23577827
Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians. PMID:23577066
A new method for stranded whole transcriptome RNA-seq. PMID:23557989
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy. PMID:23533785
Long noncoding RNAs: new players in the molecular mechanism for maintenance and differentiation of pluripotent stem cells. PMID:23528033
Genomic and epigenomic insights into nutrition and brain disorders. PMID:23503168
Transcriptional regulation and its misregulation in disease. PMID:23498934
Non-Coding RNAs: Functional Aspects and Diagnostic Utility in Oncology. PMID:23455466
Accurate identification and analysis of human mRNA isoforms using deep long read sequencing. PMID:23450794
Incorporating the human gene annotations in different databases significantly improved transcriptomic and genetic analyses. PMID:23431329
Inference of natural selection from interspersed genomic elements based on polymorphism and divergence. PMID:23386628
Predicting cell types and genetic variations contributing to disease by combining GWAS and epigenetic data. PMID:23382893
Regulatory mechanisms of long noncoding RNAs in vertebrate central nervous system development and function. PMID:23337534
DIANA-LncBase: experimentally verified and computationally predicted microRNA targets on long non-coding RNAs. PMID:23193281
ENCODE data in the UCSC Genome Browser: year 5 update. PMID:23193274
APPRIS: annotation of principal and alternative splice isoforms. PMID:23161672
Uniting ENCODE with genome-wide proteomics. PMID:23138303
A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish. PMID:23118857
STAR: ultrafast universal RNA-seq aligner. PMID:23104886
Differentially expressed, variant U1 snRNAs regulate gene expression in human cells. PMID:23070852
Annotation of functional variation in personal genomes using RegulomeDB. PMID:22955989
The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression. PMID:22955988
Linking disease associations with regulatory information in the human genome. PMID:22955986
Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements. PMID:22955985
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome. PMID:22955982
Understanding transcriptional regulation by integrative analysis of transcription factor binding data. PMID:22955978
Toward mapping the biology of the genome. PMID:22955973
What does our genome encode? PMID:22955972
Decoding the human genome. PMID:22955971
The long-range interaction landscape of gene promoters. PMID:22955621
Landscape of transcription in human cells. PMID:22955620
The accessible chromatin landscape of the human genome. PMID:22955617
An integrated encyclopedia of DNA elements in the human genome. PMID:22955616
The GENCODE pseudogene resource. PMID:22951037
The Ensembl Variant Effect Predictor PubMed citations: 2021.

2021 articles citing: The Ensembl Variant Effect Predictor

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. PMID:35925398
Transcriptome variation in human tissues revealed by long-read sequencing. PMID:35922509
Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family. PMID:35905044
Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity. PMID:35896531
Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort. PMID:35888728
Large-Scale Multi-Omics Studies Provide New Insights into Blood Pressure Regulation. PMID:35886906
Functional Genomics Analysis to Disentangle the Role of Genetic Variants in Major Depression. PMID:35886042
Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort. PMID:35886038
Genome-Wide Analysis Identifies Candidate Genes Encoding Feather Color in Ducks. PMID:35886032
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA. PMID:35885997
Dynamic Features of Chromosomal Instability during Culture of Induced Pluripotent Stem Cells. PMID:35885940
Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing. PMID:35884979
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. PMID:35884425
Nisin Mutant Prevention Concentration and the Role of Subinhibitory Concentrations on Resistance Development by Diabetic Foot Staphylococci. PMID:35884226
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. PMID:35883178
Somatic DNA Damage Response and Homologous Repair Gene Alterations and Its Association With Tumor Variant Burden in Breast Cancer Patients With Occupational Exposure to Pesticides. PMID:35875117
Unravelling genetic variants of a swedish family with high risk of prostate cancer. PMID:35870994
PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients. PMID:35867729
Integrative Genomic and Transcriptomic Analysis of Primary Malignant Gliomas Revealed Different Patterns Between Grades and Somatic Mutations Related to Glioblastoma Prognosis. PMID:35865002
Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan. PMID:35864541
Pan-cancer analyses of synonymous mutations based on tissue-specific codon optimality. PMID:35860410
The sequences of 150,119 genomes in the UK Biobank. PMID:35859178
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia. PMID:35854323
Targeting Mre11 overcomes platinum resistance and induces synthetic lethality in XRCC1 deficient epithelial ovarian cancers. PMID:35853939
Immuno-Modulatory Effects of Intervertebral Disc Cells. PMID:35846355
Tumor treating fields affect mesothelioma cell proliferation by exerting histotype-dependent cell cycle checkpoint activations and transcriptional modulations. PMID:35840560
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis. PMID:35835912
Heterogeneous Distribution of Genetic Mutations in Myosin Binding Protein-C Paralogs. PMID:35832193
Meiotic drive in house mice: mechanisms, consequences, and insights for human biology. PMID:35829972
Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity. PMID:35817971
Analysis of the docking property of host variants of hACE2 for SARS-CoV-2 in a large cohort. PMID:35816517
Decoding RNA Editing Sites Through Transcriptome Analysis in Rice Under Alkaline Stress. PMID:35812946
Dissecting Generalizability and Actionability of Disease-Associated Genes From 20 Worldwide Ethnolinguistic Cultural Groups. PMID:35812734
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. PMID:35803923
Patient-derived renal cell carcinoma organoids for personalized cancer therapy. PMID:35802820
A Molecularly Characterized Preclinical Platform of Subcutaneous Renal Cell Carcinoma (RCC) Patient-Derived Xenograft Models to Evaluate Novel Treatment Strategies. PMID:35800063
Gut microbiota composition in colorectal cancer patients is genetically regulated. PMID:35794137
Baseline and post-treatment biomarkers of resistance to anti-PD-1 therapy in acral and mucosal melanoma: an observational study. PMID:35793874
Local and systemic immune profiles of human pancreatic ductal adenocarcinoma revealed by single-cell mass cytometry. PMID:35793870
Deciphering associations between three RNA splicing-related genetic variants and lung cancer risk. PMID:35773316
A genome-wide cross-trait analysis identifies shared loci and causal relationships of type 2 diabetes and glycaemic traits with polycystic ovary syndrome. PMID:35771237
Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank. PMID:35761239
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. PMID:35760791
Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment. PMID:35759154
Computational cancer neoantigen prediction: current status and recent advances. PMID:35755950
Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data. PMID:35751013
Microbiome-associated human genetic variants impact phenome-wide disease risk. PMID:35749358
Transcription factor retention through multiple polyploidization steps in wheat. PMID:35748743
Genomic Analysis of Waterpipe Smoke-Induced Lung Tumor Autophagy and Plasticity. PMID:35743294
mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights. PMID:35736459
Single-nucleus profiling of human dilated and hypertrophic cardiomyopathy. PMID:35732739
QTL-mapping in the obese Berlin Fat Mouse identifies additional candidate genes for obesity and fatty liver disease. PMID:35729251
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19. PMID:35725860
Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62. PMID:35725745
SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains. PMID:35720252
Using genomics to understand the mechanisms of virulence and drug resistance in fungal pathogens. PMID:35713390
Contribution of Helicobacter pylori to the Inflammatory Complications of Common Variable Immunodeficiency. PMID:35711410
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications. PMID:35710456
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. PMID:35708626
Genetic subtypes of smoldering multiple myeloma are associated with distinct pathogenic phenotypes and clinical outcomes. PMID:35705541
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease. PMID:35699195
Genomic architecture and functional effects of potential human inversion supergenes. PMID:35694745
Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity. PMID:35694544
Fine Mapping of a Major Backfat QTL Reveals a Causal Regulatory Variant Affecting the CCND2 Gene. PMID:35692822
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity. PMID:35690068
Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis. PMID:35688625
Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant. PMID:35676284
Enhanced BRAF engagement by NRAS mutants capable of promoting melanoma initiation. PMID:35672316
Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci. PMID:35669185
The drug-induced phenotypic landscape of colorectal cancer organoids. PMID:35668108
Repeated Winning and Losing Experiences in Chronic Social Conflicts Are Linked to RNA Editing Pattern Difference. PMID:35664469
Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects. PMID:35664336
A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics. PMID:35663546
Rare and population-specific functional variation across pig lines. PMID:35659233
CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites. PMID:35657932
A Paradigm Shift in the Combination Changes of SARS-CoV-2 Variants and Increased Spread of Delta Variant (B.1.617.2) across the World. PMID:35656100
MHC class II molecules on pancreatic cancer cells indicate a potential for neo-antigen-based immunotherapy. PMID:35655709
Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes. PMID:35655252
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation. PMID:35654975
How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer? PMID:35641994
Annotation Query (AnnoQ): an integrated and interactive platform for large-scale genetic variant annotation. PMID:35640593
OmicsNet 2.0: a web-based platform for multi-omics integration and network visual analytics. PMID:35639733
Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma. PMID:35637530
In utero origin of myelofibrosis presenting in adult monozygotic twins. PMID:35637336
Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights. PMID:35629091
Effects of Multi-Omics Characteristics on Identification of Driver Genes Using Machine Learning Algorithms. PMID:35627101
Genetic variants associated with two major bovine milk fatty acids offer opportunities to breed for altered milk fat composition. PMID:35619070
Genetic changes associated with relapse in favorable histology Wilms tumor: A Children's Oncology Group AREN03B2 study. PMID:35617957
Genomic Evolution and Personalized Therapy of an Infantile Fibrosarcoma Harboring an NTRK Oncogenic Fusion. PMID:35613412
Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11. PMID:35606653
Allelic Variation in Zmfatb Gene Defines Variability for Fatty Acids Composition Among Diverse Maize Genotypes. PMID:35600823
The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. PMID:35592775
DNA sequence features underlying large-scale duplications and deletions in human. PMID:35590085
Integration of rare expression outlier-associated variants improves polygenic risk prediction. PMID:35588732
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood. PMID:35586607
Breast cancer risks associated with missense variants in breast cancer susceptibility genes. PMID:35585550
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. PMID:35585047
PWWP2B promotes DNA end resection and homologous recombination. PMID:35582821
Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection. PMID:35580180
Genome-Wide Genomic and Functional Association Study for Workability and Calving Traits in Holstein Cattle. PMID:35565554
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies. PMID:35562925
Brain Epitranscriptomic Analysis Revealed Altered A-to-I RNA Editing in Septic Patients. PMID:35559016
Exome sequencing of hepatocellular carcinoma in lemurs identifies potential cancer drivers: A pilot study. PMID:35557512
TMC-SNPdb 2.0: an ethnic-specific database of Indian germline variants. PMID:35551364
Unlocking the functional potential of polyploid yeasts. PMID:35545616
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. PMID:35544052
Identification of biomarkers of response to preoperative talazoparib monotherapy in treatment naïve gBRCA+ breast cancers. PMID:35538088
Identification of heritable rare variants associated with early-stage lung adenocarcinoma risk. PMID:35529798
Lymph node colonization induces tumor-immune tolerance to promote distant metastasis. PMID:35525247
Data Mining, Quality and Management in the Life Sciences. PMID:35507257
Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations. PMID:35504531
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women. PMID:35502621
Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. PMID:35501419
Genetic analysis of the PCSK9 locus in psychological, psychiatric, metabolic and cardiovascular traits in UK Biobank. PMID:35501368
Integrative genomic analysis reveals low T-cell infiltration as the primary feature of tobacco use in HPV-positive oropharyngeal cancer. PMID:35494251
Balancing selection at the human salivary agglutinin gene (DMBT1) driven by host-microbe interactions. PMID:35494225
The Polymorphism and Expression of EGFL7 and miR-126 Are Associated With NSCLC Susceptibility. PMID:35494025
Rare coding variants in DNA damage repair genes associated with timing of natural menopause. PMID:35493704
Comparative Analysis and Data Provenance for 1,113 Bacterial Genome Assemblies. PMID:35491842
Comprehensive profiling of 1015 patients' exomes reveals genomic-clinical associations in colorectal cancer. PMID:35487942
Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia. PMID:35486194
Role of testis‑specific serine kinase 1B in undiagnosed male infertility. PMID:35485285
Computational and experimental methods for classifying variants of unknown clinical significance. PMID:35483875
Genetic and environmental determinants of diastolic heart function. PMID:35479509
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females. PMID:35460069
Robust Mutation Profiling of SARS-CoV-2 Variants from Multiple Raw Illumina Sequencing Data with Cloud Workflow. PMID:35456492
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. PMID:35456481
Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations. PMID:35456429
New Insights on Gene by Environmental Effects of Drugs of Abuse in Animal Models Using GeneNetwork. PMID:35456420
The Impact of Genetic Polymorphisms in Glutamate-Cysteine Ligase, a Key Enzyme of Glutathione Biosynthesis, on Ischemic Stroke Risk and Brain Infarct Size. PMID:35455093
A locus conferring tolerance to Theileria infection in African cattle. PMID:35446841
Astroblastomas exhibit radial glia stem cell lineages and differential expression of imprinted and X-inactivation escape genes. PMID:35440587
Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management. PMID:35440040
Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome. PMID:35422839
Genome-Wide Association Study of Campylobacter-Positive Diarrhea Identifies Genes Involved in Toxin Processing and Inflammatory Response. PMID:35420468
Mutation rate of SARS-CoV-2 and emergence of mutators during experimental evolution. PMID:35419205
Comparative Analysis of Differentially Mutated Genes in Non-Muscle and Muscle-Invasive Bladder Cancer in the Chinese Population by Whole Exome Sequencing. PMID:35419031
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. PMID:35410376
Lineage Conversion in Pediatric B-Cell Precursor Acute Leukemia under Blinatumomab Therapy. PMID:35409391
Deciphering Haplotypic Variation and Gene Expression Dynamics Associated with Nutritional and Cooking Quality in Rice. PMID:35406707
One Health and Cattle Genetic Resources: Mining More than 500 Cattle Genomes to Identify Variants in Candidate Genes Potentially Affecting Coronavirus Infections. PMID:35405828
Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis. PMID:35402285
The first successful treatment and genetic sequencing of primary hepatic adenosarcoma with sarcomatous overgrowth: a case report. PMID:35400213
Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia. PMID:35399540
The Genomic Landscape of Early-Stage Ovarian High-Grade Serous Carcinoma. PMID:35398881
Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels. PMID:35396452
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. PMID:35395208
Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. PMID:35393509
Phase 1b study of berzosertib and cisplatin in patients with advanced triple-negative breast cancer. PMID:35393425
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. PMID:35388217
Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics. PMID:35387445
In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways. PMID:35386434
Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset. PMID:35386118
Neutralizing antibody response against the B.1.617.2 (delta) and the B.1.1.529 (omicron) variants after a third mRNA SARS-CoV-2 vaccine dose in kidney transplant recipients. PMID:35384272
RNA sequencing role and application in clinical diagnostic. PMID:35382420
Analyzing human knockouts to validate GPR151 as a therapeutic target for reduction of body mass index. PMID:35381001
Harmonizing model organism data in the Alliance of Genome Resources. PMID:35380658
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. PMID:35379994
Clinical implementation of RNA sequencing for Mendelian disease diagnostics. PMID:35379322
Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction. PMID:35373735
Multi-Omics Investigations Revealed Underlying Molecular Mechanisms Associated With Tumor Stiffness and Identified Sunitinib as a Potential Therapy for Reducing Stiffness in Pituitary Adenomas. PMID:35372359
Therapeutic and immunomodulatory potential of pazopanib in malignant phyllodes tumor. PMID:35365682
Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program. PMID:35363308
Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1. PMID:35360848
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex. PMID:35358092
A complete reference genome improves analysis of human genetic variation. PMID:35357935
Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia. PMID:35351988
Runs of Homozygosity Uncover Potential Functional-Altering Mutation Associated With Body Weight and Length in Two Duroc Pig Lines. PMID:35350434
Genomic diversity and post-admixture adaptation in the Uyghurs. PMID:35350227
Genetic variants of the hypoxia-inducible factor 3 alpha subunit (Hif3a) gene in the Fat and Lean mouse selection lines. PMID:35347545
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification. PMID:35347147
Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology. PMID:35347136
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci. PMID:35347128
Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics. PMID:35346197
Computational Analysis of the Potential Impact of MTC Complex Missenses SNPs Associated with Male Infertility. PMID:35342767
Hypothalamic Irak4 is a genetically controlled regulator of hypoglycemia-induced glucagon secretion. PMID:35339728
Genetic regulation of post-translational modification of two distinct proteins. PMID:35332118
A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel-Palade Bodies. PMID:35328514
Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients. PMID:35328087
Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder. PMID:35327467
Comprehensive Analyses of Bone and Cartilage Transcriptomes Evince Ion Transport, Inflammation and Cartilage Development-Related Genes Involved in Chickens' Femoral Head Separation. PMID:35327184
Significant sparse polygenic risk scores across 813 traits in UK Biobank. PMID:35324888
Reduced reproductive success is associated with selective constraint on human genes. PMID:35322230
Genome-Wide Association Study Identifies Genetic Loci Associated With Fat Cell Number and Overlap With Genetic Risk Loci for Type 2 Diabetes. PMID:35320353
Characterization of the genetic architecture of infant and early childhood body mass index. PMID:35315439
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant. PMID:35311234
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. PMID:35311178
Cancer Neoantigens: Challenges and Future Directions for Prediction, Prioritization, and Validation. PMID:35311072
NeoScore Integrates Characteristics of the Neoantigen:MHC Class I Interaction and Expression to Accurately Prioritize Immunogenic Neoantigens. PMID:35304420
RAREsim: A simulation method for very rare genetic variants. PMID:35298919
Positive selection acts on regulatory genetic variants in populations of European ancestry that affect ALDH2 gene expression. PMID:35296751
Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme. PMID:35296311
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions. PMID:35288444
Genome-wide investigation and functional analysis of RNA editing sites in wheat. PMID:35275970
Deciphering the Retinal Epigenome during Development, Disease and Reprogramming: Advancements, Challenges and Perspectives. PMID:35269428
Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes. PMID:35264221
Assessment of linkage disequilibrium patterns between structural variants and single nucleotide polymorphisms in three commercial chicken populations. PMID:35264116
A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities. PMID:35255804
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies. PMID:35250806
RASGRF1 Fusions Activate Oncogenic RAS Signaling and Confer Sensitivity to MEK Inhibition. PMID:35247929
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies. PMID:35246562
Allele-specific expression reveals genes with recurrent cis-regulatory alterations in high-risk neuroblastoma. PMID:35246212
Tertiary lymphoid structure and decreased CD8+ T cell infiltration in minimally invasive adenocarcinoma. PMID:35243243
Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease. PMID:35237542
Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection. PMID:35234813
TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs. PMID:35232478
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
Somatic and Germline Variant Calling from Next-Generation Sequencing Data. PMID:35230682
GWAS in people of Middle Eastern descent reveals a locus protective of kidney function-a cross-sectional study. PMID:35227251
Comparison of multiple imputation algorithms and verification using whole-genome sequencing in the CMUH genetic biobank. PMID:35223420
A human breast cancer-derived xenograft and organoid platform for drug discovery and precision oncology. PMID:35221336
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology. PMID:35221333
PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus. PMID:35217695
Characterizing mobile element insertions in 5675 genomes. PMID:35212372
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model. PMID:35211795
Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing. PMID:35210354
SWAAT Bioinformatics Workflow for Protein Structure-Based Annotation of ADME Gene Variants. PMID:35207751
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene. PMID:35205353
Genomic Hatchery Introgression in Brown Trout (Salmo trutta L.): Development of a Diagnostic SNP Panel for Monitoring the Impacted Mediterranean Rivers. PMID:35205298
Chemerin Impact on Alternative mRNA Transcription in the Porcine Luteal Cells. PMID:35203364
Genetic associations of protein-coding variants in human disease. PMID:35197637
Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis. PMID:35197475
Genomic characterization of the world's longest selection experiment in mouse reveals the complexity of polygenic traits. PMID:35189878
Cancer/Testis Antigen 55 is required for cancer cell proliferation and mitochondrial DNA maintenance. PMID:35189384
EBF1 nuclear repositioning instructs chromatin refolding to promote therapy resistance in T leukemic cells. PMID:35182476
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery. PMID:35181971
Evaluating the detection ability of a range of epistasis detection methods on simulated data for pure and impure epistatic models. PMID:35180244
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. PMID:35178824
An Alu insertion map of the Indian population: identification and analysis in 1021 genomes of the IndiGen project. PMID:35178516
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. PMID:35177841
BrewerIX enables allelic expression analysis of imprinted and X-linked genes from bulk and single-cell transcriptomes. PMID:35177756
Dihydroceramide- and ceramide-profiling provides insights into human cardiometabolic disease etiology. PMID:35177612
Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium. PMID:35177608
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation. PMID:35176222
Transcriptome-wide association study of coronary artery disease identifies novel susceptibility genes. PMID:35175464
The S100A7 nuclear interactors in autoimmune diseases: a coevolutionary study in mammals. PMID:35174412
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia. PMID:35172124
Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS. PMID:35170849
Large-scale association study on daily weight gain in pigs reveals overlap of genetic factors for growth in humans. PMID:35168569
Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect. PMID:35159210
Rare Occurrence of Aristolochic Acid Mutational Signatures in Oro-Gastrointestinal Tract Cancers. PMID:35158844
Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients. PMID:35150001
Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer. PMID:35148171
An effector index to predict target genes at GWAS loci. PMID:35147782
Hybridization underlies localized trait evolution in cavefish. PMID:35146393
High male specific contribution of the X-chromosome to individual global recombination rate in dairy cattle. PMID:35144552
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research. PMID:35143074
Mapping clustered mutations in cancer reveals APOBEC3 mutagenesis of ecDNA. PMID:35140399
Zebrafish patient-derived xenograft models predict lymph node involvement and treatment outcome in non-small cell lung cancer. PMID:35139880
Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits. PMID:35138379
Genetic load: genomic estimates and applications in non-model animals. PMID:35136196
WormBase in 2022-data, processes, and tools for analyzing Caenorhabditis elegans. PMID:35134929
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. PMID:35134542
Prioritization of putatively detrimental variants in euploid miscarriages. PMID:35132093
Genome-wide association meta-analysis identifies 29 new acne susceptibility loci. PMID:35132056
Integrative Genomic Analyses of 1,145 Patient Samples Reveal New Biomarkers in Esophageal Squamous Cell Carcinoma. PMID:35127817
Multiregion sequencing of sarcomatoid renal cell carcinoma arising from autosomal dominant polycystic kidney disease. PMID:35122417
Targeting purine synthesis in ASS1-expressing tumors enhances the response to immune checkpoint inhibitors. PMID:35121952
Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits. PMID:35121771
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene. PMID:35121750
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. PMID:35119225
Exploration of the genomic landscape of a long-term surviving stage III colorectal cancer patient identifies recurrent and rare mutations: a case report. PMID:35117655
Computational Prediction of the Pathogenic Status of Cancer-Specific Somatic Variants. PMID:35116056
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles. PMID:35115687
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report. PMID:35114981
Inhibition of BCL2A1 by STAT5 inactivation overcomes resistance to targeted therapies of FLT3-ITD/D835 mutant AML. PMID:35114569
Fast neutron mutagenesis in soybean enriches for small indels and creates frameshift mutations. PMID:35100358
Role of IGF2 in the Study of Development and Evolution of Prostate Cancer. PMID:35095996
Heritability of social behavioral phenotypes and preliminary associations with autism spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study. PMID:35092647
Variant interpretation: UCSC Genome Browser Recommended Track Sets. PMID:35088925
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases. PMID:35087072
Endosomal cargo recycling mediated by Gpa1 and phosphatidylinositol 3-kinase is inhibited by glucose starvation. PMID:35080991
Variant pathogenic prediction by locus variability: the importance of the current picture of evolution. PMID:35079159
Coding and regulatory variants are associated with serum protein levels and disease. PMID:35079000
A genome-wide association study of serum proteins reveals shared loci with common diseases. PMID:35078996
Parallel functional assessment of m6A sites in human endodermal differentiation with base editor screens. PMID:35078991
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. PMID:35077597
Population-Based Penetrance of Deleterious Clinical Variants. PMID:35076666
Mitochondrial DNA variation across 56,434 individuals in gnomAD. PMID:35074858
Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing. PMID:35074424
Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci. PMID:35073835
The structural coverage of the human proteome before and after AlphaFold. PMID:35073311
Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort. PMID:35070997
Alzheimer's Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer's Disease. PMID:35068457
Tissue-specific multi-omics analysis of atrial fibrillation. PMID:35064145
Genome-Wide Analysis of Disordered Eating Behavior in the Mexican Population. PMID:35057575
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics. PMID:35055388
Canine Oral Melanoma Genomic and Transcriptomic Study Defines Two Molecular Subgroups with Different Therapeutical Targets. PMID:35053440
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders. PMID:35052839
Cyanogenesis in the Sorghum Genus: From Genotype to Phenotype. PMID:35052482
Thirteen Independent Genetic Loci Associated with Preserved Processing Speed in a Study of Cognitive Resilience in 330,097 Individuals in the UK Biobank. PMID:35052462
Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel. PMID:35052376
Genetic Dissection of Temperament Personality Traits in Italian Isolates. PMID:35052345
Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas. PMID:35047820
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. PMID:35045337
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry. PMID:35039564
Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer. PMID:35039523
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. PMID:35039090
Historical museum samples enable the examination of divergent and parallel evolution during invasion. PMID:35038768
Scripting Analyses of Genomes in Ensembl Plants. PMID:35037199
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry. PMID:35036865
Aristotle: stratified causal discovery for omics data. PMID:35033007
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants. PMID:35032432
Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. PMID:35031607
From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene. PMID:35017390
Genomic landscape of TCRαβ and TCRγδ T-large granular lymphocyte leukemia. PMID:35015834
Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings. PMID:35015700
SorghumBase: a web-based portal for sorghum genetic information and community advancement. PMID:35015132
A de novo paradigm for male infertility. PMID:35013161
Comprehensive Molecular Landscape of Cetuximab Resistance in Head and Neck Cancer Cell Lines. PMID:35011716
Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B. PMID:35011680
Whole-Exome Sequencing of HPV Positive Tonsillar and Base of Tongue Squamous Cell Carcinomas Reveals a Global Mutational Pattern along with Relapse-Specific Somatic Variants. PMID:35008243
Proteomic identification of proliferation and progression markers in human polycythemia vera stem and progenitor cells. PMID:35008095
RAD50 deficiency is a predictor of platinum sensitivity in sporadic epithelial ovarian cancers. PMID:35006434
A network-based integration for understanding racial disparity in prostate cancer. PMID:34998235
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity. PMID:34996976
Characterization of non-specific lipid transfer protein (nsLtp) gene families in the Brassica napus pangenome reveals abundance variation. PMID:34996379
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency. PMID:34992263
Hepatocellular carcinoma patients with high circulating cytotoxic T cells and intra-tumoral immune signature benefit from pembrolizumab: results from a single-arm phase 2 trial. PMID:34986867
Evaluation of CRISPR gene-editing tools in zebrafish. PMID:34986794
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation. PMID:34983512
Genetic analysis of a malignant meningioma and associated metastases. PMID:34981192
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans. PMID:34964473
The mitochondrial DNA constitution shaping T-cell immunity in patients with rectal cancer at high risk of metastatic progression. PMID:34961902
Machine learning enables new insights into genetic contributions to liver fat accumulation. PMID:34957434
Genomic analyses of the metastasis-derived prostate cancer cell lines LNCaP, VCaP, and PC3-AR. PMID:34951700
Whole Exome Sequencing-Based Identification of a Novel Gene Involved in Root Hair Development in Barley (Hordeum vulgare L.). PMID:34948205
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly. PMID:34946966
Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia-A Case Study. PMID:34946904
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting. PMID:34946832
Evidence for the Association between the Intronic Haplotypes of Ionotropic Glutamate Receptors and First-Episode Schizophrenia. PMID:34945722
Pan-Genomic Sequencing Reveals Actionable CDKN2A/2B Deletions and Kataegis in Anaplastic Thyroid Carcinoma. PMID:34944959
New Variants of the Cytochrome P450 2R1 (CYP2R1) Gene in Individuals with Severe Vitamin D-Activating Enzyme 25(OH)D Deficiency. PMID:34944511
A Functional Precision Medicine Pipeline Combines Comparative Transcriptomics and Tumor Organoid Modeling to Identify Bespoke Treatment Strategies for Glioblastoma. PMID:34943910
Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia. PMID:34940850
Neoadjuvant immunotherapy with nivolumab and ipilimumab induces major pathological responses in patients with head and neck squamous cell carcinoma. PMID:34937871
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. PMID:34932938
Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach. PMID:34932189
Comprehensive multiomic characterization of human papillomavirus-driven recurrent respiratory papillomatosis reveals distinct molecular subtypes. PMID:34931021
Genome-wide association and functional interrogation identified a variant at 3p26.1 modulating ovarian cancer survival among Chinese women. PMID:34930913
cbpManager: a web application to streamline the integration of clinical and genomic data in cBioPortal to support the Molecular Tumor Board. PMID:34930224
Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease. PMID:34925849
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. PMID:34922620
Design and performance of a bovine 200 k SNP chip developed for endangered German Black Pied cattle (DSN). PMID:34922441
Prioritising positively selected variants in whole-genome sequencing data using FineMAV. PMID:34922440
The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan. PMID:34915860
Patient-Derived Upper Tract Urothelial Carcinoma Organoids as a Platform for Drug Screening. PMID:34914855
Oral Squamous Cell Carcinoma in Young Patients Show Higher Rates of EGFR Amplification: Implications for Novel Personalized Therapy. PMID:34912708
Genomic signatures of pre-resistance in Mycobacterium tuberculosis. PMID:34911948
Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder. PMID:34908525
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). PMID:34906470
Accurate Prediction of Protein Sequences for Proteogenomics Data Integration. PMID:34905178
Clinical presentation, treatment, and genetic and histopathological analysis of juvenile cataracts and secondary glaucoma in a rhesus macaque (Macaca mulatta). PMID:34897697
NLR diversity and candidate fusiform rust resistance genes in loblolly pine. PMID:34897455
The genomic basis of high-elevation adaptation in wild house mice (Mus musculus domesticus) from South America. PMID:34897431
The power of genetic diversity in genome-wide association studies of lipids. PMID:34887591
Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas. PMID:34885201
BTK and PI3K Inhibitors Reveal Synergistic Inhibitory Anti-Tumoral Effects in Canine Diffuse Large B-Cell Lymphoma Cells. PMID:34884478
Non-genetic determinants of malignant clonal fitness at single-cell resolution. PMID:34880496
Computational analysis of cancer genome sequencing data. PMID:34880424
Targeted analysis of genomic regions enriched in African ancestry reveals novel classical HLA alleles associated with asthma in Southwestern Europeans. PMID:34880287
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution. PMID:34875679
Multi-omic machine learning predictor of breast cancer therapy response. PMID:34875674
Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis. PMID:34874915
Whole-exome sequencing, EGFR amplification and infiltration patterns in human glioblastoma. PMID:34873478
Sequencing-based genome-wide association studies reporting standards. PMID:34870259
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene. PMID:34861889
Large-scale integration of the plasma proteome with genetics and disease. PMID:34857953
Mapping the serum proteome to neurological diseases using whole genome sequencing. PMID:34857772
A comprehensive genome-wide scan detects genomic regions related to local adaptation and climate resilience in Mediterranean domestic sheep. PMID:34856922
SCOPe: improvements to the structural classification of proteins - extended database to facilitate variant interpretation and machine learning. PMID:34850923
Genomic evidence for inbreeding depression and purging of deleterious genetic variation in Indian tigers. PMID:34848534
A 3D structural SARS-CoV-2-human interactome to explore genetic and drug perturbations. PMID:34845387
Deep learning enables genetic analysis of the human thoracic aorta. PMID:34837083
PharmVIP: A Web-Based Tool for Pharmacogenomic Variant Analysis and Interpretation. PMID:34834582
Genomic and Transcriptomic Profiling of Brain Metastases. PMID:34830758
Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations. PMID:34828448
Genomewide Association Analyses of Lactation Persistency and Milk Production Traits in Holstein Cattle Based on Imputed Whole-Genome Sequence Data. PMID:34828436
Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia. PMID:34828413
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. PMID:34828377
First DNA Sequencing in Beninese Indigenous Cattle Breeds Captures New Milk Protein Variants. PMID:34828308
Genetic diversity of 'Very Important Pharmacogenes' in two South-Asian populations. PMID:34824904
Non-coding regulatory elements: Potential roles in disease and the case of epilepsy. PMID:34820881
Synergistic insights into human health from aptamer- and antibody-based proteomic profiling. PMID:34819519
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer. PMID:34817745
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial. PMID:34816521
Mutation saturation for fitness effects at human CpG sites. PMID:34806592
Mitotic Errors Promote Genomic Instability and Leukemia in a Novel Mouse Model of Fanconi Anemia. PMID:34804941
Case Report: Reactive Lymphohistiocytic Proliferation in Infant With a Novel Nonsense Variant of IL2RG Who Received BCG Vaccine. PMID:34796149
Associations Between the Purinergic Receptor P2X7 and Leprosy Disease. PMID:34795692
Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. PMID:34795337
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. PMID:34795310
Ensembl Genomes 2022: an expanding genome resource for non-vertebrates. PMID:34791415
Ensembl 2022. PMID:34791404
Transmission distortion and genetic incompatibilities between alleles in a multigenerational mouse advanced intercross line. PMID:34791189
Soluble guanylate cyclase signalling mediates etoposide resistance in progressing small cell lung cancer. PMID:34789728
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome. PMID:34789164
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. PMID:34788397
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4. PMID:34785669
Short NK- and Naïve T-Cell Telomere Length Is Associated with Thyroid Cancer in Childhood Cancer Survivors: A Report from the Childhood Cancer Survivor Study. PMID:34782395
IRF7 and RNH1 are modifying factors of HIV-1 reservoirs: a genome-wide association analysis. PMID:34781942
A Study on the Genetics of Primary Ciliary Dyskinesia. PMID:34768622
PD-1 antibody camrelizumab for Epstein-Barr virus-positive metastatic gastric cancer: a single-arm, open-label, phase 2 trial. PMID:34765307
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants. PMID:34762822
Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes. PMID:34753926
Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases. PMID:34750571
VPMBench: a test bench for variant prioritization methods. PMID:34749640
Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila. PMID:34748544
Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake. PMID:34741066
Advances in integrative African genomics. PMID:34740451
Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer. PMID:34738089
MC3R links nutritional state to childhood growth and the timing of puberty. PMID:34732894
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes. PMID:34732801
Placenta mediates the effect of maternal hypertension polygenic score on offspring birth weight: a study of birth cohort with fetal growth velocity data. PMID:34732167
Allele-specific genomic data elucidate the role of somatic gain and copy-number neutral loss of heterozygosity in cancer. PMID:34731645
Merkel cell polyomavirus-negative Merkel cell carcinoma is associated with JAK-STAT and MEK-ERK pathway activation. PMID:34724284
Analysis of 200,000 Exome-Sequenced UK Biobank Subjects Implicates Genes Involved in Increased and Decreased Risk of Hypertension. PMID:34722352
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations. PMID:34721006
The European Variation Archive: a FAIR resource of genomic variation for all species. PMID:34718739
Exome-Wide Pan-Cancer Analysis of Germline Variants in 8,719 Individuals Finds Little Evidence of Rare Variant Associations. PMID:34718237
Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing. PMID:34716216
Genetic structure of immunologically associated candidate genes suggests arctic rabies variants exert differential selection in arctic fox populations. PMID:34714859
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci. PMID:34711957
Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation. PMID:34702931
Narrow mutational signatures drive acquisition of multidrug resistance in the fungal pathogen Candida glabrata. PMID:34699784
Mouse Genome Informatics (MGI): latest news from MGD and GXD. PMID:34698891
Genomic Epidemiology of SARS-CoV-2 in Pakistan. PMID:34695600
Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders. PMID:34691999
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region. PMID:34691145
Identification of four novel QTL linked to the metabolic syndrome in the Berlin Fat Mouse. PMID:34689180
The flashfm approach for fine-mapping multiple quantitative traits. PMID:34686674
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. PMID:34677878
The intronic branch point sequence is under strong evolutionary constraint in the bovine and human genome. PMID:34675361
A multiethnic whole genome sequencing study to identify novel loci for bone mineral density. PMID:34673960
Profile of esophageal squamous cell carcinoma mutations in Brazilian patients. PMID:34663841
From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries. PMID:34659337
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. PMID:34645894
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. PMID:34645491
TIGER: The gene expression regulatory variation landscape of human pancreatic islets. PMID:34644572
Liquid Biopsy in Gastric Cancer: Analysis of Somatic Cancer Tissue Mutations in Plasma Cell-Free DNA for Predicting Disease State and Patient Survival. PMID:34644276
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins. PMID:34642815
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes. PMID:34642339
Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3. PMID:34636477
Three chromosome-level duck genome assemblies provide insights into genomic variation during domestication. PMID:34635656
The genetic impact of an Ebola outbreak on a wild gorilla population. PMID:34635054
SomaMutDB: a database of somatic mutations in normal human tissues. PMID:34634815
The Ensembl COVID-19 resource: ongoing integration of public SARS-CoV-2 data. PMID:34634797
Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities. PMID:34626176
HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions. PMID:34621299
A systematic analysis of genetic interactions and their underlying biology in childhood cancer. PMID:34615983
Polygenic basis and biomedical consequences of telomere length variation. PMID:34611362
Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. PMID:34610950
Long term follow-up of a phase II study of cladribine with concurrent rituximab with hairy cell leukemia variant. PMID:34607348
Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes. PMID:34604130
Privacy-preserving storage of sequenced genomic data. PMID:34600465
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy. PMID:34598319
Gene-based mapping of trehalose biosynthetic pathway genes reveals association with source- and sink-related yield traits in a spring wheat panel. PMID:34594548
A cross-population atlas of genetic associations for 220 human phenotypes. PMID:34594039
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses. PMID:34592835
Regional TMPRSS2 V197M Allele Frequencies Are Correlated with COVID-19 Case Fatality Rates. PMID:34588322
Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs. PMID:34584846
Mutant collagen COL11A1 enhances cancerous invasion. PMID:34584216
An enhanced variant effect predictor based on a deep generative model and the Born-Again Networks. PMID:34580383
Integrated genomics point to immune vulnerabilities in pleural mesothelioma. PMID:34580349
High Rate of Mutational Events in SARS-CoV-2 Genomes across Brazilian Geographical Regions, February 2020 to June 2021. PMID:34578387
Common and Unique Genetic Background between Attention-Deficit/Hyperactivity Disorder and Excessive Body Weight. PMID:34573389
Real-World Evaluation of Universal Germline Screening for Cancer Treatment-Relevant Pharmacogenes. PMID:34572750
Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis. PMID:34570090
iPSC culture expansion selects against putatively actionable mutations in the mitochondrial genome. PMID:34560000
SNP prioritization in targeted sequencing data associated with humoral immune responses in chicken. PMID:34551372
Distinct clinical characteristics of DUX4- and PAX5-altered childhood B-lymphoblastic leukemia. PMID:34547766
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. PMID:34547244
Variance-component-based meta-analysis of gene-environment interactions for rare variants. PMID:34544119
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders. PMID:34539568
SmProt: A Reliable Repository with Comprehensive Annotation of Small Proteins Identified from Ribosome Profiling. PMID:34536568
PIGG defines the Emm blood group system. PMID:34535746
A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism. PMID:34535545
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution. PMID:34534445
Genetic differentiation of mainland-island sheep of Greece: Implications for identifying candidate genes for long-term local adaptation. PMID:34529728
A modified fluctuation assay reveals a natural mutator phenotype that drives mutation spectrum variation within Saccharomyces cerevisiae. PMID:34523420
Integrated protocol for exitron and exitron-derived neoantigen identification using human RNA-seq data with ScanExitron and ScanNeo. PMID:34522901
The LOVD3 platform: efficient genome-wide sharing of genetic variants. PMID:34521998
Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer. PMID:34521849
Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. PMID:34516545
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing. PMID:34514401
Scalable analysis of multi-modal biomedical data. PMID:34508579
Exploring the Genomic Landscape of Cancer Patient Cohorts with GenVisR. PMID:34506690
Differential whole-genome doubling and homologous recombination deficiencies across breast cancer subtypes from the Taiwanese population. PMID:34504292
Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. PMID:34504065
A genome-wide scan to identify signatures of selection in two Iranian indigenous chicken ecotypes. PMID:34503452
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin. PMID:34494161
Molecular profiling of advanced solid tumours. The impact of experimental molecular-matched therapies on cancer patient outcomes in early-phase trials: the MAST study. PMID:34493820
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data. PMID:34491624
iSheep: an Integrated Resource for Sheep Genome, Variant and Phenotype. PMID:34490043
Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis. PMID:34485203
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency. PMID:34480478
Autophagy promotes growth of tumors with high mutational burden by inhibiting a T-cell immune response. PMID:34476408
Prospects and challenges of cancer systems medicine: from genes to disease networks. PMID:34471925
TSNAD v2.0: A one-stop software solution for tumor-specific neoantigen detection. PMID:34471496
Comprehensive molecular profiling to predict clinical outcomes in pancreatic cancer. PMID:34471425
Full-length isoform transcriptome of the developing human brain provides further insights into autism. PMID:34469739
Building a Chinese pan-genome of 486 individuals. PMID:34462542
Dual PD-L1 and TGF-b blockade in patients with recurrent respiratory papillomatosis. PMID:34462327
Evidence for and localization of proposed causative variants in cattle and pig genomes. PMID:34461824
A Missense Mutation in the MYBPH Gene Is Associated With Abdominal Fat Traits in Meat-Type Chickens. PMID:34456973
SMAD4 is critical in suppression of BRAF-V600E serrated tumorigenesis. PMID:34453124
The PEMDAC phase 2 study of pembrolizumab and entinostat in patients with metastatic uveal melanoma. PMID:34453044
Pan-cancer analysis of longitudinal metastatic tumors reveals genomic alterations and immune landscape dynamics associated with pembrolizumab sensitivity. PMID:34446728
A Genome-Wide Association Study on Liver Stiffness Changes during Hepatitis C Virus Infection Cure. PMID:34441435
Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus. PMID:34440442
Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients. PMID:34440441
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3. PMID:34440431
Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability. PMID:34440402
Genome-Wide Association Study Using Whole-Genome Sequence Data for Fertility, Health Indicator, and Endoparasite Infection Traits in German Black Pied Cattle. PMID:34440337
agReg-SNPdb: A Database of Regulatory SNPs for Agricultural Animal Species. PMID:34440019
Shared Genetic Background between Parkinson's Disease and Schizophrenia: A Two-Sample Mendelian Randomization Study. PMID:34439661
MET Mutation Is a Potential Therapeutic Target for Advanced Endometrial Cancer. PMID:34439385
High-throughput screening and genome-wide analyses of 44 anticancer drugs in the 1000 Genomes cell lines reveals an association of the NQO1 gene with the response of multiple anticancer drugs. PMID:34437536
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer. PMID:34434896
Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort. PMID:34434164
A clinically applicable integrative molecular classification of meningiomas. PMID:34433969
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families. PMID:34433815
Predicting functional consequences of mutations using molecular interaction network features. PMID:34432150
A global map of associations between types of protein posttranslational modifications and human genetic diseases. PMID:34430807
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment. PMID:34429404
Multidimensional Approach Assessing the Role of Interleukin 1 Beta in Mesial Temporal Lobe Epilepsy. PMID:34421794
The MURAL collection of prostate cancer patient-derived xenografts enables discovery through preclinical models of uro-oncology. PMID:34413304
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. PMID:34413140
Delaying or delivering: identification of novel NAM-1 alleles that delay senescence to extend wheat grain fill duration. PMID:34405865
The ABCC4 gene is associated with pyometra in golden retriever dogs. PMID:34404837
Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping. PMID:34395068
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation. PMID:34393998
A novel compound heterozygous leptin receptor mutation causes more severe obesity than in Leprdb/db mice. PMID:34390703
Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records. PMID:34385667
Overcoming microenvironmental resistance to PD-1 blockade in genetically engineered lung cancer models. PMID:34380768
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. PMID:34379057
Bisection of the X chromosome disrupts the initiation of chromosome silencing during meiosis in Caenorhabditis elegans. PMID:34376665
Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays. PMID:34373545
A novel machine learning-based approach for the computational functional assessment of pharmacogenomic variants. PMID:34372920
Fifteen Years of the Australian Imaging, Biomarkers and Lifestyle (AIBL) Study: Progress and Observations from 2,359 Older Adults Spanning the Spectrum from Cognitive Normality to Alzheimer's Disease. PMID:34368630
Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia. PMID:34362951
Exploiting genomic synteny in Felidae: cross-species genome alignments and SNV discovery can aid conservation management. PMID:34362297
Single Nucleotide Polymorphism Induces Divergent Dynamic Patterns in CYP3A5: A Microsecond Scale Biomolecular Simulation of Variants Identified in Sub-Saharan African Populations. PMID:34360551
A proteogenomic portrait of lung squamous cell carcinoma. PMID:34358469
The CD155/TIGIT axis promotes and maintains immune evasion in neoantigen-expressing pancreatic cancer. PMID:34358448
Targeting mitotic exit in solid tumors. PMID:34354869
Genetic insights into biological mechanisms governing human ovarian ageing. PMID:34349265
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene. PMID:34347384
Interaction with the CCT chaperonin complex limits APOBEC3A cytidine deaminase cytotoxicity. PMID:34347354
The effects of genotype on inflammatory response in hippocampal progenitor cells: A computational approach. PMID:34345870
SorGSD: updating and expanding the sorghum genome science database with new contents and tools. PMID:34344425
Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. PMID:34341784
BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion. PMID:34337551
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB. PMID:34327855
Careful feature selection is key in classification of Alzheimer's disease patients based on whole-genome sequencing data. PMID:34327330
Detection of genomic regions associated malformations in newborn piglets: a machine-learning approach. PMID:34327051
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants. PMID:34326492
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets. PMID:34326338
The role of neutral and adaptive genomic variation in population diversification and speciation in two ground squirrel species of conservation concern. PMID:34324748
Profiling of hepatocellular carcinoma neoantigens reveals immune microenvironment and clonal evolution related patterns. PMID:34321833
Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants. PMID:34316407
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms. PMID:34315874
Multiethnic Prediction of Nicotine Biomarkers and Association With Nicotine Dependence. PMID:34313775
Recent ultra-rare inherited variants implicate new autism candidate risk genes. PMID:34312540
Watch Out for a Second SNP: Focus on Multi-Nucleotide Variants in Coding Regions and Rescued Stop-Gained. PMID:34306009
The clinical importance of tandem exon duplication-derived substitutions. PMID:34302486
G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19. PMID:34302047
Effect of the Electromagnetic Field (EMF) Radiation on Transcriptomic Profile of Pig Myometrium during the Peri-Implantation Period-An In Vitro Study. PMID:34298942
Genomic Analysis of Response to Neoadjuvant Chemotherapy in Esophageal Adenocarcinoma. PMID:34298611
Comparative Analysis of Mammal Genomes Unveils Key Genomic Variability for Human Life Span. PMID:34297086
Comparison of the oncogenomic landscape of canine and feline hemangiosarcoma shows novel parallels with human angiosarcoma. PMID:34296746
Hearing difficulty is linked to Alzheimer's disease by common genetic vulnerability, not shared genetic architecture. PMID:34294723
Impact of Tenascin-C on Radiotherapy in a Novel Syngeneic Oral Squamous Cell Carcinoma Model With Spontaneous Dissemination to the Lymph Nodes. PMID:34290694
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers. PMID:34285288
Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1. PMID:34277511
Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. PMID:34277001
The mutational profile of immune surveillance genes in diagnostic and refractory/relapsed DLBCLs. PMID:34275438
Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders. PMID:34274964
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases. PMID:34272616
Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals. PMID:34272381
Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models. PMID:34271981
Deploying new generation sequencing for the study of flesh color depletion in Atlantic Salmon (Salmo salar). PMID:34271869
Effective variant filtering and expected candidate variant yield in studies of rare human disease. PMID:34267211
Genome-Wide Detection of Structural Variations Reveals New Regions Associated with Domestication in Small Ruminants. PMID:34264322
RNA-Seq Data for Reliable SNP Detection and Genotype Calling: Interest for Coding Variant Characterization and Cis-Regulation Analysis by Allele-Specific Expression in Livestock Species. PMID:34262593
Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes. PMID:34261756
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse. PMID:34255152
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases. PMID:34253785
The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank. PMID:34253731
Repeated evolution of circadian clock dysregulation in cavefish populations. PMID:34252077
Synchronous, Yet Genomically Distinct, GIST Offer New Insights Into Precise Targeting of Tumor Driver Mutations. PMID:34250403
South African Buffalo-Derived Theileria parva Is Distinct From Other Buffalo and Cattle-Derived T. parva. PMID:34249088
Genomic analyses of high-grade neuroendocrine gynecological malignancies reveal a unique mutational landscape and therapeutic vulnerabilities. PMID:34245124
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability. PMID:34244600
Genetic Analysis of Functional Rare Germline Variants across Nine Cancer Types from an Electronic Health Record Linked Biobank. PMID:34244158
Mapping the human genetic architecture of COVID-19. PMID:34237774
Novel Gene Mutations Regulating Immune Responses in Autoimmune Polyglandular Syndrome With an Atypical Course. PMID:34235359
The first insight into the genetic structure of the population of modern Serbia. PMID:34234178
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health. PMID:34234147
Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. PMID:34230933
Oncogenic cooperation between TCF7-SPI1 and NRAS(G12D) requires β-catenin activity to drive T-cell acute lymphoblastic leukemia. PMID:34230493
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata. PMID:34229749
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses. PMID:34226706
Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants. PMID:34220960
Pooled Sequencing Analysis of Geese (Anser cygnoides) Reveals Genomic Variations Associated With Feather Color. PMID:34220935
Admixture mapping reveals the association between Native American ancestry at 3q13.11 and reduced risk of Alzheimer's disease in Caribbean Hispanics. PMID:34217363
Targeted long-read sequencing identifies missing disease-causing variation. PMID:34216551
Identification of novel and rare variants associated with handgrip strength using whole genome sequence data from the NHLBI Trans-Omics in Precision Medicine (TOPMed) Program. PMID:34214102
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy. PMID:34211429
UVB mutagenesis differs in Nras- and Braf-mutant mouse models of melanoma. PMID:34210801
Deleterious Mutations in the TPO Gene Associated with Familial Thyroid Follicular Cell Carcinoma in Dutch German Longhaired Pointers. PMID:34209805
CD74 and CD44 Expression on CTCs in Cancer Patients with Brain Metastasis. PMID:34209696
Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel. PMID:34207827
Single Nucleotide Polymorphisms in Genes Encoding Toll-Like Receptors 7 and 8 and Their Association with Proviral Load of SRLVs in Goats of Polish Carpathian Breed. PMID:34206971
Identifying Cancer Drivers Using DRIVE: A Feature-Based Machine Learning Model for a Pan-Cancer Assessment of Somatic Missense Mutations. PMID:34205004
Bioinformatics Accelerates the Major Tetrad: A Real Boost for the Pharmaceutical Industry. PMID:34201152
Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum. PMID:34193236
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. PMID:34188062
A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion. PMID:34183069
Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population. PMID:34178030
Immunogenomic profiling and pathological response results from a clinical trial of docetaxel and carboplatin in triple-negative breast cancer. PMID:34173924
The AML microenvironment catalyzes a stepwise evolution to gilteritinib resistance. PMID:34171263
Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8. PMID:34171097
DIVIS: Integrated and Customizable Pipeline for Cancer Genome Sequencing Analysis and Interpretation. PMID:34168993
Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease. PMID:34152079
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia. PMID:34149817
Establishment and characterization of immortalized human breast cancer cell lines from breast cancer patient-derived xenografts (PDX). PMID:34145270
Genome Scan for Variable Genes Involved in Environmental Adaptations of Nubian Ibex. PMID:34142199
Prioritizing the Role of Major Lipoproteins and Subfractions as Risk Factors for Peripheral Artery Disease. PMID:34139859
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome. PMID:34125832
High-Throughput Imaging Assay for Drug Screening of 3D Prostate Cancer Organoids. PMID:34111999
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. PMID:34108472
Genome-wide association analysis of adaptation to oxygen stress in Nile tilapia (Oreochromis niloticus). PMID:34107887
Genome wide study of tardive dyskinesia in schizophrenia. PMID:34103471
Systems genetics in diversity outbred mice inform BMD GWAS and identify determinants of bone strength. PMID:34099702
Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs. PMID:34099641
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences. PMID:34099068
CRISPR/Cas9-mediated correction of MITF homozygous point mutation in a Waardenburg syndrome 2A pig model. PMID:34094716
Transcriptome-Wide Identification of G-to-A RNA Editing in Chronic Social Defeat Stress Mouse Models. PMID:34093668
Genome-wide association study on blood pressure traits in the Iranian population suggests ZBED9 as a new locus for hypertension. PMID:34083597
Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia. PMID:34079577
Eleven genomic loci affect plasma levels of chronic inflammation marker soluble urokinase-type plasminogen activator receptor. PMID:34079037
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. PMID:34075210
High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer. PMID:34074070
Prognostic Genetic Biomarkers Based on Oncogenic Signaling Pathways for Outcome Prediction in Patients with Oral Cavity Squamous Cell Carcinoma. PMID:34070941
Genotype and Trait Specific Responses to Rapamycin Intake in Drosophila melanogaster. PMID:34065203
An in vitro model of tumor heterogeneity resolves genetic, epigenetic, and stochastic sources of cell state variability. PMID:34061819
Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies. PMID:34055682
Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population. PMID:34054913
MTR3D: identifying regions within protein tertiary structures under purifying selection. PMID:34050760
Towards population-scale long-read sequencing. PMID:34050336
snpXplorer: a web application to explore human SNP-associations and annotate SNP-sets. PMID:34048563
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys. PMID:34047840
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. PMID:34046667
Assessing the functional relevance of splice isoforms. PMID:34046593
Natural variants suppress mutations in hundreds of essential genes. PMID:34042294
Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia. PMID:34037856
Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis. PMID:34037083
Impact of a 40-Gene Targeted Panel Test on Physician Decision Making for Patients With Acute Myeloid Leukemia. PMID:34036230
Infant inhibited temperament in primates predicts adult behavior, is heritable, and is associated with anxiety-relevant genetic variation. PMID:34035480
Whole-Exome Sequencing of Radiation-Induced Thymic Lymphoma in Mouse Models Identifies Notch1 Activation as a Driver of p53 Wild-Type Lymphoma. PMID:34035082
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses. PMID:34034819
Anti-PD-1 in Combination With Trametinib Suppresses Tumor Growth and Improves Survival of Intrahepatic Cholangiocarcinoma in Mice. PMID:34033968
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs. PMID:34033851
Predicting MHC I restricted T cell epitopes in mice with NAP-CNB, a novel online tool. PMID:34031450
Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics. PMID:34031426
Rare Missense Functional Variants at COL4A1 and COL4A2 in Sporadic Intracerebral Hemorrhage. PMID:34031201
Standing genetic variation in laboratory populations of insecticide-susceptible Phlebotomus papatasi and Lutzomyia longipalpis (Diptera: Psychodidae: Phlebotominae) for the evolution of resistance. PMID:34025765
Combination of Immunotherapy and Radiotherapy for Recurrent Malignant Gliomas: Results From a Prospective Study. PMID:34025640
Causal effect of alcohol use on the risk of end-stage kidney disease and related comorbidities: a Mendelian randomization study. PMID:34024088
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. PMID:34022131
Genetic Origins and Sex-Biased Admixture of the Huis. PMID:34021754
Characterizing the molecular and immune landscape of canine bladder cancer. PMID:34021685
GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer. PMID:34021172
Chemically defined and xeno-free culture condition for human extended pluripotent stem cells. PMID:34021145
Unique evolutionary trajectories of breast cancers with distinct genomic and spatial heterogeneity. PMID:34011996
Investigating the impact of reference assembly choice on genomic analyses in a cattle breed. PMID:34011274
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders. PMID:34009545
Bintrafusp Alfa, a Bifunctional Fusion Protein Targeting TGF-β and PD-L1, in Patients with Esophageal Adenocarcinoma: Results from a Phase 1 Cohort. PMID:34009501
Targeted RNA-seq improves efficiency, resolution, and accuracy of allele specific expression for human term placentas. PMID:34009305
Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries. PMID:34005834
Reproductive history determines Erbb2 locus amplification, WNT signalling and tumour phenotype in a murine breast cancer model. PMID:34003256
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. PMID:33999436
Accessing Livestock Resources in Ensembl. PMID:33995484
A genetic screen for regulators of muscle morphogenesis in Drosophila. PMID:33993253
Plasma Metabolomic Signatures of Chronic Obstructive Pulmonary Disease and the Impact of Genetic Variants on Phenotype-Driven Modules. PMID:33987620
Whole-exome sequencing identifies somatic mutations associated with lung cancer metastasis to the brain. PMID:33987392
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy. PMID:33977028
Identification of missense MAB21L1 variants in microphthalmia and aniridia. PMID:33973683
Novel functional sequences uncovered through a bovine multiassembly graph. PMID:33972446
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. PMID:33971972
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells. PMID:33970190
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. PMID:33963445
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing. PMID:33960727
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype. PMID:33960642
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource. PMID:33960523
CDX2 expression in the hematopoietic lineage promotes leukemogenesis via TGFβ inhibition. PMID:33960108
Limited haplotype diversity underlies polygenic trait architecture across 70 years of wheat breeding. PMID:33957956
Systematic interrogation of mutation groupings reveals divergent downstream expression programs within key cancer genes. PMID:33957863
A natural knockout of the MYO7A gene leads to pre-weaning mortality in pigs. PMID:33955556
Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes. PMID:33945534
A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study. PMID:33941792
Single nucleotide polymorphism array-based signature of low hypodiploidy in acute lymphoblastic leukemia. PMID:33938069
Predicting Ovarian/Breast Cancer Pathogenic Risks of Human BRCA1 Gene Variants of Unknown Significance. PMID:33937409
An Integrated Genomic, Proteomic, and Immunopeptidomic Approach to Discover Treatment-Induced Neoantigens. PMID:33936100
Disparities in COVID-19 severities and casualties across ethnic groups around the globe and patterns of ACE2 and PIR variants. PMID:33933634
Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects. PMID:33925651
Comorbidities and Susceptibility to COVID-19: A Generalized Gene Set Data Mining Approach. PMID:33924631
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases. PMID:33924034
TILLING-by-Sequencing+ to Decipher Oil Biosynthesis Pathway in Soybeans: A New and Effective Platform for High-Throughput Gene Functional Analysis. PMID:33921707
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing. PMID:33921338
Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family. PMID:33920896
Evolutionary Trajectories and Genomic Divergence in Localized Breast Cancers after Ipsilateral Breast Tumor Recurrence. PMID:33920370
Genetic Analysis Reveals Rare Variants in T-Cell Response Gene MR1 Associated with Poor Overall Survival after Urothelial Cancer Diagnosis. PMID:33919687
Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers. PMID:33919281
Genetic Regulation of Biomarkers as Stress Proxies in Dairy Cows. PMID:33917627
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development. PMID:33917078
Variants at the ASIP locus contribute to coat color darkening in Nellore cattle. PMID:33910501
Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants. PMID:33909605
Molecular Parallelism Underlies Convergent Highland Adaptation of Maize Landraces. PMID:33905497
Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus. PMID:33902942
The Clinical Implications of Tumor Mutational Burden in Osteosarcoma. PMID:33898301
Heterogeneity of a dwarf phenotype in Dutch traditional chicken breeds revealed by genomic analyses. PMID:33897823
Investigation of Association of Rare, Functional Genetic Variants With Heavy Drinking and Problem Drinking in Exome Sequenced UK Biobank Participants. PMID:33893496
Genomic profile of advanced breast cancer in circulating tumour DNA. PMID:33893289
Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer. PMID:33893148
A worldwide map of swine short tandem repeats and their associations with evolutionary and environmental adaptations. PMID:33892623
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer. PMID:33889545
Characterization of a haplotype-reference panel for genotyping by low-pass sequencing in Swiss Large White pigs. PMID:33882824
Genetics of HLA Peptide Presentation and Impact on Outcomes in HLA-Matched Allogeneic Hematopoietic Cell Transplantation. PMID:33882342
Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. PMID:33875422
Systematic identification of A-to-I RNA editing in zebrafish development and adult organs. PMID:33872356
The copy number variation and stroke (CaNVAS) risk and outcome study. PMID:33872305
Inferring Adaptive Codon Preference to Understand Sources of Selection Shaping Codon Usage Bias. PMID:33871580
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity. PMID:33863983
Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits. PMID:33863921
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. PMID:33863784
A pan-cancer transcriptome analysis of exitron splicing identifies novel cancer driver genes and neoepitopes. PMID:33861991
Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction. PMID:33859969
The mode of expression divergence in Drosophila fat body is infection-specific. PMID:33858842
Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer. PMID:33854152
Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application. PMID:33850640
Tissue-specific cell-free DNA degradation quantifies circulating tumor DNA burden. PMID:33850132
Identifying therapeutic drug targets using bidirectional effect genes. PMID:33850126
Phase II Multicenter Study of Enzalutamide in Metastatic Castration-Resistant Prostate Cancer to Identify Mechanisms Driving Resistance. PMID:33849963
Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2. PMID:33846513
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders. PMID:33841501
Bintrafusp Alfa, a Bifunctional Fusion Protein Targeting TGFβ and PD-L1, in Patients with Esophageal Squamous Cell Carcinoma: Results from a Phase 1 Cohort in Asia. PMID:33840050
Reprogramming enriches for somatic cell clones with small-scale mutations in cancer-associated genes. PMID:33831558
The role of a mechanistic host in maintaining arctic rabies variant distributions: Assessment of functional genetic diversity in Alaskan red fox (Vulpes vulpes). PMID:33831031
Genome-wide enhancer maps link risk variants to disease genes. PMID:33828297
Genetic variability in COVID-19-related genes in the Brazilian population. PMID:33824725
Common genetic variants and pathways in diabetes and associated complications and vulnerability of populations with different ethnic origins. PMID:33820928
Genome-Wide Association Identifies Risk Pathways for SAPHO Syndrome. PMID:33816493
Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg. PMID:33815474
Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer. PMID:33811746
Detection of loci exhibiting pleiotropic effects on body weight and egg number in female broilers. PMID:33811218
Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms. PMID:33809641
Multivariate Analysis Identifies Eight Novel Loci Associated with Meat Productivity Traits in Sheep. PMID:33806625
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia. PMID:33804237
Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report. PMID:33803538
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. PMID:33798445
Muscle allele-specific expression QTLs may affect meat quality traits in Bos indicus. PMID:33795794
A novel age-informed approach for genetic association analysis in Alzheimer's disease. PMID:33794991
A domestic cat whole exome sequencing resource for trait discovery. PMID:33785770
Model-based assessment of replicability for genome-wide association meta-analysis. PMID:33785739
Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population. PMID:33784962
Demographic History, Adaptation, and NRAP Convergent Evolution at Amino Acid Residue 100 in the World Northernmost Cattle from Siberia. PMID:33784744
How array design creates SNP ascertainment bias. PMID:33784304
Comprehensive comparative genomic and microsatellite analysis of SARS, MERS, BAT-SARS, and COVID-19 coronaviruses. PMID:33782990
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. PMID:33782605
A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans. PMID:33781384
Loss of TANGO1 Leads to Absence of Bone Mineralization. PMID:33778321
OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations. PMID:33771218
Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations. PMID:33767731
Inborn errors of immunity-recent advances in research on the pathogenesis. PMID:33766139
In silico candidate variant and gene identification using inbred mouse strains. PMID:33763305
Genome-wide association study of psychiatric and substance use comorbidity in Mexican individuals. PMID:33762635
Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle. PMID:33758295
Identification of resistance loci against new pathotypes of Plasmodiophora brassicae in Brassica napus based on genome-wide association mapping. PMID:33758222
R-locus for roaned coat is associated with a tandem duplication in an intronic region of USH2A in dogs and also contributes to Dalmatian spotting. PMID:33755696
A first-generation pediatric cancer dependency map. PMID:33753930
Triple-negative breast lobular carcinoma: a luminal androgen receptor carcinoma with specific ESRRA mutations. PMID:33753865
Variants in ACE2 and TMPRSS2 Genes Are Not Major Determinants of COVID-19 Severity in UK Biobank Subjects. PMID:33752217
Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes. PMID:33751038
A drought-responsive rice amidohydrolase is the elusive plant guanine deaminase with the potential to modulate the epigenome. PMID:33749847
Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases. PMID:33747049
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation. PMID:33743207
Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank. PMID:33742053
Mutational profiles of marker genes of cervical carcinoma in Bangladeshi patients. PMID:33736612
Global proteomic analysis of extracellular matrix in mouse and human brain highlights relevance to cerebrovascular disease. PMID:33730931
High mutation burden in the checkpoint and micro-RNA processing genes in myelodysplastic syndrome. PMID:33730109
Gene variants of coagulation related proteins that interact with SARS-CoV-2. PMID:33730015
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates. PMID:33727708
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. PMID:33726816
Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing. PMID:33724408
Atypical Genetic Basis of Pyrazinamide Resistance in Monoresistant Mycobacterium tuberculosis. PMID:33722890
The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm. PMID:33713133
NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants. PMID:33712516
Imputation accuracy to whole-genome sequence in Nellore cattle. PMID:33711929
Short loop functional commonality identified in leukaemia proteome highlights crucial protein sub-networks. PMID:33709075
The Global Landscape of SARS-CoV-2 Genomes, Variants, and Haplotypes in 2019nCoVR. PMID:33704069
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. PMID:33692100
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome. PMID:33689014
New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples. PMID:33679884
Identifying Primate ACE2 Variants That Confer Resistance to SARS-CoV-2. PMID:33674876
Molecular disruption of DNA polymerase β for platinum sensitisation and synthetic lethality in epithelial ovarian cancers. PMID:33674744
Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa. PMID:33671757
Sarcoptic mange severity is associated with reduced genomic variation and evidence of selection in Yellowstone National Park wolves (Canis lupus). PMID:33664786
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center. PMID:33663443
Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait. PMID:33659027
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. PMID:33649541
Host Genome-Wide Association Study of Infant Susceptibility to Shigella-Associated Diarrhea. PMID:33649051
Molecular characterization of DICER1-mutated pituitary blastoma. PMID:33644822
A-to-I RNA Editing in Cancer: From Evaluating the Editing Level to Exploring the Editing Effects. PMID:33643923
A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant. PMID:33633220
Relevance of PD-L1 Non-Coding Polymorphisms on the Prognosis of a Genetically Admixed NSCLC Cohort. PMID:33623414
Uniform genomic data analysis in the NCI Genomic Data Commons. PMID:33619257
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. PMID:33618777
Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML. PMID:33608312
Genetic Effects on Transcriptome Profiles in Colon Epithelium Provide Functional Insights for Genetic Risk Loci. PMID:33601062
From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration. PMID:33599394
Million-year-old DNA sheds light on the genomic history of mammoths. PMID:33597750
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing. PMID:33597727
Investigation of allele specific expression in various tissues of broiler chickens using the detection tool VADT. PMID:33597613
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. PMID:33597508
CIITA-Transduced Glioblastoma Cells Uncover a Rich Repertoire of Clinically Relevant Tumor-Associated HLA-II Antigens. PMID:33592498
Chromosome 8 gain is associated with high-grade transformation in MPNST. PMID:33591953
Twelve years of SAMtools and BCFtools. PMID:33590861
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes. PMID:33589840
Recent Consanguinity and Outbred Autozygosity Are Associated With Increased Risk of Late-Onset Alzheimer's Disease. PMID:33584820
Compositional Variability and Mutation Spectra of Monophyletic SARS-CoV-2 Clades. PMID:33581339
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. PMID:33575671
A fully integrated machine learning scan of selection in the chimpanzee genome. PMID:33575612
Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs. PMID:33572573
A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways. PMID:33571195
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. PMID:33568819
Molecular medicine tumor board: whole-genome sequencing to inform on personalized medicine for a man with advanced prostate cancer. PMID:33568750
Describing variability in pig genes involved in coronavirus infections for a One Health perspective in conservation of animal genetic resources. PMID:33564056
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder. PMID:33563892
Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families. PMID:33562221
Gv1, a Zinc Finger Gene Controlling Endogenous MLV Expression. PMID:33560369
Replication of HLA class II locus association with susceptibility to podoconiosis in three Ethiopian ethnic groups. PMID:33558538
Genome-wide fine-mapping identifies pleiotropic and functional variants that predict many traits across global cattle populations. PMID:33558518
Integrative Genomic-Epigenomic Analysis of Clozapine-Treated Patients with Refractory Psychosis. PMID:33557049
The uracil-DNA glycosylase UNG protects the fitness of normal and cancer B cells expressing AID. PMID:33554121
Practical prediction model of the clinical response to programmed death-ligand 1 inhibitors in advanced gastric cancer. PMID:33547412
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma. PMID:33547292
The Genetics of Sudden Infant Death Syndrome-Towards a Gene Reference Resource. PMID:33540853
Unravelling the Sequential Interplay of Mutational Mechanisms during Clonal Evolution in Relapsed Pediatric Acute Lymphoblastic Leukemia. PMID:33540666
A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits. PMID:33536417
Loss of Cnot6l Impairs Inosine RNA Modifications in Mouse Oocytes. PMID:33530472
The mutational load in natural populations is significantly affected by high primary rates of retroposition. PMID:33526666
Hierarchical Modelling of Haplotype Effects on a Phylogeny. PMID:33519886
A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer. PMID:33517887
Genes and SNPs Involved with Scrotal and Umbilical Hernia in Pigs. PMID:33513662
Gene-based association analysis identifies 190 genes affecting neuroticism. PMID:33510330
Antitumor T-cell Immunity Contributes to Pancreatic Cancer Immune Resistance. PMID:33509790
Evaluation of genetic structure in European wheat cultivars and advanced breeding lines using high-density genotyping-by-sequencing approach. PMID:33509072
The contribution of X-linked coding variation to severe developmental disorders. PMID:33504798
Whole-Genome Sequence Data Suggest Environmental Adaptation of Ethiopian Sheep Populations. PMID:33501931
Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange. PMID:33500538
In Silico Inference of Synthetic Cytotoxic Interactions from Paclitaxel Responses. PMID:33499282
Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency. PMID:33496735
Detection of aberrant splicing events in RNA-seq data using FRASER. PMID:33483494
A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth. PMID:33482199
A platform for curated products from novel open reading frames prompts reinterpretation of disease variants. PMID:33468550
Detection of aberrant gene expression events in RNA sequencing data. PMID:33462443
GATA3 somatic mutations are associated with clinicopathological features and expression profile in TCGA breast cancer patients. PMID:33462316
Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits. PMID:33461502
Risk prediction and marker selection in nonsynonymous single nucleotide polymorphisms using whole genome sequencing data. PMID:33456716
SARS-CoV-2 infection susceptibility influenced by ACE2 genetic polymorphisms: insights from Tehran Cardio-Metabolic Genetic Study. PMID:33452303
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. PMID:33452270
Extension of SKAT to multi-category phenotypes through a geometrical interpretation. PMID:33446828
Whole genome sequencing of 10K patients with acute ischaemic stroke or transient ischaemic attack: design, methods and baseline patient characteristics. PMID:33443231
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection. PMID:33441574
Quantitative analysis of the splice variants expressed by the major hepatitis B virus genotypes. PMID:33439114
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study. PMID:33436325
Clinicopathological and Functional Evaluation Reveal NBS1 as a Predictor of Platinum Resistance in Epithelial Ovarian Cancers. PMID:33435622
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint. PMID:33434514
Large mosaic copy number variations confer autism risk. PMID:33432194
Ultraviolet radiation drives mutations in a subset of mucosal melanomas. PMID:33431815
Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics. PMID:33420026
Genomic Landscapes of Acral Melanomas in East Asia. PMID:33419898
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia. PMID:33418990
Combination of tissue and liquid biopsy molecular profiling to detect transformation to small cell lung carcinoma during osimertinib treatment. PMID:33414847
Transcriptome of nasopharyngeal samples from COVID-19 patients and a comparative analysis with other SARS-CoV-2 infection models reveal disparate host responses against SARS-CoV-2. PMID:33413422
A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs. PMID:33413103
A pan-cancer atlas of somatic mutations in miRNA biogenesis genes. PMID:33406242
Comparative genomic analysis of primary tumors and paired brain metastases in lung cancer patients by whole exome sequencing: a pilot study. PMID:33400739
Accurate, scalable cohort variant calls using DeepVariant and GLnexus. PMID:33399819
Aberrant splicing isoforms detected by full-length transcriptome sequencing as transcripts of potential neoantigens in non-small cell lung cancer. PMID:33397462
Computational Analysis of SARS-CoV-2 and SARS-Like Coronavirus Diversity in Human, Bat and Pangolin Populations. PMID:33396801
Sequential fate-switches in stem-like cells drive the tumorigenic trajectory from human neural stem cells to malignant glioma. PMID:33390587
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. PMID:33383211
Whole-genome resequencing using genomic DNA extracted from horsehair roots for gene-doping control in horse sports. PMID:33376443
Aberrant Splicing in GJB1 and the Relevance of 5' UTR in CMTX1 Pathogenesis. PMID:33375465
fshr: a fish sex-determining locus shows variable incomplete penetrance across flathead grey mullet populations. PMID:33354664
Mendelian Randomization Study on Amino Acid Metabolism Suggests Tyrosine as Causal Trait for Type 2 Diabetes. PMID:33352682
Genome-wide Association Studies Reveal Novel Locus With Sex-/Therapy-Specific Fracture Risk Effects in Childhood Cancer Survivors. PMID:33338273
Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza. PMID:33335158
Single cell analysis reveals distinct immune landscapes in transplant and primary sarcomas that determine response or resistance to immunotherapy. PMID:33335088
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. PMID:33335035
Genetic architecture of host proteins involved in SARS-CoV-2 infection. PMID:33328453
Cross-Site Concordance Evaluation of Tumor DNA and RNA Sequencing Platforms for the CIMAC-CIDC Network. PMID:33323402
Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data. PMID:33313134
Deep learning-based cross-classifications reveal conserved spatial behaviors within tumor histological images. PMID:33311458
ATP13A3 is a major component of the enigmatic mammalian polyamine transport system. PMID:33310703
The impact of post-alignment processing procedures on whole-exome sequencing data. PMID:33306778
Whole-genome sequencing analysis of the cardiometabolic proteome. PMID:33303764
A flexible computational pipeline for research analyses of unsolved clinical exome cases. PMID:33303739
Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility. PMID:33298875
Dysbiotic Lesional Microbiome With Filaggrin Missense Variants Associate With Atopic Dermatitis in India. PMID:33282748
The Needle in the Haystack-Searching for Genetic and Epigenetic Differences in Monozygotic Twins Discordant for Tetralogy of Fallot. PMID:33276527
Flype: Software for enabling personalized medicine. PMID:33270363
SITC cancer immunotherapy resource document: a compass in the land of biomarker discovery. PMID:33268350
Genome-Wide Analysis of Nubian Ibex Reveals Candidate Positively Selected Genes That Contribute to Its Adaptation to the Desert Environment. PMID:33266380
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias. PMID:33263113
Comprehensive analysis of cutaneous and uveal melanoma liver metastases. PMID:33262254
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. PMID:33261662
Finding a suitable library size to call variants in RNA-Seq. PMID:33261552
Genomic and transcriptomic alterations associated with drug vulnerabilities and prognosis in adenocarcinoma at the gastroesophageal junction. PMID:33257699
Targeted Sequencing of Pancreatic Adenocarcinomas from Patients with Metachronous Pulmonary Metastases. PMID:33255265
Predicting changes in protein thermodynamic stability upon point mutation with deep 3D convolutional neural networks. PMID:33253214
The Population-Specific Impact of Neandertal Introgression on Human Disease. PMID:33247712
ProTECT-Prediction of T-Cell Epitopes for Cancer Therapy. PMID:33244314
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort. PMID:33244021
The genetic landscape of crystallins in congenital cataract. PMID:33243271
Clinicopathological and Molecular Profiles of Sporadic Microsatellite Unstable Colorectal Cancer with or without the CpG Island Methylator Phenotype (CIMP). PMID:33238621
Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population. PMID:33237934
Pharmacogenetics at Scale: An Analysis of the UK Biobank. PMID:33237584
COVID-19 research risks ignoring important host genes due to pre-established research patterns. PMID:33231169
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants. PMID:33230308
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. PMID:33230300
Genome-wide association study identifies 16 genomic regions associated with circulating cytokines at birth. PMID:33227023
The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer. PMID:33222100
Transient expansion of TP53 mutated clones in polycythemia vera patients treated with idasanutlin. PMID:33216890
A genome-wide scan study identifies a single nucleotide substitution in MC1R gene associated with white coat colour in fallow deer (Dama dama). PMID:33213385
Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy. PMID:33212010
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. PMID:33211200
Ex vivo culture of circulating tumour cells derived from non-small cell lung cancer. PMID:33209602
Data integration for prediction of weight loss in randomized controlled dietary trials. PMID:33208769
DNA sequencing of anatomy lab cadavers to provide hands-on precision medicine introduction to medical students. PMID:33198737
Mitochondrial DNA Mutation Analysis in Breast Cancer: Shifting From Germline Heteroplasmy Toward Homoplasmy in Tumors. PMID:33194675
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings. PMID:33193738
Integrative Network Analysis of Predicted miRNA-Targets Regulating Expression of Immune Response Genes in Bovine Coronavirus Infection. PMID:33193717
Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome. PMID:33193692
Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance. PMID:33193618
Integrating Genetic and Genomic Analyses of Combined Health Data Across Ecotypes to Improve Disease Resistance in Indigenous African Chickens. PMID:33193617
GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline. PMID:33193602
Candidate Gene Analysis Reveals Strong Association of CETP Variants With High Density Lipoprotein Cholesterol and PCSK9 Variants With Low Density Lipoprotein Cholesterol in Ghanaian Adults: An AWI-Gen Sub-Study. PMID:33193594
Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report. PMID:33187473
Exploring the Role of Contactins across Psychological, Psychiatric and Cardiometabolic Traits within UK Biobank. PMID:33182605
A yeast living ancestor reveals the origin of genomic introgressions. PMID:33177709
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy. PMID:33175337
Genomic profile of MYCN non-amplified neuroblastoma and potential for immunotherapeutic strategies in neuroblastoma. PMID:33172452
Gramene 2021: harnessing the power of comparative genomics and pathways for plant research. PMID:33170273
Genome Variation Map: a worldwide collection of genome variations across multiple species. PMID:33170268
The Zebrafish Information Network: major gene page and home page updates. PMID:33170210
Molecular variation among virulent and avirulent strains of the quarantine nematode Bursaphelenchus xylophilus. PMID:33169231
MobiDetails: online DNA variants interpretation. PMID:33161418
An evaluation of inbreeding measures using a whole-genome sequenced cattle pedigree. PMID:33159183
Neoantigen prediction in human breast cancer using RNA sequencing data. PMID:33155341
Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data. PMID:33154511
Mapping the genetic basis of diabetes mellitus in the Australian Burmese cat (Felis catus). PMID:33154479
Genomic Architecture of Rapid Parallel Adaptation to Fresh Water in a Wild Fish. PMID:33146383
Phenotype prediction and characterization of 25 pharmacogenes in Thais from whole genome sequencing for clinical implementation. PMID:33144648
Role of specialized composition of SWI/SNF complexes in prostate cancer lineage plasticity. PMID:33144576
Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors. PMID:33144287
Therapeutic Efficacy of GC1118, a Novel Anti-EGFR Antibody, against Glioblastoma with High EGFR Amplification in Patient-Derived Xenografts. PMID:33142709
Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients. PMID:33138793
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline. PMID:33137338
Ensembl 2021. PMID:33137190
Transfer learning enables prediction of CYP2D6 haplotype function. PMID:33137098
Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR. PMID:33134778
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. PMID:33131181
Neoantimon: a multifunctional R package for identification of tumor-specific neoantigens. PMID:33123738
Genetic parameters and associated genomic regions for global immunocompetence and other health-related traits in pigs. PMID:33116177
Integrated genomic and transcriptomic analysis revealed mutation patterns of de-differentiated liposarcoma and leiomyosarcoma. PMID:33115433
Epigenetic Mechanisms Contribute to Evolutionary Adaptation of Gene Network Activity under Environmental Selection. PMID:33113358
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients. PMID:33113089
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort. PMID:33110626
Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma. PMID:33110059
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player. PMID:33108537
Phase 2 study of ruxolitinib and decitabine in patients with myeloproliferative neoplasm in accelerated and blast phase. PMID:33104796
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. PMID:33098347
The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study. PMID:33097823
Slow Growth and Increased Spontaneous Mutation Frequency in Respiratory Deficient afo1 - Yeast Suppressed by a Dominant Mutation in ATP3. PMID:33093184
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism. PMID:33090996
Reference exome data for a Northern Brazilian population. PMID:33087711
Gene expression variability in human and chimpanzee populations share common determinants. PMID:33084571
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients. PMID:33077847
Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity. PMID:33067454
A natural variant of the essential host gene MMS21 restricts the parasitic 2-micron plasmid in Saccharomyces cerevisiae. PMID:33063663
Ultrafast and scalable variant annotation and prioritization with big functional genomics data. PMID:33060171
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome. PMID:33060134
Programmable C-to-U RNA editing using the human APOBEC3A deaminase. PMID:33058229
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. PMID:33057200
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants. PMID:33057025
The support of genetic evidence for cardiovascular risk induced by antineoplastic drugs. PMID:33055159
Genomic and transcriptional analysis of genes containing fibrinogen and IgSF domains in the schistosome vector Biomphalaria glabrata, with emphasis on the differential responses of snails susceptible or resistant to Schistosoma mansoni. PMID:33052953
PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS. PMID:33051675
SWATH-MS based proteomic profiling of pancreatic ductal adenocarcinoma tumours reveals the interplay between the extracellular matrix and related intracellular pathways. PMID:33048956
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. PMID:33048444
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. PMID:33046911
A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle. PMID:33046754
An online coronavirus analysis platform from the National Genomics Data Center. PMID:33045776
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. PMID:33045747
Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing. PMID:33042626
Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing. PMID:33033274
Generating realistic null hypothesis of cancer mutational landscapes using SigProfilerSimulator. PMID:33028213
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. PMID:33025139
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. PMID:33004838
Confirmed effects of candidate variants for milk production, udder health, and udder morphology in dairy cattle. PMID:32998688
Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment. PMID:32996353
CSVS, a crowdsourcing database of the Spanish population genetic variability. PMID:32990755
Venetoclax Plus Rituximab in Relapsed Chronic Lymphocytic Leukemia: 4-Year Results and Evaluation of Impact of Genomic Complexity and Gene Mutations From the MURANO Phase III Study. PMID:32986498
Genome analysis of American minks reveals link of mutations in Ras-related protein-38 gene to Moyle brown coat phenotype. PMID:32985525
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing. PMID:32985468
Telomere Maintenance Associated Mutations in the Genetic Landscape of Gynecological Mucosal Melanoma. PMID:32984050
Mucinous Adenocarcinoma of the Rectum: A Whole Genome Sequencing Study. PMID:32984045
Genomic Characteristics and Selection Signatures in Indigenous Chongming White Goat (Capra hircus). PMID:32973871
Independent evolution of cutaneous lymphoma subclones in different microenvironments of the skin. PMID:32968137
Risk prediction of late-onset Alzheimer's disease implies an oligogenic architecture. PMID:32968074
Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women. PMID:32966694
Prioritizing sequence variants in conserved non-coding elements in the chicken genome using chCADD. PMID:32966296
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. PMID:32963807
VAV2 signaling promotes regenerative proliferation in both cutaneous and head and neck squamous cell carcinoma. PMID:32963234
Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing. PMID:32962098
Extensive germline genome engineering in pigs. PMID:32958897
Whole genome analysis of water buffalo and global cattle breeds highlights convergent signatures of domestication. PMID:32958756
PTPRG is an ischemia risk locus essential for HCO3--dependent regulation of endothelial function and tissue perfusion. PMID:32955439
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India. PMID:32948948
An integrated personal and population-based Egyptian genome reference. PMID:32948767
TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema. PMID:32947856
Systematic analysis of bypass suppression of essential genes. PMID:32939983
Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat. PMID:32935881
Potential impact on coagulopathy of gene variants of coagulation related proteins that interact with SARS-CoV-2. PMID:32935103
Cancer-specific CTCF binding facilitates oncogenic transcriptional dysregulation. PMID:32933554
Whole-Exome Profiling of NSCLC Among African Americans. PMID:32931935
Evolutionary dynamics of neoantigens in growing tumors. PMID:32929288
The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy. PMID:32929178
Annotating high-impact 5'untranslated region variants with the UTRannotator. PMID:32926138
Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer. PMID:32923906
Identification of a neo-epitope dominating endogenous CD8 T cell responses to MC-38 colorectal cancer. PMID:32923109
Genome-wide detection of signatures of selection in indicine and Brazilian locally adapted taurine cattle breeds using whole-genome re-sequencing data. PMID:32917133
A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences. PMID:32915809
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. PMID:32911714
Epigenetic gene silencing by heterochromatin primes fungal resistance. PMID:32908306
Cytogenetically visible inversions are formed by multiple molecular mechanisms. PMID:32906200
Glucagon-like peptide-1 receptor and sarcoglycan delta genetic variants can affect cardiovascular risk in chronic kidney disease patients under hemodialysis. PMID:32905248
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population. PMID:32902719
Aneuploidy-induced proteotoxic stress can be effectively tolerated without dosage compensation, genetic mutations, or stress responses. PMID:32900371
Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases. PMID:32895551
A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs. PMID:32894063
Proteogenomic analysis of melanoma brain metastases from distinct anatomical sites identifies pathways of metastatic progression. PMID:32891176
The Polygenic and Monogenic Basis of Blood Traits and Diseases. PMID:32888494
A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. PMID:32887425
Towards personalized induction therapy for esophageal adenocarcinoma: organoids derived from endoscopic biopsy recapitulate the pre-treatment tumor. PMID:32884042
Antitumor activity of the dual BET and CBP/EP300 inhibitor NEO2734. PMID:32882003
The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories. PMID:32877505
The genomic landscape of Mongolian hepatocellular carcinoma. PMID:32873799
Whole genome sequencing analysis of high confidence variants of B-cell lymphoma in Canis familiaris. PMID:32857815
Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer. PMID:32853339
PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection. PMID:32847609
Assessing performance of pathogenicity predictors using clinically relevant variant datasets. PMID:32843488
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. PMID:32843070
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations. PMID:32831124
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data. PMID:32824926
Spontaneous mutations in the single TTN gene represent high tumor mutation burden. PMID:32821429
A method for scoring the cell type-specific impacts of noncoding variants in personal genomes. PMID:32817564
High genetic burden of type 2 diabetes can promote the high prevalence of disease: a longitudinal cohort study in Iran. PMID:32814780
Identification of strong candidate genes for backfat and intramuscular fatty acid composition in three crosses based on the Iberian pig. PMID:32811870
3D imaging of colorectal cancer organoids identifies responses to Tankyrase inhibitors. PMID:32810173
Weighted single-step genomic best linear unbiased prediction integrating variants selected from sequencing data by association and bioinformatics analyses. PMID:32799816
Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. PMID:32799607
Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia? PMID:32796235
Identification of Undetected Monogenic Cardiovascular Disorders. PMID:32792077
Interpretation of psychiatric genome-wide association studies with multispecies heterogeneous functional genomic data integration. PMID:32791514
Pre-Existing Tumoral B Cell Infiltration and Impaired Genome Maintenance Correlate with Response to Chemoradiotherapy in Locally Advanced Rectal Cancer. PMID:32784964
S-Adenosylmethionine Treatment of Colorectal Cancer Cell Lines Alters DNA Methylation, DNA Repair and Tumor Progression-Related Gene Expression. PMID:32784836
TERT Promoter Mutation as an Independent Prognostic Marker for Poor Prognosis MAPK Inhibitors-Treated Melanoma. PMID:32784823
Modeling the Diversity of Epithelial Ovarian Cancer through Ten Novel Well Characterized Cell Lines Covering Multiple Subtypes of the Disease. PMID:32784519
Genomic Analysis of Localized High-Risk Prostate Cancer Circulating Tumor Cells at the Single-Cell Level. PMID:32784507
RNA-Seq based genetic variant discovery provides new insights into controlling fat deposition in the tail of sheep. PMID:32782325
Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations. PMID:32778766
Population-scale proteome variation in human induced pluripotent stem cells. PMID:32773033
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer? PMID:32772980
Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk. PMID:32772081
Korean Genome Project: 1094 Korean personal genomes with clinical information. PMID:32766443
Rare or Overlooked? Structural Disruption of Regulatory Domains in Human Neurocristopathies. PMID:32765580
Host Genetic and Gut Microbial Signatures in Familial Inflammatory Bowel Disease. PMID:32764209
Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer. PMID:32761968
A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein. PMID:32760060
Rational discovery of molecular glue degraders via scalable chemical profiling. PMID:32747809
Heritable gene expression variability and stochasticity govern clonal heterogeneity in circadian period. PMID:32745129
The First Case of an Infant with Familial A20 Haploinsufficiency in Korea. PMID:32743991
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors. PMID:32738923
Distinct genetic architectures and environmental factors associate with host response to the γ2-herpesvirus infections. PMID:32737300
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants. PMID:32735577
Development and validation of Houston Methodist Variant Viewer version 3: updates to our application for interpretation of next-generation sequencing data. PMID:32734171
NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family. PMID:32733554
Desaturase Activity and the Risk of Type 2 Diabetes and Coronary Artery Disease: A Mendelian Randomization Study. PMID:32731631
Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases. PMID:32716492
Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci. PMID:32709900
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. PMID:32707087
Unique genomic and neoepitope landscapes across tumors: a study across time, tissues, and space within a single lynch syndrome patient. PMID:32699259
Clinical BRCA1/2 Reversion Analysis Identifies Hotspot Mutations and Predicted Neoantigens Associated with Therapy Resistance. PMID:32699032
Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians. PMID:32698834
Characterization of Driver Mutations in Anaplastic Thyroid Carcinoma Identifies RAS and PIK3CA Mutations as Negative Survival Predictors. PMID:32698386
Genome-wide association study for feed efficiency in collective cage-raised rabbits under full and restricted feeding. PMID:32697387
Genome-Wide Somatic Alterations in Multiple Myeloma Reveal a Superior Outcome Group. PMID:32687451
Genomic diversity revealed by whole-genome sequencing in three Danish commercial pig breeds. PMID:32687196
Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease. PMID:32687010
Identifying disease-causing mutations with privacy protection. PMID:32683440
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families. PMID:32682410
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. PMID:32681121
Cross-species oncogenic signatures of breast cancer in canine mammary tumors. PMID:32680987
Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach. PMID:32678143
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit. PMID:32668698
Children's rare disease cohorts: an integrative research and clinical genomics initiative. PMID:32655885
Personalised mapping of tumour development in synchronous colorectal cancer patients. PMID:32655884
Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research. PMID:32655481
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. PMID:32655138
The role of copy-number variation in the reinforcement of sexual isolation between the two European subspecies of the house mouse. PMID:32654648
Impact of diet and genes on murine autoimmune pancreatitis. PMID:32643288
Single-cell genomics reveals the genetic and molecular bases for escape from mutational epistasis in myeloid neoplasms. PMID:32640014
Genetic architecture of host proteins interacting with SARS-CoV-2. PMID:32637948
Meta-analysis for milk fat and protein percentage using imputed sequence variant genotypes in 94,321 cattle from eight cattle breeds. PMID:32635893
Genomic characteristics and drug screening among organoids derived from non-small cell lung cancer patients. PMID:32633046
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. PMID:32620954
Germline de novo mutation rates on exons versus introns in humans. PMID:32620809
Integrated pharmaco-proteogenomics defines two subgroups in isocitrate dehydrogenase wild-type glioblastoma with prognostic and therapeutic opportunities. PMID:32620753
Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens. PMID:32614437
Differential Gene Expression and Allele Frequency Changes Favour Adaptation of a Heterogeneous Yeast Population to Nitrogen-Limited Fermentations. PMID:32612585
Genetic Variation Bias toward Noncoding Regions and Secreted Proteins in the Rice Blast Fungus Magnaporthe oryzae. PMID:32606028
Genetic drug target validation using Mendelian randomisation. PMID:32591531
Whole-genome sequencing of European autochthonous and commercial pig breeds allows the detection of signatures of selection for adaptation of genetic resources to different breeding and production systems. PMID:32591011
Shared genetic etiology underlying late-onset Alzheimer's disease and posttraumatic stress syndrome. PMID:32588970
Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain conditions. PMID:32587327
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants. PMID:32586322
Evaluation of T-Cell Responses Against Shared Melanoma Associated Antigens and Predicted Neoantigens in Cutaneous Melanoma Patients Treated With the CSF-470 Allogeneic Cell Vaccine Plus BCG and GM-CSF. PMID:32582212
Monogenic and polygenic inheritance become instruments for clonal selection. PMID:32581363
Whole-genome sequencing of patients with rare diseases in a national health system. PMID:32581362
863 genomes reveal the origin and domestication of chicken. PMID:32581344
G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19. PMID:32577690
Allele-specific expression is widespread in Bos indicus muscle and affects meat quality candidate genes. PMID:32576896
ACE2 and TMPRSS2 variation in savanna monkeys (Chlorocebus spp.): Potential risk for zoonotic/anthroponotic transmission of SARS-CoV-2 and a potential model for functional studies. PMID:32574196
Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms. PMID:32573691
Somatic genetic aberrations in benign breast disease and the risk of subsequent breast cancer. PMID:32566745
Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally? PMID:32560373
Association of Dopamine Transporter Gene with Heroin Dependence in an Indian Subpopulation from Manipur. PMID:32557146
Combination of variations in inflammation- and endoplasmic reticulum-associated genes as putative biomarker for bevacizumab response in KRAS wild-type colorectal cancer. PMID:32555399
Spontaneous Tumor Regression in Tasmanian Devils Associated with RASL11A Activation. PMID:32554701
Application of targeted next generation sequencing for the mutational profiling of patients with acute lymphoblastic leukemia. PMID:32550823
Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses. PMID:32548945
Transcriptome, Spliceosome and Editome Expression Patterns of the Porcine Endometrium in Response to a Single Subclinical Dose of Salmonella Enteritidis Lipopolysaccharide. PMID:32545766
Imputation for sequencing variants preselected to a customized low-density chip. PMID:32533087
Clonal hematopoiesis is associated with adverse outcomes in multiple myeloma patients undergoing transplant. PMID:32533060
Population Structure, Stratification, and Introgression of Human Structural Variation. PMID:32531199
Proteogenomic Characterization of Ovarian HGSC Implicates Mitotic Kinases, Replication Stress in Observed Chromosomal Instability. PMID:32529193
Genetic Basis and Prognostic Value of Exercise QT Dynamics. PMID:32527199
Whole-genome sequencing provides new insights into genetic mechanisms of tropical adaptation in Nellore (Bos primigenius indicus). PMID:32523018
Natural Selection Shapes Codon Usage in the Human Genome. PMID:32516569
Insights on early mutational events in SARS-CoV-2 virus reveal founder effects across geographical regions. PMID:32509472
Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review. PMID:32508881
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. PMID:32504085
Branched evolution and genomic intratumor heterogeneity in the pathogenesis of cutaneous T-cell lymphoma. PMID:32502269
Whole-genome sequencing of a sporadic primary immunodeficiency cohort. PMID:32499645
HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data. PMID:32497118
SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update). PMID:32496546
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription. PMID:32492392
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
Duplication in ECR Near HMX1 and a SNP in GATA6 Genes Regulate Microtia in Awassi Sheep. PMID:32481741
Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis. PMID:32473611
A novel genomic region on chromosome 11 associated with fearfulness in dogs. PMID:32467585
The effect of LRRK2 loss-of-function variants in humans. PMID:32461697
Transcript expression-aware annotation improves rare variant interpretation. PMID:32461655
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. PMID:32461616
Mapping and characterization of structural variation in 17,795 human genomes. PMID:32460305
Molecular patterns in salivary duct carcinoma identify prognostic subgroups. PMID:32457410
Transcriptome profiling of porcine testis tissue reveals genes related to sperm hyperactive motility. PMID:32456687
Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy. PMID:32453872
Identification of single nucleotide pleomorphisms associated with periodontal disease in head and neck cancer irradiation patients by exome sequencing. PMID:32451231
Exome-Wide Analysis of the DiscovEHR Cohort Reveals Novel Candidate Pharmacogenomic Variants for Clinical Pharmacogenomics. PMID:32443490
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. PMID:32439900
Personalized neoantigen-based immunotherapy for advanced collecting duct carcinoma: case report. PMID:32439798
A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels. PMID:32417001
Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility. PMID:32407316
Gene networks and expression quantitative trait loci associated with adjuvant chemotherapy response in high-grade serous ovarian cancer. PMID:32404140
Twelve New Genomic Loci Associated With Bone Mineral Density. PMID:32390946
The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico. PMID:32390825
Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy. PMID:32388560
Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval. PMID:32386560
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. PMID:32384692
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. PMID:32382064
Single nucleotide polymorphisms affect RNA-protein interactions at a distance through modulation of RNA secondary structures. PMID:32379750
A Preliminary Study to Investigate the Genetic Background of Longevity Based on Whole-Genome Sequence Data of Two Methuselah Dogs. PMID:32373156
Unmasking Intra-tumoral Heterogeneity and Clonal Evolution in NF1-MPNST. PMID:32369930
Human Prehistoric Demography Revealed by the Polymorphic Pattern of CpG Transitions. PMID:32369585
Hypoxia increases mutational load of breast cancer cells through frameshift mutations. PMID:32363122
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. PMID:32347951
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate. PMID:32347641
Parallel Genetic Origin of Foot Feathering in Birds. PMID:32344429
Methodological differences can affect sequencing depth with a possible impact on the accuracy of genetic diagnosis. PMID:32343762
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. PMID:32338762
VarFish: comprehensive DNA variant analysis for diagnostics and research. PMID:32338743
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. PMID:32337771
C/EBPα and GATA-2 Mutations Induce Bilineage Acute Erythroid Leukemia through Transformation of a Neomorphic Neutrophil-Erythroid Progenitor. PMID:32330454
Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A. PMID:32322428
The evolving role of Fourier-transform mid-infrared spectroscopy in genetic improvement of dairy cattle. PMID:32322393
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa. PMID:32322264
Mechanisms and therapeutic implications of hypermutation in gliomas. PMID:32322066
Identification of Candidate Genes Associated with Susceptibility to Ovarian Clear Cell Adenocarcinoma Using cis-eQTL Analysis. PMID:32316112
Genetic characterization of a unique neuroendocrine transdifferentiation prostate circulating tumor cell-derived eXplant model. PMID:32313004
Genome-wide genetic structure and selection signatures for color in 10 traditional Chinese yellow-feathered chicken breeds. PMID:32312230
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction. PMID:32303876
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. PMID:32300136
Germline Elongator mutations in Sonic Hedgehog medulloblastoma. PMID:32296180
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia. PMID:32296054
TarPan: an easily adaptable targeted sequencing panel viewer for research and clinical use. PMID:32293247
Prot2HG: a database of protein domains mapped to the human genome. PMID:32293014
CScape-somatic: distinguishing driver and passenger point mutations in the cancer genome. PMID:32282885
Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung Cancer Cases and 15,971 Controls. PMID:32277007
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants. PMID:32269765
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. PMID:32268104
Phase I Trial of Trametinib with Neoadjuvant Chemoradiation in Patients with Locally Advanced Rectal Cancer. PMID:32253228
Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan. PMID:32251405
pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing. PMID:32245405
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes. PMID:32242007
Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma. PMID:32241263
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era. PMID:32231685
dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions. PMID:32227657
Common variation at 16p11.2 is associated with glycosuria in pregnancy: findings from a genome-wide association study in European women. PMID:32227112
Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples. PMID:32224839
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. PMID:32214227
UEG Week 2019 Oral Presentations. PMID:32213000
OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine. PMID:32210335
Landscape of Mitochondria Genome and Clinical Outcomes in Stage 1 Lung Adenocarcinoma. PMID:32210009
Association of G6PD variants with hemoglobin A1c and impact on diabetes diagnosis in East Asian individuals. PMID:32209585
The prognostic significance of immune microenvironment in breast ductal carcinoma in situ. PMID:32203210
The genetic architecture of breast papillary lesions as a predictor of progression to carcinoma. PMID:32195332
Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations. PMID:32193382
Identification of the ABCC4, IER3, and CBFA2T2 candidate genes for resistance to paratuberculosis from sequence-based GWAS in Holstein and Normande dairy cattle. PMID:32183688
Mendelian Randomization Identifies CpG Methylation Sites With Mediation Effects for Genetic Influences on BMD in Peripheral Blood Monocytes. PMID:32180791
Genome-wide association study of adipocyte lipolysis in the GENetics of adipocyte lipolysis (GENiAL) cohort. PMID:32180562
Selected neuropeptide genes show genetic differentiation between Africans and non-Africans. PMID:32171244
Analysis of gene variants in the GASH/Sal model of epilepsy. PMID:32168507
Gene Polymorphisms in Boar Spermatozoa and Their Associations with Post-Thaw Semen Quality. PMID:32164368
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia. PMID:32160374
Coding and noncoding drivers of mantle cell lymphoma identified through exome and genome sequencing. PMID:32160292
Genetic Diversity, Population Structure and Linkage Disequilibrium Assessment among International Sunflower Breeding Collections. PMID:32155892
Molecular profiling of an osseous metastasis in glioblastoma during checkpoint inhibition: potential mechanisms of immune escape. PMID:32151286
The influence of rare variants in circulating metabolic biomarkers. PMID:32150548
Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features. PMID:32144282
Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing. PMID:32143403
Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder. PMID:32133155
Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases. PMID:32128391
Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk. PMID:32128252
Effect direction meta-analysis of GWAS identifies extreme, prevalent and shared pleiotropy in a large mammal. PMID:32111961
The genetics of situs inversus without primary ciliary dyskinesia. PMID:32111882
Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens. PMID:32110191
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders. PMID:32109419
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. PMID:32098967
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. PMID:32098966
Exploring Integrative Analysis Using the BioMedical Evidence Graph. PMID:32097025
Adaptation to Industrial Stressors Through Genomic and Transcriptional Plasticity in a Bioethanol Producing Fission Yeast Isolate. PMID:32086247
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. PMID:32084423
Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations. PMID:32084179
DNA and RNA sequencing identified a novel oncogene VPS35 in liver hepatocellular carcinoma. PMID:32071398
ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome. PMID:32068070
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. PMID:32066727
A polygenic predictor of treatment-resistant depression using whole exome sequencing and genome-wide genotyping. PMID:32066715
Tumor suppressor genes and allele-specific expression: mechanisms and significance. PMID:32064050
Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci. PMID:32059762
Epigenetic loss of heterozygosity of Apc and an inflammation-associated mutational signature detected in Lrig1+/--driven murine colonic adenomas. PMID:32059662
SuperFreq: Integrated mutation detection and clonal tracking in cancer. PMID:32053599
Comparative Molecular Life History of Spontaneous Canine and Human Gliomas. PMID:32049048
S100A7/Ran-binding protein 9 coevolution in mammals. PMID:32043173
A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associated with white coat colour in a red deer (Cervus elaphus) population. PMID:32041521
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. PMID:32040484
Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease. PMID:32035846
pCADD: SNV prioritisation in Sus scrofa. PMID:32033531
Genomic basis for RNA alterations in cancer. PMID:32025019
Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene. PMID:32021365
Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma. PMID:32019284
Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes. PMID:32018185
Expanding the phenotypic spectrum in RDH12-associated retinal disease. PMID:32014858
Development of a Precision Medicine Workflow in Hematological Cancers, Aalborg University Hospital, Denmark. PMID:32013121
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. PMID:32011687
Sequence conservation of mitochondrial (mt)DNA during expansion of clonal mammary epithelial populations suggests a common mtDNA template in CzechII mice. PMID:32010429
Genome-wide association study on Fourier transform infrared milk spectra for two Danish dairy cattle breeds. PMID:32005101
Genomic regions associated with muscularity in beef cattle differ in five contrasting cattle breeds. PMID:32000665
Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PMID:31999692
Candidate Regulators of Dyslipidemia in Chromosome 1 Substitution Lines Using Liver Co-Expression Profiling Analysis. PMID:31998355
Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population. PMID:31998221
Clinical Genome Data Model (cGDM) provides Interactive Clinical Decision Support for Precision Medicine. PMID:31996707
The type of bottleneck matters: Insights into the deleterious variation landscape of small managed populations. PMID:31993080
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts. PMID:31992710
Evaluation of genetic diversity, agronomic traits, and anthracnose resistance in the NPGS Sudan Sorghum Core collection. PMID:31992189
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. PMID:31981491
Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. PMID:31980649
CUBIC: an atlas of genetic architecture promises directed maize improvement. PMID:31980033
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly. PMID:31974348
An integrated analysis of public genomic data unveils a possible functional mechanism of psoriasis risk via a long-range ERRFI1 enhancer. PMID:31969149
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population. PMID:31964835
Candidate genes and gene markers for the resistance to porcine pleuropneumonia. PMID:31960078
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. PMID:31957018
Dating genomic variants and shared ancestry in population-scale sequencing data. PMID:31951611
SWEDEGENE-a Swedish nation-wide DNA sample collection for pharmacogenomic studies of serious adverse drug reactions. PMID:31949290
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis. PMID:31936765
Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. PMID:31936656
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. PMID:31932766
The open targets post-GWAS analysis pipeline. PMID:31930349
Age dependent association of inbreeding with risk for schizophrenia in Egypt. PMID:31928911
Genomic profiling of human vascular cells identifies TWIST1 as a causal gene for common vascular diseases. PMID:31917787
Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. PMID:31914939
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. PMID:31914217
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. PMID:31911677
Selecting likely causal risk factors from high-throughput experiments using multivariable Mendelian randomization. PMID:31911605
An Automated Method To Predict Mouse Gene and Protein Sequences Using Variant Data. PMID:31911484
Heritability of interpack aggression in a wild pedigreed population of North American grey wolves. PMID:31905256
Evolution of Listeria monocytogenes in a Food Processing Plant Involves Limited Single-Nucleotide Substitutions but Considerable Diversification by Gain and Loss of Prophages. PMID:31900305
Molecular and clonal evolution in recurrent metastatic gliosarcoma. PMID:31896544
Functional annotation of de novo variants from healthy individuals. PMID:31896246
Neoantigen-specific immunity in low mutation burden colorectal cancers of the consensus molecular subtype 4. PMID:31888734
Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients. PMID:31888276
Identification of pathogenic variant enriched regions across genes and gene families. PMID:31871067
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. PMID:31866047
GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining. PMID:31856831
Detection of a Frameshift Deletion in the SPTBN4 Gene Leads to Prevention of Severe Myopathy and Postnatal Mortality in Pigs. PMID:31850074
Neoantigen Fitness Model Predicts Lower Immune Recognition of Cutaneous Squamous Cell Carcinomas Than Actinic Keratoses. PMID:31849976
Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type. PMID:31849330
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. PMID:31848685
Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania. PMID:31844061
Transcriptome-wide association study identifies putative elicitors/suppressor of Puccinia graminis f. sp. tritici that modulate barley rpg4-mediated stem rust resistance. PMID:31842749
Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children. PMID:31841498
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI. PMID:31840077
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms. PMID:31836783
Using mechanistic models for the clinical interpretation of complex genomic variation. PMID:31831811
ClinVAP: a reporting strategy from variants to therapeutic options. PMID:31830259
A pan-cancer somatic mutation embedding using autoencoders. PMID:31829157
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication. PMID:31823155
Discovery of genomic variations by whole-genome resequencing of the North American Araucana chicken. PMID:31821332
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. PMID:31814998
The Laboratory Domestication of Zebrafish: From Diverse Populations to Inbred Substrains. PMID:31808937
Potential of TLR-gene diversity in Czech indigenous cattle for resistance breeding as revealed by hybrid sequencing. PMID:31807659
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants. PMID:31801603
EGFR mutation: novel prognostic factor associated with immune infiltration in lower-grade glioma; an exploratory study. PMID:31801484
Carotid Intima-Media Thickness: Novel Loci, Sex-Specific Effects, and Genetic Correlations With Obesity and Glucometabolic Traits in UK Biobank. PMID:31801372
Somatic mutation signatures in primary liver tumors of workers exposed to ionizing radiation. PMID:31796844
Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function. PMID:31787869
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders. PMID:31785789
A bird's-eye view of Italian genomic variation through whole-genome sequencing. PMID:31784700
DNA Sequence Variants and Protein Haplotypes of Casein Genes in German Black Pied Cattle (DSN). PMID:31781175
Complete Multilineage CD4 Expression Defect Associated With Warts Due to an Inherited Homozygous CD4 Gene Mutation. PMID:31781092
Characterization of genetic subclonal evolution in pancreatic cancer mouse models. PMID:31780749
De novo variation in bipolar disorder. PMID:31776463
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. PMID:31768057
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. PMID:31768050
VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants. PMID:31765830
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions. PMID:31765389
Natural Variation in a Dendritic Scaffold Protein Remodels Experience-Dependent Plasticity by Altering Neuropeptide Expression. PMID:31757604
Combined Effects of MMP-7, MMP-8 and MMP-26 on the Risk of Ischemic Stroke. PMID:31752174
Genomic Analysis of Posterior Fossa Meningioma Demonstrates Frequent AKT1 E17K Mutations in Foramen Magnum Meningiomas. PMID:31750041
Molecular switch from MYC to MYCN expression in MYC protein negative Burkitt lymphoma cases. PMID:31748534
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants. PMID:31745173
SPDI: data model for variants and applications at NCBI. PMID:31738401
Multiple antibodies targeting tumor-specific mutations redirect immune cells to inhibit tumor growth and increase survival in experimental animal models. PMID:31732916
Associations of microRNAs, Angiogenesis-Regulating Factors and CFH Y402H Polymorphism-An Attempt to Search for Systemic Biomarkers in Age-Related Macular Degeneration. PMID:31731799
Alterations in ZnT1 expression and function lead to impaired intracellular zinc homeostasis in cancer. PMID:31728210
Clinical and genetic variability in children with partial albinism. PMID:31719542
Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis. PMID:31710517
Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle. PMID:31703548
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. PMID:31700225
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. PMID:31694722
Ensembl 2020. PMID:31691826
Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank. PMID:31691645
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
Allelic Variants for Candidate Nitrogen Fixation Genes Revealed by Sequencing in Red Clover (Trifolium pratense L.). PMID:31684086
The DisGeNET knowledge platform for disease genomics: 2019 update. PMID:31680165
Advances in asthma and allergic disease genetics: Is bigger always better? PMID:31677964
pTuneos: prioritizing tumor neoantigens from next-generation sequencing data. PMID:31666118
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study. PMID:31664177
A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report. PMID:31656537
The use of PanDrugs to prioritize anticancer drug treatments in a case of T-ALL based on individual genomic data. PMID:31655559
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders. PMID:31653860
HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases. PMID:31653226
A unicellular relative of animals generates a layer of polarized cells by actomyosin-dependent cellularization. PMID:31647412
Future prospects for dissecting inter-individual variability in the absorption, distribution and elimination of plant bioactives of relevance for cardiometabolic endpoints. PMID:31642982
Genomic Basis of Convergent Island Phenotypes in Boa Constrictors. PMID:31642474
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations. PMID:31640808
NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants. PMID:31640730
Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds. PMID:31640551
Loss of Imprinting in Human Placentas Is Widespread, Coordinated, and Predicts Birth Phenotypes. PMID:31639821
A different view on fine-scale population structure in Western African populations. PMID:31630246
Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. PMID:31626773
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. PMID:31625690
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. PMID:31624253
Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency. PMID:31624068
Patient Dossier: Healthcare queries over distributed resources. PMID:31622330
In Silico Genetics Revealing 5 Mutations in CEBPA Gene Associated With Acute Myeloid Leukemia. PMID:31621694
Precision oncology: lessons learned and challenges for the future. PMID:31616176
TAPES: A tool for assessment and prioritisation in exome studies. PMID:31613886
VarSite: Disease variants and protein structure. PMID:31606900
Contribution of retrotransposition to developmental disorders. PMID:31604926
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. PMID:31601707
Ensembl Genomes 2020-enabling non-vertebrate genomic research. PMID:31598706
Illuminating biological pathways for drug targeting in head and neck squamous cell carcinoma. PMID:31596908
Identification of somatic alterations in lipoma using whole exome sequencing. PMID:31591430
Genetic modification of primary human B cells to model high-grade lymphoma. PMID:31586074
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort. PMID:31585106
Bayesian localization of CNV candidates in WGS data within minutes. PMID:31572486
Comparative Genomics Reveals Shared Mutational Landscape in Canine Hemangiosarcoma and Human Angiosarcoma. PMID:31570656
Tumor-Based Genetic Testing and Familial Cancer Risk. PMID:31570381
GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank. PMID:31564434
Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain. PMID:31560688
Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice. PMID:31558682
Characterization of disease resistance genes in the Brassica napus pangenome reveals significant structural variation. PMID:31553100
Loss of Janus Associated Kinase 1 Alters Urothelial Cell Function and Facilitates the Development of Bladder Cancer. PMID:31552026
Common brain disorders are associated with heritable patterns of apparent aging of the brain. PMID:31551603
Whole Genome Sequencing of the Mutamouse Model Reveals Strain- and Colony-Level Variation, and Genomic Features of the Transgene Integration Site. PMID:31551502
Mutation profiling of cancer drivers in Brazilian colorectal cancer. PMID:31548566
Variant analysis pipeline for accurate detection of genomic variants from transcriptome sequencing data. PMID:31545812
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. PMID:31544997
Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification. PMID:31544924
Genetic determinants of cellular addiction to DNA polymerase theta. PMID:31537809
Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs. PMID:31533369
Estimating the Frequency of Single Point Driver Mutations across Common Solid Tumours. PMID:31530827
The Genome of the Endangered Dryas Monkey Provides New Insights into the Evolutionary History of the Vervets. PMID:31529046
Safety evaluation of conditionally immortalized cells for renal replacement therapy. PMID:31523392
Identification of bovine CpG SNPs as potential targets for epigenetic regulation via DNA methylation. PMID:31513639
regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants. PMID:31511901
Late-differentiated effector neoantigen-specific CD8+ T cells are enriched in peripheral blood of non-small cell lung carcinoma patients responding to atezolizumab treatment. PMID:31511069
Gene-diet interactions associated with complex trait variation in an advanced intercross outbred mouse line. PMID:31506438
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. PMID:31504550
A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease. PMID:31504285
Quantifying the contribution of sequence variants with regulatory and evolutionary significance to 34 bovine complex traits. PMID:31501319
Pathway analysis of genomic pathology tests for prognostic cancer subtyping. PMID:31499184
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. PMID:31477735
The molecular origin and taxonomy of mucinous ovarian carcinoma. PMID:31477716
Marker discovery and associations with β-carotene content in Indian dairy cattle and buffalo breeds. PMID:31477308
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients. PMID:31475473
GRAM: A GeneRAlized Model to predict the molecular effect of a non-coding variant in a cell-type specific manner. PMID:31469829
An analysis of genetic heterogeneity in untreated cancers. PMID:31455892
A first genetic portrait of synaptonemal complex variation. PMID:31449519
Identification of predictive genetic signatures of Cytarabine responsiveness using a 3D acute myeloid leukaemia model. PMID:31449347
Neoantigen vaccine: an emerging tumor immunotherapy. PMID:31443694
A Phase Ib Study of the Combination of Personalized Autologous Dendritic Cell Vaccine, Aspirin, and Standard of Care Adjuvant Chemotherapy Followed by Nivolumab for Resected Pancreatic Adenocarcinoma-A Proof of Antigen Discovery Feasibility in Three Patients. PMID:31440238
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. PMID:31439692
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. PMID:31433103
Meta-MultiSKAT: Multiple phenotype meta-analysis for region-based association test. PMID:31433078
Gene Expression Profiling Analysis Reveals Putative Phytochemotherapeutic Target for Castration-Resistant Prostate Cancer. PMID:31428582
A high resolution A-to-I editing map in the mouse identifies editing events controlled by pre-mRNA splicing. PMID:31427386
The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk. PMID:31413141
GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits. PMID:31409800
Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1. PMID:31409373
Whole genome sequencing and rare variant analysis in essential tremor families. PMID:31404076
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. PMID:31398340
ALG9 Mutation Carriers Develop Kidney and Liver Cysts. PMID:31395617
Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert. PMID:31384924
Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models. PMID:31372844
Deep targeted sequencing analysis of hot spot mutations in non-small cell lung cancer patients from the Middle Eastern population. PMID:31372275
Somatic evolution and global expansion of an ancient transmissible cancer lineage. PMID:31371581
Exome sequencing of Finnish isolates enhances rare-variant association power. PMID:31367044
Uncovering missed indels by leveraging unmapped reads. PMID:31366961
PathwayMatcher: proteoform-centric network construction enables fine-granularity multiomics pathway mapping. PMID:31363752
High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer. PMID:31358837
Global view of the RAF-MEK-ERK module and its immediate downstream effectors. PMID:31350469
Inosine RNA modifications are enriched at the codon wobble position in mouse oocytes and eggs†. PMID:31346607
Molecular Profiling Reclassifies Adult Astroblastoma into Known and Clinically Distinct Tumor Entities with Frequent Mitogen-Activated Protein Kinase Pathway Alterations. PMID:31346129
Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2. PMID:31341965
Histologic features and genomic alterations of primary colorectal adenocarcinoma predict growth patterns of liver metastasis. PMID:31341365
Exome-Wide Rare Variant Analysis From the DiscovEHR Study Identifies Novel Candidate Predisposition Genes for Endometrial Cancer. PMID:31338326
Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing. PMID:31336886
ANGPT2 and NOS3 Polymorphisms and Clinical Outcome in Advanced Hepatocellular Carcinoma Patients Receiving Sorafenib. PMID:31330833
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. PMID:31328417
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. PMID:31327507
Induction of Acquired Resistance towards EGFR Inhibitor Gefitinib in a Patient-Derived Xenograft Model of Non-Small Cell Lung Cancer and Subsequent Molecular Characterization. PMID:31323891
Single-Nucleotide Polymorphisms Sequencing Identifies Candidate Functional Variants at Prostate Cancer Risk Loci. PMID:31323811
Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma. PMID:31320741
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets. PMID:31320640
Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report. PMID:31309178
Contributions of Rare Gene Variants to Familial and Sporadic FSGS. PMID:31308072
Recurrent miscalling of missense variation from short-read genome sequence data. PMID:31307400
GWAS for Meat and Carcass Traits Using Imputed Sequence Level Genotypes in Pooled F2-Designs in Pigs. PMID:31296617
CoMutPlotter: a web tool for visual summary of mutations in cancer cohorts. PMID:31296206
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. PMID:31294896
Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives. PMID:31293624
Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer. PMID:31287991
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease. PMID:31283791
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
Improvement of genomic prediction by integrating additional single nucleotide polymorphisms selected from imputed whole genome sequencing data. PMID:31278370
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. PMID:31278258
Implementing the FAIR Data Principles in precision oncology: review of supporting initiatives. PMID:31263868
Sequence-based GWAS, network and pathway analyses reveal genes co-associated with milk cheese-making properties and milk composition in Montbéliarde cows. PMID:31262251
Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring. PMID:31240266
Integrative genomic analysis of matched primary and metastatic pediatric osteosarcoma. PMID:31236944
PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations. PMID:31233103
Data on somatic mutations obtained by whole exome sequencing of FFPE tissue samples from Russian patients with prostate cancer. PMID:31223638
Effects of somatic alterations at pathway level are more mechanism-explanatory and clinically applicable to quantity of liver metastases of colorectal cancer. PMID:31219228
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants. PMID:31216868
The identification of a TNBC liver metastasis gene signature by sequential CTC-xenograft modeling. PMID:31216110
Mechanisms of immunogenicity in colorectal cancer. PMID:31216061
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. PMID:31215115
Investigation of Genetic Susceptibility to Blastomycosis Reveals Interleukin-6 as a Potential Susceptibility Locus. PMID:31213563
Aquatic Adaptation and Depleted Diversity: A Deep Dive into the Genomes of the Sea Otter and Giant Otter. PMID:31212313
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel. PMID:31207142
Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study. PMID:31201950
VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations. PMID:31192369
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins. PMID:31186485
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. PMID:31180157
Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients. PMID:31173236
Comparative genomics provides new insights into the remarkable adaptations of the African wild dog (Lycaon pictus). PMID:31171819
MTR-Viewer: identifying regions within genes under purifying selection. PMID:31170280
Defining the genetic control of human blood plasma N-glycome using genome-wide association study. PMID:31163085
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects. PMID:31161195
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. PMID:31160820
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. PMID:31160700
A case study of a long-term glioblastoma survivor with unmethylated MGMT and hypermutated genotype. PMID:31160353
Whole-Exome Sequencing Identifies Somatic Mutations Associated With Mortality in Metastatic Clear Cell Kidney Carcinoma. PMID:31156702
Targeting Mutated Plus Germline Epitopes Confers Pre-clinical Efficacy of an Instantly Formulated Cancer Nano-Vaccine. PMID:31156619
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. PMID:31147538
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. PMID:31144778
The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer. PMID:31141692
The Kipoi repository accelerates community exchange and reuse of predictive models for genomics. PMID:31138913
Rare variant phasing using paired tumor:normal sequence data. PMID:31132991
Transcriptome analysis of gingival tissues of enamel-renal syndrome. PMID:31131889
VCF-Server: A web-based visualization tool for high-throughput variant data mining and management. PMID:31127704
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome. PMID:31124294
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. PMID:31118516
Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report. PMID:31118044
A new chicken 55K SNP genotyping array. PMID:31117951
Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs. PMID:31117290
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. PMID:31114901
Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. PMID:31114635
Mutational landscape in genetically engineered, carcinogen-induced, and radiation-induced mouse sarcoma. PMID:31112524
Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia. PMID:31112269
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report. PMID:31101089
Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy. PMID:31095341
Genetic variation in CADM2 as a link between psychological traits and obesity. PMID:31089183
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene. PMID:31088393
Targeted deep sequencing of urothelial bladder cancers and associated urinary DNA: a 23-gene panel with utility for non-invasive diagnosis and risk stratification. PMID:31077629
Gigwa v2-Extended and improved genotype investigator. PMID:31077313
Weighting sequence variants based on their annotation increases the power of genome-wide association studies in dairy cattle. PMID:31077144
A Premature Stop Codon in RAF1 Is the Priority Candidate Causative Mutation of the Inherited Chicken Wingless-2 Developmental Syndrome. PMID:31075853
PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants. PMID:31075275
Identification of disease-associated loci using machine learning for genotype and network data integration. PMID:31070705
Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis. PMID:31070582
Targeted Sequencing Study to Uncover Shared Genetic Susceptibility Between Peripheral Artery Disease and Coronary Heart Disease-Brief Report. PMID:31070467
CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice. PMID:31070280
A fully-automated event-based variant prioritizing solution to the CAGI5 intellectual disability gene panel challenge. PMID:31066479
Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease. PMID:31058951
Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population. PMID:31053132
MOSClip: multi-omic and survival pathway analysis for the identification of survival associated gene and modules. PMID:31049575
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. PMID:31048081
Gain-of-Function Mutations: An Emerging Advantage for Cancer Biology. PMID:31047772
SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data. PMID:31045209
Identification of a Locus in Mice that Regulates the Collateral Damage and Lethality of Virus Infection. PMID:31042467
Examining the Impact of Imputation Errors on Fine-Mapping Using DNA Methylation QTL as a Model Trait. PMID:31040117
ClinOmicsTrailbc: a visual analytics tool for breast cancer treatment stratification. PMID:31038669
[Detection and interpretation of somatic variants in molecular pathology]. PMID:31037375
Genetics of adaptation in modern chicken. PMID:31034467
Differential effects on neurodevelopment of FTO variants in obesity and bipolar disorder suggested by in silico prediction of functional impact: An analysis in Mexican population. PMID:31033179
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. PMID:31028937
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. PMID:31026367
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening. PMID:31026269
Recent advances in understanding the molecular genetic basis of mitochondrial disease. PMID:31021000
Systems Approach to Identify Common Genes and Pathways Associated with Response to Selective Serotonin Reuptake Inhibitors and Major Depression Risk. PMID:31018568
Mutational landscape of canine B-cell lymphoma profiled at single nucleotide resolution by RNA-seq. PMID:31017932
Sequencing of human genomes with nanopore technology. PMID:31015479
Varicose veins of lower extremities: Insights from the first large-scale genetic study. PMID:30998689
Removal of alleles by genome editing (RAGE) against deleterious load. PMID:30995904
Transcriptome-wide off-target RNA editing induced by CRISPR-guided DNA base editors. PMID:30995674
Genome-Wide SNP Discovery in Indigenous Cattle Breeds of South Africa. PMID:30988672
Comparing signals of natural selection between three Indigenous North American populations. PMID:30988184
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders. PMID:30985853
Integrated Transcriptomic and Proteomic Analysis of Primary Human Umbilical Vein Endothelial Cells. PMID:30983154
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis. PMID:30976013
Genome-wide association study of suicide attempt in a Mexican population: a study protocol. PMID:30975676
A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle. PMID:30975085
A QTL for Number of Teats Shows Breed Specific Effects on Number of Vertebrae in Pigs: Bridging the Gap Between Molecular and Quantitative Genetics. PMID:30972109
A genome-wide association study of tramadol metabolism from post-mortem samples. PMID:30971809
A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function. PMID:30971721
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature. PMID:30968303
Identification and Validation of a Biomarker Signature in Patients With Resectable Pancreatic Cancer via Genome-Wide Screening for Functional Genetic Variants. PMID:30942874
Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology. PMID:30940804
Germline deletion of ETV6 in familial acute lymphoblastic leukemia. PMID:30940639
Prioritizing candidate genes for fertility in dairy cows using gene-based analysis, functional annotation and differential gene expression. PMID:30935378
Targeted enrichment by solution-based hybrid capture to identify genetic sequence variants in barley. PMID:30931948
Placenta Transcriptome Profiling in Intrauterine Growth Restriction (IUGR). PMID:30917529
A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis. PMID:30917156
Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation. PMID:30914438
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies. PMID:30911571
Genomic Analysis in the Age of Human Genome Sequencing. PMID:30901550
Gene Expression Networks Across Multiple Tissues Are Associated with Rates of Molecular Evolution in Wild House Mice. PMID:30889893
Undifferentiated Sarcomas Develop through Distinct Evolutionary Pathways. PMID:30889380
Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis. PMID:30881381
Loss of function mutations in essential genes cause embryonic lethality in pigs. PMID:30875370
Exonic sequencing identifies TLR1 genetic variation associated with mortality in Thais with melioidosis. PMID:30866782
Survey of allele specific expression in bovine muscle. PMID:30862965
Integrative genomic analysis of peritoneal malignant mesothelioma: understanding a case with extraordinary chemotherapy response. PMID:30862609
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. PMID:30859559
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects. PMID:30859180
Interrogation of human hematopoiesis at single-cell and single-variant resolution. PMID:30858613
Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy. PMID:30858532
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. PMID:30847515
Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions. PMID:30847478
Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation. PMID:30847336
Urban colonization through multiple genetic lenses: The city-fox phenomenon revisited. PMID:30847091
Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease. PMID:30842500
UniProt genomic mapping for deciphering functional effects of missense variants. PMID:30840782
The neoepitope landscape of breast cancer: implications for immunotherapy. PMID:30832597
Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene. PMID:30828495
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. PMID:30827497
A pathway-driven predictive model of tramadol pharmacogenetics. PMID:30824817
Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. PMID:30824715
Genomic Features of Exceptional Response in Vemurafenib ± Cobimetinib-treated Patients with BRAF V600-mutated Metastatic Melanoma. PMID:30824584
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing. PMID:30823901
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. PMID:30820047
Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. PMID:30809243
A QIL1 Variant Associated with Ventricular Arrhythmias and Sudden Cardiac Death in the Juvenile Rhodesian Ridgeback Dog. PMID:30795627
SEQprocess: a modularized and customizable pipeline framework for NGS processing in R package. PMID:30786880
Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel. PMID:30777372
Tailored NEOadjuvant epirubicin, cyclophosphamide and Nanoparticle Albumin-Bound paclitaxel for breast cancer: The phase II NEONAB trial-Clinical outcomes and molecular determinants of response. PMID:30763338
Establishment, molecular and biological characterization of HCB-514: a novel human cervical cancer cell line. PMID:30760827
Convergent perturbation of the human domain-resolved interactome by viruses and mutations inducing similar disease phenotypes. PMID:30759076
Streamlined computational pipeline for genetic background characterization of genetically engineered mice based on next generation sequencing data. PMID:30755158
Insight into the genetic architecture of back pain and its risk factors from a study of 509,000 individuals. PMID:30747904
Identification of novel genome-wide associations for suicidality in UK Biobank, genetic correlation with psychiatric disorders and polygenic association with completed suicide. PMID:30745170
How good are pathogenicity predictors in detecting benign variants? PMID:30742610
Most canine ameloblastomas harbor HRAS mutations, providing a novel large-animal model of RAS-driven cancer. PMID:30741938
Bidirectional Selection for Body Weight on Standing Genetic Variation in a Chicken Model. PMID:30737239
Identification of 12 genetic loci associated with human healthspan. PMID:30729179
Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes. PMID:30718883
The genomics of major psychiatric disorders in a large pedigree from Northern Sweden. PMID:30718465
A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. PMID:30715562
A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion. PMID:30712845
How genomics can be used to understand host susceptibility to enteric infection, aiding in the development of vaccines and immunotherapeutic interventions. PMID:30709726
GenESysV: a fast, intuitive and scalable genome exploration open source tool for variants generated from high-throughput sequencing projects. PMID:30704396
Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia. PMID:30700761
Dissecting closely linked association signals in combination with the mammalian phenotype database can identify candidate genes in dairy cattle. PMID:30696404
CLOCK Polymorphisms in Attention-Deficit/Hyperactivity Disorder (ADHD): Further Evidence Linking Sleep and Circadian Disturbances and ADHD. PMID:30696097
Linked Mutations at Adjacent Nucleotides Have Shaped Human Population Differentiation and Protein Evolution. PMID:30689878
Exome Resequencing Reveals Evolutionary History, Genomic Diversity, and Targets of Selection in the Conifers Pinus taeda and Pinus elliottii. PMID:30689841
Multiple QTL underlie milk phenotypes at the CSF2RB locus. PMID:30678637
Genetics and Genomic Regions Affecting Response to Newcastle Disease Virus Infection under Heat Stress in Layer Chickens. PMID:30669351
A nonhuman primate model of inherited retinal disease. PMID:30667376
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma. PMID:30664638
Shared Molecular Targets Confer Resistance over Short and Long Evolutionary Timescales. PMID:30657986
LFMM 2: Fast and Accurate Inference of Gene-Environment Associations in Genome-Wide Studies. PMID:30657943
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma. PMID:30657791
MYORG is associated with recessive primary familial brain calcification. PMID:30656188
Improved indel detection in DNA and RNA via realignment with ABRA2. PMID:30649250
Sliding window haplotype approaches overcome single SNP analysis limitations in identifying genes for meat tenderness in Nelore cattle. PMID:30642245
Deleterious alleles in the context of domestication, inbreeding, and selection. PMID:30622631
High genomic diversity and candidate genes under selection associated with range expansion in eastern coyote (Canis latrans) populations. PMID:30619570
Admixture Effects on Coevolved Metabolic Systems. PMID:30619461
Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population. PMID:30619065
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis. PMID:30612247
Leveraging Polygenic Functional Enrichment to Improve GWAS Power. PMID:30595370
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. PMID:30591557
Pathogenicity and selective constraint on variation near splice sites. PMID:30587507
Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery. PMID:30586722
Association of Copy Number Variation at Intron 3 of HMGA2 With Navel Length in Bos indicus. PMID:30581455
Ensembl variation resources. PMID:30576484
Sequence variation, evolutionary constraint, and selection at the CD163 gene in pigs. PMID:30572815
Human papillomavirus and the landscape of secondary genetic alterations in oral cancers. PMID:30563911
Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma. PMID:30561643
Seave: a comprehensive web platform for storing and interrogating human genomic variation. PMID:30561546
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. PMID:30556619
Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India. PMID:30555256
Use of Germline Genetic Variability for Prediction of Chemoresistance and Prognosis of Breast Cancer Patients. PMID:30545124
Identification of deleterious and regulatory genomic variations in known asthma loci. PMID:30541564
Hypermutagenesis in untreated adult gliomas due to inherited mismatch mutations. PMID:30536544
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. PMID:30535219
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. PMID:30531953
A map of constrained coding regions in the human genome. PMID:30531870
Widespread cis-regulation of RNA editing in a large mammal. PMID:30530731
Frontotemporal dementia spectrum: first genetic screen in a Greek cohort. PMID:30528349
Genomic landscape of oxidative DNA damage and repair reveals regioselective protection from mutagenesis. PMID:30526646
Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report. PMID:30526509
Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds. PMID:30521570
A common pathomechanism in GMAP-210- and LBR-related diseases. PMID:30518689
A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions. PMID:30503770
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease. PMID:30503768
The Genetic Landscape of Diamond-Blackfan Anemia. PMID:30503522
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data. PMID:30503520
Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies. PMID:30486920
Downstream TRPM4 Polymorphisms Are Associated with Intracranial Hypertension and Statistically Interact with ABCC8 Polymorphisms in a Prospective Cohort of Severe Traumatic Brain Injury. PMID:30484364
Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine. PMID:30482208
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. PMID:30478444
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity. PMID:30475984
Molecular insights into genome-wide association studies of chronic kidney disease-defining traits. PMID:30467309
A Meta-Analysis Including Pre-selected Sequence Variants Associated With Seven Traits in Three French Dairy Cattle Populations. PMID:30459810
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. PMID:30459467
Mutation of a serine near the catalytic site of the choline acetyltransferase a gene almost completely abolishes motility of the zebrafish embryo. PMID:30458023
Growth factor gene IGF1 is associated with bill size in the black-bellied seedcracker Pyrenestes ostrinus. PMID:30451848
Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of ERAP2 transcripts under balancing selection. PMID:30446528
The European Bioinformatics Institute in 2018: tools, infrastructure and training. PMID:30445657
Identification of genetic variants associated with tacrolimus metabolism in kidney transplant recipients by extreme phenotype sampling and next generation sequencing. PMID:30442921
Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. PMID:30420678
An Interrogation of Shared and Unique Copy Number Variants Across Genetically Distinct Zebrafish Strains. PMID:30418105
Quantifying the contribution of recessive coding variation to developmental disorders. PMID:30409806
Hybridisation-based target enrichment of phenology genes to dissect the genetic basis of yield and adaptation in barley. PMID:30407713
Cancer3D 2.0: interactive analysis of 3D patterns of cancer mutations in cancer subsets. PMID:30407596
PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. PMID:30407536
Ensembl 2019. PMID:30407521
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits. PMID:30405126
BioInstaller: a comprehensive R package to construct interactive and reproducible biological data analysis applications based on the R platform. PMID:30402350
Radiotherapy induces responses of lung cancer to CTLA-4 blockade. PMID:30397353
The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. PMID:30397020
Type 2 diabetes increases oocyte mtDNA mutations which are eliminated in the offspring by bottleneck effect. PMID:30390692
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome. PMID:30377230
Non-invasive genotyping with a massively parallel sequencing panel for the detection of SNPs in HPA-axis genes. PMID:30374157
iDog: an integrated resource for domestic dogs and wild canids. PMID:30371881
CADD: predicting the deleteriousness of variants throughout the human genome. PMID:30371827
Population data improves variant interpretation in autosomal dominant polycystic kidney disease. PMID:30369598
Artificial Intelligence Approach for Variant Reporting. PMID:30364844
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. PMID:30361506
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer. PMID:30348992
Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next-generation sequencing. PMID:30344693
Characterization of Nigerian breast cancer reveals prevalent homologous recombination deficiency and aggressive molecular features. PMID:30327465
ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls. PMID:30325923
Identification of Lynch syndrome risk variants in the Romanian population. PMID:30324682
Mutations in PERP Cause Dominant and Recessive Keratoderma. PMID:30321533
The Genomic Basis of Tumor Regression in Tasmanian Devils (Sarcophilus harrisii). PMID:30321343
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree. PMID:30315151
Predicting variant deleteriousness in non-human species: applying the CADD approach in mouse. PMID:30314430
Pan-tumor genomic biomarkers for PD-1 checkpoint blockade-based immunotherapy. PMID:30309915
Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H. PMID:30309378
Framework for microRNA variant annotation and prioritization using human population and disease datasets. PMID:30302893
Haplosaurus computes protein haplotypes for use in precision drug design. PMID:30297836
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. PMID:30293990
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. PMID:30279455
A rare missense variant in NR1H4 associates with lower cholesterol levels. PMID:30271901
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. PMID:30270359
Epidermal Tissue Adapts to Restrain Progenitors Carrying Clonal p53 Mutations. PMID:30269904
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. PMID:30269813
Genome-Informed Targeted Therapy for Osteosarcoma. PMID:30266815
Impact of structural prior knowledge in SNV prediction: Towards causal variant finding in rare disease. PMID:30265692
Genome-wide association study and prediction of genomic breeding values for fatty-acid composition in Korean Hanwoo cattle using a high-density single-nucleotide polymorphism array. PMID:30265318
A weighted burden test using logistic regression for integrated analysis of sequence variants, copy number variants and polygenic risk score. PMID:30258123
Microenvironmental niche divergence shapes BRCA1-dysregulated ovarian cancer morphological plasticity. PMID:30254278
Exome sequencing study of 20 patients with high myopia. PMID:30245926
Functional Genetic Variants Revealed by Massively Parallel Precise Genome Editing. PMID:30245013
Hierarchical Organization Endows the Kinase Domain with Regulatory Plasticity. PMID:30243563
ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci. PMID:30239796
A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. PMID:30235266
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. PMID:30231021
Variation in abundance of predicted resistance genes in the Brassica oleracea pangenome. PMID:30230187
Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas. PMID:30217226
Screening the full leucocyte receptor complex genomic region revealed associations with pemphigus that might be explained by gene regulation. PMID:30216441
AWESOME: a database of SNPs that affect protein post-translational modifications. PMID:30215764
ARIADNA: machine learning method for ancient DNA variant discovery. PMID:30215675
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. PMID:30208423
Turning Vice into Virtue: Using Batch-Effects to Detect Errors in Large Genomic Data Sets. PMID:30204860
Different patterns of clonal evolution among different sarcoma subtypes followed for up to 25 years. PMID:30201954
Prioritizing candidate genes post-GWAS using multiple sources of data for mastitis resistance in dairy cattle. PMID:30189836
A machine learning approach for somatic mutation discovery. PMID:30185652
Meta-analysis of exome array data identifies six novel genetic loci for lung function. PMID:30175238
A Comprehensive Map of Genetic Variation in the World's Largest Ethnic Group-Han Chinese. PMID:30169787
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease. PMID:30167848
Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. PMID:30166351
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome. PMID:30165906
A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours. PMID:30157243
The germline genetic component of drug sensitivity in cancer cell lines. PMID:30139972
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update. PMID:30129167
Molecular analysis of gastric cancer identifies genomic markers of drug sensitivity in Asian gastric cancer. PMID:30123366
Mapping adult plant stem rust resistance in barley accessions Hietpas-5 and GAW-79. PMID:30109391
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. PMID:30109124
Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma. PMID:30107175
Identification of induced mutations in hexaploid wheat genome using exome capture assay. PMID:30102729
CharGer: clinical Characterization of Germline variants. PMID:30102335
A novel deep targeted sequencing method for minimal residual disease monitoring in acute myeloid leukemia. PMID:30093399
ASXL2 regulates hematopoiesis in mice and its deficiency promotes myeloid expansion. PMID:30093396
Realizing the significance of noncoding functionality in clinical genomics. PMID:30089779
Resistance to the Plant Defensin NaD1 Features Modifications to the Cell Wall and Osmo-Regulation Pathways of Yeast. PMID:30087664
Natural Genetic Variation in a Multigenerational Phenotype in C. elegans. PMID:30078564
Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. PMID:30061609
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility. PMID:30042735
Salt-sensitive (Rapp) rats from Envigo spontaneously develop accelerated hypertension independent of ovariectomy on a low-sodium diet. PMID:30024774
Genetics of trans-regulatory variation in gene expression. PMID:30014850
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? PMID:30014597
Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. PMID:30013184
Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging. PMID:30002152
Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes. PMID:29999516
The association of genomic lesions and PD-1/PD-L1 expression in resected triple-negative breast cancers. PMID:29996881
Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis. PMID:29995946
Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability. PMID:29991773
Functional Partitioning of Genomic Variance and Genome-Wide Association Study for Carcass Traits in Korean Hanwoo Cattle Using Imputed Sequence Level SNP Data. PMID:29988410
Loose ends: almost one in five human genes still have unresolved coding status. PMID:29982784
A characterization of postzygotic mutations identified in monozygotic twins. PMID:29980163
Next-generation sequencing profiling of mitochondrial genomes in gout. PMID:29976239
Genome variants associated with RNA splicing variations in bovine are extensively shared between tissues. PMID:29973141
Genome-wide association study of nocturnal blood pressure dipping in hypertensive patients. PMID:29973135
Mutational Analysis Identifies Therapeutic Biomarkers in Inflammatory Bowel Disease-Associated Colorectal Cancers. PMID:29950348
Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication. PMID:29950181
Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B. PMID:29948332
A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. PMID:29945969
Experimental evidence for rapid genomic adaptation to a new niche in an adaptive radiation. PMID:29942074
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. PMID:29934635
A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chicken. PMID:29930570
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. PMID:29909963
Cancer-mutation network and the number and specificity of driver mutations. PMID:29895694
Systematic Mendelian randomization framework elucidates hundreds of CpG sites which may mediate the influence of genetic variants on disease. PMID:29893838
Multi-ethnic genome-wide association study for atrial fibrillation. PMID:29892015
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. PMID:29884787
Germline mutation of CHEK2 in neurofibromatosis 1 and 2: Two case reports. PMID:29879026
Clinical activity and molecular correlates of response to atezolizumab alone or in combination with bevacizumab versus sunitinib in renal cell carcinoma. PMID:29867230
Genetic Modifiers of the Breast Tumor Microenvironment. PMID:29860987
VarAFT: a variant annotation and filtration system for human next generation sequencing data. PMID:29860484
Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci. PMID:29860282
Patient Similarity Networks for Precision Medicine. PMID:29860027
Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency. PMID:29859120
Identification and annotation of breed-specific single nucleotide polymorphisms in Bos taurus genomes. PMID:29856873
Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome. PMID:29855388
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. PMID:29805042
Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations. PMID:29796643
Genomic Variation Among and Within Six Juglans Species. PMID:29792315
Measuring coverage and accuracy of whole-exome sequencing in clinical context. PMID:29789557
GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits. PMID:29771388
VAReporter: variant reporter for cancer research of massive parallel sequencing. PMID:29764369
SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine. PMID:29757393
Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD). PMID:29755507
Dissecting closely linked association signals in combination with the mammalian phenotype database can identify candidate genes in dairy cattle. PMID:29751743
Genome-wide and high-density CRISPR-Cas9 screens identify point mutations in PARP1 causing PARP inhibitor resistance. PMID:29748565
Burly1 is a mouse QTL for lean body mass that maps to a 0.8-Mb region of chromosome 2. PMID:29737391
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. PMID:29737008
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection. PMID:29725052
Human local adaptation of the TRPM8 cold receptor along a latitudinal cline. PMID:29723195
Multi-omics profiling of younger Asian breast cancers reveals distinctive molecular signatures. PMID:29713003
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. PMID:29706352
Whole exome sequencing reveals rare variants linked to congenital pouch colon. PMID:29703930
Predicting gene structure changes resulting from genetic variants via exon definition features. PMID:29701825
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. PMID:29691392
Integrative Bioinformatics Approaches for Identification of Drug Targets in Hypertension. PMID:29670885
Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci. PMID:29662110
Genotyping of Plasmodiophora brassicae reveals the presence of distinct populations. PMID:29661147
A survey of functional genomic variation in domesticated chickens. PMID:29661130
Population-level distribution and putative immunogenicity of cancer neoepitopes. PMID:29653567
The Immune Landscape of Cancer. PMID:29628290
Pathogenic Germline Variants in 10,389 Adult Cancers. PMID:29625052
From SNPs to pathways: Biological interpretation of type 2 diabetes (T2DM) genome wide association study (GWAS) results. PMID:29617380
Finding cancer driver mutations in the era of big data research. PMID:29611034
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger. PMID:29606303
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response. PMID:29604063
Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. PMID:29596782
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. PMID:29590070
Genetic variants in mRNA untranslated regions. PMID:29582564
Methotrexate sensitizes drug-resistant metastatic melanoma cells to BRAF V600E inhibitors dabrafenib and encorafenib. PMID:29568360
Weighted Burden Analysis of Exome-Sequenced Case-Control Sample Implicates Synaptic Genes in Schizophrenia Aetiology. PMID:29564678
The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia. PMID:29556024
Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA. PMID:29547634
Rare variants in drug target genes contributing to complex diseases, phenome-wide. PMID:29545597
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. PMID:29543232
A Flow Cytometry-Based Phenotypic Screen To Identify Novel Endocytic Factors in Saccharomyces cerevisiae. PMID:29540444
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. PMID:29539190
Translocon Declogger Ste24 Protects against IAPP Oligomer-Induced Proteotoxicity. PMID:29526462
Convergent genomic signatures of domestication in sheep and goats. PMID:29511174
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. PMID:29500241
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. PMID:29499165
In Vivo E2F Reporting Reveals Efficacious Schedules of MEK1/2-CDK4/6 Targeting and mTOR-S6 Resistance Mechanisms. PMID:29496664
Mutations in DNA repair genes are associated with increased neo-antigen load and activated T cell infiltration in lung adenocarcinoma. PMID:29487705
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. PMID:29486463
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. PMID:29477724
Somatic mutagenesis in satellite cells associates with human skeletal muscle aging. PMID:29476074
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. PMID:29473246
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. PMID:29472286
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. PMID:29463886
Mendelian Disease Associations Reveal Novel Insights into Inflammatory Bowel Disease. PMID:29462399
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. PMID:29449551
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. PMID:29449315
Risk category system to identify pituitary adenoma patients with AIP mutations. PMID:29440248
A phenotype centric benchmark of variant prioritisation tools. PMID:29423277
Estimating the mutational load for cardiovascular diseases in Pakistani population. PMID:29420653
Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale. PMID:29409527
Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease. PMID:29408806
Paediatric genomics: diagnosing rare disease in children. PMID:29398702
Unravelling genetic variation underlying de novo-synthesis of bovine milk fatty acids. PMID:29391528
Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort. PMID:29391395
Genomic Region Containing Toll-Like Receptor Genes Has a Major Impact on Total IgM Antibodies Including KLH-Binding IgM Natural Antibodies in Chickens. PMID:29375555
Genomic diversity and population structure of three autochthonous Greek sheep breeds assessed with genome-wide DNA arrays. PMID:29372305
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. PMID:29369293
Pleiotropic alterations in gene expression in Latin American Fasciola hepatica isolates with different susceptibility to drugs. PMID:29368659
Population genetic diversity in zebrafish lines. PMID:29368091
Molecular-genetic profiling and high-throughput in vitro drug screening in NUT midline carcinoma-an aggressive and fatal disease. PMID:29348827
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data. PMID:29334895
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. PMID:29323667
Targeting immune checkpoints potentiates immunoediting and changes the dynamics of tumor evolution. PMID:29296022
Genome variation and conserved regulation identify genomic regions responsible for strain specific phenotypes in rat. PMID:29272997
Personal Cancer Genome Reporter: variant interpretation report for precision oncology. PMID:29272339
CDKL5 variants: Improving our understanding of a rare neurologic disorder. PMID:29264392
Mosaic mutations in blood DNA sequence are associated with solid tumor cancers. PMID:29263833
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. PMID:29257133
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework. PMID:29254494
A comprehensive genomic meta-analysis identifies confirmatory role of OBSCN gene in breast tumorigenesis. PMID:29254242
Informatics for cancer immunotherapy. PMID:29253114
DNA and RNA-sequence based GWAS highlights membrane-transport genes as key modulators of milk lactose content. PMID:29246110
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. PMID:29243736
Deciphering the genetic regulation of peripheral blood transcriptome in pigs through expression genome-wide association study and allele-specific expression analysis. PMID:29237423
A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family. PMID:29234170
Trauma exposure interacts with the genetic risk of bipolar disorder in alcohol misuse of US soldiers. PMID:29230810
Houston Methodist Variant Viewer: An Application to Support Clinical Laboratory Interpretation of Next-generation Sequencing Data for Cancer. PMID:29226007
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients. PMID:29216901
A PLAG1 mutation contributed to stature recovery in modern cattle. PMID:29215042
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population. PMID:29213121
Autosomal and Mitochondrial Adaptation Following Admixture: A Case Study on the Honeybees of Reunion Island. PMID:29202174
An Unexpectedly Complex Architecture for Skin Pigmentation in Africans. PMID:29195075
Adiposity QTL Adip20 decomposes into at least four loci when dissected using congenic strains. PMID:29194435
Comparative genomics reveals that loss of lunatic fringe (LFNG) promotes melanoma metastasis. PMID:29193607
Histamine H2 Receptor Polymorphisms, Myocardial Transcripts, and Heart Failure (from the Multi-Ethnic Study of Atherosclerosis and Beta-Blocker Effect on Remodeling and Gene Expression Trial). PMID:29191567
Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. PMID:29186694
Functional mapping and annotation of genetic associations with FUMA. PMID:29184056
Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease. PMID:29181857
Rare non-coding variants are associated with plasma lipid traits in a founder population. PMID:29180722
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. PMID:29179779
Genome-wide association studies of fertility and calving traits in Brown Swiss cattle using imputed whole-genome sequences. PMID:29178833
The Diversity of REcent and Ancient huMan (DREAM): A New Microarray for Genetic Anthropology and Genealogy, Forensics, and Personalized Medicine. PMID:29165562
Ensembl 2018. PMID:29155950
Identification of Pleiotropic Cancer Susceptibility Variants from Genome-Wide Association Studies Reveals Functional Characteristics. PMID:29150481
Spontaneous development of Epstein-Barr Virus associated human lymphomas in a prostate cancer xenograft program. PMID:29145505
Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus. PMID:29142228
Identification of unique neoantigen qualities in long-term survivors of pancreatic cancer. PMID:29132146
Fitness Costs and Variation in Transmission Distortion Associated with the Abnormal Chromosome 10 Meiotic Drive System in Maize. PMID:29122827
Meta-analysis of sequence-based association studies across three cattle breeds reveals 25 QTL for fat and protein percentages in milk at nucleotide resolution. PMID:29121857
VarCards: an integrated genetic and clinical database for coding variants in the human genome. PMID:29112736
Reduced mutation rate in exons due to differential mismatch repair. PMID:29106418
Full-gene haplotypes refine CYP2D6 metabolizer phenotype inferences. PMID:29075918
Genome Variation Map: a data repository of genome variations in BIG Data Center. PMID:29069473
A Review of Recent Advances in Translational Bioinformatics: Bridges from Biology to Medicine. PMID:29063562
Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy. PMID:29051540
Clonal Heterogeneity Influences the Fate of New Adaptive Mutations. PMID:29045840
Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease. PMID:29045054
Exploiting whole genome sequence data to fine map and characterize candidate genes within a quantitative trait loci region affecting androstenone on porcine chromosome 5. PMID:29034488
The impact of rare variation on gene expression across tissues. PMID:29022581
Fine mapping of a QTL affecting levels of skatole on pig chromosome 7. PMID:29020941
Signatures of Selection and Interspecies Introgression in the Genome of Chinese Domestic Pigs. PMID:29016799
Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk. PMID:28985495
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans. PMID:28985494
Genome-wide mapping of large deletions and their population-genetic properties in dairy cattle. PMID:28985340
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. PMID:28982372
Resources for Interpreting Variants in Precision Genomic Oncology Applications. PMID:28975082
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. PMID:28972005
FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. PMID:28968714
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions. PMID:28967166
Within-breed and multi-breed GWAS on imputed whole-genome sequence variants reveal candidate mutations affecting milk protein composition in dairy cattle. PMID:28923017
CScape: a tool for predicting oncogenic single-point mutations in the cancer genome. PMID:28912487
Neuregulin signaling pathway in smoking behavior. PMID:28892072
FUT2 non-secretor status is associated with altered susceptibility to symptomatic enterotoxigenic Escherichia coli infection in Bangladeshis. PMID:28878367
Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. PMID:28869591
Genome-wide comparative analyses of correlated and uncorrelated phenotypes identify major pleiotropic variants in dairy cattle. PMID:28835686
Genetic Screen for Postembryonic Development in the Zebrafish (Danio rerio): Dominant Mutations Affecting Adult Form. PMID:28835471
Integrated Genomic Characterization of Pancreatic Ductal Adenocarcinoma. PMID:28810144
Loss of the chromatin modifier Kdm2aa causes BrafV600E-independent spontaneous melanoma in zebrafish. PMID:28806732
Settling the score: variant prioritization and Mendelian disease. PMID:28804138
Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics. PMID:28797091
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. PMID:28777931
Exploring public genomics data for population pharmacogenomics. PMID:28771511
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines. PMID:28716134
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. PMID:28714225
Gramene Database: Navigating Plant Comparative Genomics Resources. PMID:28713666
Interferon-related genetic markers of necroinflammatory activity in chronic hepatitis C. PMID:28704535
Platelet function is modified by common sequence variation in megakaryocyte super enhancers. PMID:28703137
Quantifying the Impact of Non-coding Variants on Transcription Factor-DNA Binding. PMID:28691125
The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family. PMID:28690860
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases. PMID:28669401
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia. PMID:28667000
Signatures of Selection for Environmental Adaptation and Zebu × Taurine Hybrid Fitness in East African Shorthorn Zebu. PMID:28642786
Systematic design and comparison of expanded carrier screening panels. PMID:28640244
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding. PMID:28637664
Prediction and analysis of three gene families related to leaf rust (Puccinia triticina) resistance in wheat (Triticum aestivum L.). PMID:28633642
TIminer: NGS data mining pipeline for cancer immunology and immunotherapy. PMID:28633385
Reduction in Migratory Phenotype in a Metastasized Breast Cancer Cell Line via Downregulation of S100A4 and GRM3. PMID:28615627
Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls. PMID:28606096
GenomeHubs: simple containerized setup of a custom Ensembl database and web server for any species. PMID:28605774
Genetics of Genome-Wide Recombination Rate Evolution in Mice from an Isolated Island. PMID:28576862
Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data. PMID:28575251
Genome annotation for clinical genomic diagnostics: strengths and weaknesses. PMID:28558813
PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics. PMID:28552549
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. PMID:28537274
Resistance to malaria through structural variation of red blood cell invasion receptors. PMID:28522690
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data. PMID:28520890
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. PMID:28511696
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. PMID:28497567
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer. PMID:28487881
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites. PMID:28475858
A comparative analysis of whole genome sequencing of esophageal adenocarcinoma pre- and post-chemotherapy. PMID:28465312
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization. PMID:28454514
VEXOR: an integrative environment for prioritization of functional variants in fine-mapping analysis. PMID:28453673
SMRT genome assembly corrects reference errors, resolving the genetic basis of virulence in Mycobacterium tuberculosis. PMID:28415976
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel. PMID:28401899
Cancer Immunogenomics: Computational Neoantigen Identification and Vaccine Design. PMID:28389595
Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder. PMID:28388406
A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility. PMID:28384278
Functional implications of Neandertal introgression in modern humans. PMID:28366169
Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia. PMID:28357044
Enhancing knowledge discovery from cancer genomics data with Galaxy. PMID:28327945
Organic Cation Transporter 2 (OCT2/SLC22A2) Gene Variation in the South African Bantu-Speaking Population and Functional Promoter Variants. PMID:28253084
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. PMID:28251733
One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. PMID:28235832
Big Data Analytics for Genomic Medicine. PMID:28212287
BCFtools/csq: haplotype-aware variant consequences. PMID:28205675
Variant discovery in the sheep milk transcriptome using RNA sequencing. PMID:28202015
Genotoxic Effects of Culture Media on Human Pluripotent Stem Cells. PMID:28176872
Genomic analysis and clinical management of adolescent cutaneous melanoma. PMID:28097802
Uncovering hidden variation in polyploid wheat. PMID:28096351
Genomics pipelines and data integration: challenges and opportunities in the research setting. PMID:28092471
High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE. PMID:28011790
easyGWAS: A Cloud-Based Platform for Comparing the Results of Genome-Wide Association Studies. PMID:27986896
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. PMID:27924018
Open Targets: a platform for therapeutic target identification and validation. PMID:27899665
The ExAC browser: displaying reference data information from over 60 000 exomes. PMID:27899611
Ensembl 2017. PMID:27899575
WormBase ParaSite - a comprehensive resource for helminth genomics. PMID:27899279
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. PMID:27863252
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. PMID:27796292
The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations. PMID:27789569
The state of play in higher eukaryote gene annotation. PMID:27773922
Mitochondrial heteroplasmy in vertebrates using ChIP-sequencing data. PMID:27349964
Ensembl 2018 PubMed citations: 1288.

1288 articles citing: Ensembl 2018

Evolution and developmental expression of the sodium-iodide symporter (NIS, slc5a5) gene family: Implications for perchlorate toxicology. PMID:35899258
Phytohormones and Transcriptome Analyses Revealed the Dynamics Involved in Spikelet Abortion and Inflorescence Development in Rice. PMID:35887236
DNA methylation dynamics and dysregulation delineated by high-throughput profiling in the mouse. PMID:35873672
Follistatin-like 1 and its paralogs in heart development and cardiovascular disease. PMID:35867287
Evaluation of Epidermal Growth Factor Receptor Gene Mutations in an Iranian Population with Non-Small Cell Lung Carcinoma. PMID:35866114
A brain precursor atlas reveals the acquisition of developmental-like states in adult cerebral tumours. PMID:35853870
Time and phenotype-dependent transcriptome analysis in AAV-TGFβ1 and Bleomycin-induced lung fibrosis models. PMID:35842487
Functional Variants Associated With CMPK2 and in ASB16 Influence Bovine Digital Dermatitis. PMID:35832195
Gene function prediction in five model eukaryotes exclusively based on gene relative location through machine learning. PMID:35803984
Investigating the shared genetic architecture of uterine leiomyoma and breast cancer: A genome-wide cross-trait analysis. PMID:35803233
Gasdermins in Innate Host Defense Against Entamoeba histolytica and Other Protozoan Parasites. PMID:35795683
Multiomic atlas with functional stratification and developmental dynamics of zebrafish cis-regulatory elements. PMID:35789323
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A. PMID:35782621
Maternal gut microbiota Bifidobacterium promotes placental morphogenesis, nutrient transport and fetal growth in mice. PMID:35760917
Oxytocin and vasotocin receptor variation and the evolution of human prosociality. PMID:35757177
Mesenchymal stromal cells cultured in physiological conditions sustain citrate secretion with glutamate anaplerosis. PMID:35752287
A Quantitative Systems Pharmacology Platform Reveals NAFLD Pathophysiological States and Targeting Strategies. PMID:35736460
Electrical stimulation of the splenic nerve bundle ameliorates dextran sulfate sodium-induced colitis in mice. PMID:35715845
The hypoxia-induced changes in miRNA-mRNA in RNA-induced silencing complexes and HIF-2 induced miRNAs in human endothelial cells. PMID:35713587
EnhFFL: A database of enhancer mediated feed-forward loops for human and mouse. PMID:35694152
MicroRNAs and other small RNAs in Aedes aegypti saliva and salivary glands following chikungunya virus infection. PMID:35681077
tRForest: a novel random forest-based algorithm for tRNA-derived fragment target prediction. PMID:35664803
Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes. PMID:35656234
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. PMID:35651951
Application of blood brain barrier models in pre-clinical assessment of glioblastoma-targeting CAR-T based immunotherapies. PMID:35650594
Using all Gene Families Vastly Expands Data Available for Phylogenomic Inference. PMID:35642314
3D genome organization in the epithelial-mesenchymal transition spectrum. PMID:35637517
The HDAC inhibitor CI-994 acts as a molecular memory aid by facilitating synaptic and intracellular communication after learning. PMID:35613054
Genetically regulated gene expression and proteins revealed discordant effects. PMID:35604899
Genetic differentiation in East African ethnicities and its relationship with endurance running success. PMID:35588128
Novel MicroRNA-Regulated Transcript Networks Are Associated with Chemotherapy Response in Ovarian Cancer. PMID:35563265
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies. PMID:35562925
Structural dynamics shape the fitness window of alanine:glyoxylate aminotransferase. PMID:35481644
Mycobacterium tuberculosis Transcription Factor EmbR Regulates the Expression of Key Virulence Factors That Aid in Ex Vivo and In Vivo Survival. PMID:35471080
Interferon-induced transmembrane protein 3 gene polymorphisms are associated with COVID-19 susceptibility and severity: A meta-analysis. PMID:35461906
Comprehensive Characterization of Platelet-Enriched MicroRNAs as Biomarkers of Platelet Activation. PMID:35455934
Integrated In Silico Analyses Identify PUF60 and SF3A3 as New Spliceosome-Related Breast Cancer RNA-Binding Proteins. PMID:35453681
Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients. PMID:35451015
Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis. PMID:35443721
Genome-wide investigations reveal the population structure and selection signatures of Nigerian cattle adaptation in the sub-Saharan tropics. PMID:35428239
Transcriptome analysis of long noncoding RNAs reveals their potential roles in anthracycline-induced cardiotoxicity. PMID:35415316
Genomic changes underlying repeated niche shifts in an adaptive radiation. PMID:35398888
Postnatal state transition of cardiomyocyte as a primary step in heart maturation. PMID:35394262
Clinical implementation of RNA sequencing for Mendelian disease diagnostics. PMID:35379322
Inter-paralog amino acid inversion events in large phylogenies of duplicated proteins. PMID:35377869
A Novel Deep Learning Method to Predict Lung Cancer Long-Term Survival With Biological Knowledge Incorporated Gene Expression Images and Clinical Data. PMID:35368657
Oryza-Specific Orphan Protein Triggers Enhanced Resistance to Xanthomonas oryzae pv. oryzae in Rice. PMID:35360326
Chicken Peripheral Blood Mononuclear Cells Response to Avian Leukosis Virus Subgroup J Infection Assessed by Single-Cell RNA Sequencing. PMID:35359721
VEGFA-targeting miR-agshRNAs combine efficacy with specificity and safety for retinal gene therapy. PMID:35356684
Impact of gene annotation choice on the quantification of RNA-seq data. PMID:35354358
Modelling the genetic aetiology of complex disease: human-mouse conservation of noncoding features and disease-associated loci. PMID:35317627
Class I/Class II HLA Evolutionary Divergence Ratio Is an Independent Marker Associated With Disease-Free and Overall Survival After Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia. PMID:35309346
A Proposed TUSC7/miR-211/Nurr1 ceRNET Might Potentially be Disturbed by a cer-SNP rs2615499 in Breast Cancer. PMID:35296964
Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme. PMID:35296311
Swelling-induced upregulation of miR-141-3p inhibits hepatocyte proliferation. PMID:35287291
Splice Junction Identification using Long Short-Term Memory Neural Networks. PMID:35283668
Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes. PMID:35279219
Expression variations in ectodysplasin-A gene (eda) may contribute to morphological divergence of scales in haplochromine cichlids. PMID:35272610
TSPO Deficiency Exacerbates GSDMD-Mediated Macrophage Pyroptosis in Inflammatory Bowel Disease. PMID:35269479
Pum2 and TDP-43 refine area-specific cytoarchitecture post-mitotically and modulate translation of Sox5, Bcl11b, and Rorb mRNAs in developing mouse neocortex. PMID:35262486
Targeting Metabolic Adaptations in the Breast Cancer-Liver Metastatic Niche Using Dietary Approaches to Improve Endocrine Therapy Efficacy. PMID:35259269
Enhanced pro-apoptosis gene signature following the activation of TAp63α in oocytes upon γ irradiation. PMID:35246516
Characterizing mobile element insertions in 5675 genomes. PMID:35212372
Identifying Mitotic Kinesins as Potential Prognostic Biomarkers in Ovarian Cancer Using Bioinformatic Analyses. PMID:35204562
EZH2 Mediates Proliferation, Migration, and Invasion Promoted by Estradiol in Human Glioblastoma Cells. PMID:35197928
Exosomal miRNAs from Prostate Cancer Impair Osteoblast Function in Mice. PMID:35163219
A MicroRNA Next-Generation-Sequencing Discovery Assay (miND) for Genome-Scale Analysis and Absolute Quantitation of Circulating MicroRNA Biomarkers. PMID:35163149
Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration. PMID:35139363
Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes. PMID:35121966
Mutational landscape influences immunotherapy outcomes among patients with non-small-cell lung cancer with human leukocyte antigen supertype B44. PMID:35121931
Sex and genetic background define the metabolic, physiologic, and molecular response to protein restriction. PMID:35108511
Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. PMID:35105718
Amphioxus muscle transcriptomes reveal vertebrate-like myoblast fusion genes and a highly conserved role of insulin signalling in the metabolism of muscle. PMID:35105312
Novel Classes and Evolutionary Turnover of Histone H2B Variants in the Mammalian Germline. PMID:35099534
Analysis of LINE1 Retrotransposons in Huntington's Disease. PMID:35095420
Dihydromyricetin alleviates Escherichia coli lipopolysaccharide-induced hepatic injury in chickens by inhibiting the NLRP3 inflammasome. PMID:35073994
Susceptibility to disease (tropical theileriosis) is associated with differential expression of host genes that possess motifs recognised by a pathogen DNA binding protein. PMID:35061738
Novel Transcriptional and Translational Biomarkers of Tularemia Vaccine Efficacy in a Mouse Inhalation Model: Proof of Concept. PMID:35056485
Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas. PMID:35053433
Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models. PMID:35052430
Dicer dependent tRNA derived small RNAs promote nascent RNA silencing. PMID:35048990
The QChip1 knowledgebase and microarray for precision medicine in Qatar. PMID:35046417
Detecting selection using extended haplotype homozygosity (EHH)-based statistics in unphased or unpolarized data. PMID:35041674
SpeciesRax: A Tool for Maximum Likelihood Species Tree Inference from Gene Family Trees under Duplication, Transfer, and Loss. PMID:35021210
Endothelial and systemic upregulation of miR-34a-5p fine-tunes senescence in progeria. PMID:35020601
De novo mutations identified by whole-genome sequencing implicate chromatin modifications in obsessive-compulsive disorder. PMID:35020433
Gut microbes shape microglia and cognitive function during malnutrition. PMID:35019164
The impact of methodology on the reproducibility and rigor of DNA methylation data. PMID:35013473
miR-511 Deficiency Protects Mice from Experimental Colitis by Reducing TLR3 and TLR4 Responses via WD Repeat and FYVE-Domain-Containing Protein 1. PMID:35011620
Dysregulation of interaction between LOXhigh fibroblast and smooth muscle cells contributes to the pathogenesis of aortic dissection. PMID:34976220
Gene Regulation Analysis Reveals Perturbations of Autism Spectrum Disorder during Neural System Development. PMID:34946850
Changes in Biceps femoris Transcriptome along Growth in Iberian Pigs Fed Different Energy Sources and Comparative Analysis with Duroc Breed. PMID:34944282
Ion Channel and Ubiquitin Differential Expression during Erythromycin-Induced Anhidrosis in Foals. PMID:34944156
Circular RNA ZNF609/CKAP5 mRNA interaction regulates microtubule dynamics and tumorigenicity. PMID:34942120
Long-range promoter-enhancer contacts are conserved during evolution and contribute to gene expression robustness. PMID:34930799
Age-dependent expression changes of circadian system-related genes reveal a potentially conserved link to aging. PMID:34923482
Contrasting gene-level signatures of selection with reproductive fitness. PMID:34918851
The long non-coding RNA landscape of Candida yeast pathogens. PMID:34916523
Ribo-Seq and RNA-Seq of TMA46 ( DFRP1) and GIR2 ( DFRP2) knockout yeast strains. PMID:34900236
Analysis of Eukaryotic lincRNA Sequences Indicates Signatures of Hindered Translation Linked to Selection Pressure. PMID:34897509
Distinct small non-coding RNA landscape in the axons and released extracellular vesicles of developing primary cortical neurons and the axoplasm of adult nerves. PMID:34882524
Deep resequencing identifies candidate functional genes in leprosy GWAS loci. PMID:34879060
Weighted Cox regression for the prediction of heterogeneous patient subgroups. PMID:34876106
Whole transcriptome analysis of high and low IFN-α producers reveals differential response patterns following rhinovirus stimulation. PMID:34868584
LncRNAs Associated with Chemoradiotherapy Response and Prognosis in Locally Advanced Rectal Cancer. PMID:34866926
The Transcriptional Differences of Avian CD4+CD8+ Double-Positive T Cells and CD8+ T Cells From Peripheral Blood of ALV-J Infected Chickens Revealed by Smart-Seq2. PMID:34858872
Decoding the effects of synonymous variants. PMID:34850938
Accurate expression quantification from nanopore direct RNA sequencing with NanoCount. PMID:34850115
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India. PMID:34849271
Deletion of pancreas-specific miR-216a reduces beta-cell mass and inhibits pancreatic cancer progression in mice. PMID:34841287
NogoA-expressing astrocytes limit peripheral macrophage infiltration after ischemic brain injury in primates. PMID:34824275
Sex-Specific Causal Relations between Steroid Hormones and Obesity-A Mendelian Randomization Study. PMID:34822396
Lipidomics and Redox Lipidomics Indicate Early Stage Alcohol-Induced Liver Damage. PMID:34811964
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay. PMID:34805998
Single-cell RNA sequencing reveals differential cell cycle activity in key cell populations during nephrogenesis. PMID:34789782
Comprehensive analysis of competitive endogenous RNAs networks reveals potential prognostic biomarkers associated with epithelial ovarian cancer. PMID:34777587
First report of mitochondrial COI in foraminifera and implications for DNA barcoding. PMID:34772985
Discovery of putative tumor suppressors from CRISPR screens reveals rewired lipid metabolism in acute myeloid leukemia cells. PMID:34764293
Association of cardiometabolic microRNAs with COVID-19 severity and mortality. PMID:34755842
The similarity of class II HLA genotypes defines patterns of autoreactivity in idiopathic bone marrow failure disorders. PMID:34748628
Proteasome inhibition alters mitotic progression through the upregulation of centromeric α-Satellite RNAs. PMID:34739170
Improved prediction of immune checkpoint blockade efficacy across multiple cancer types. PMID:34725502
Complex Age- and Cancer-Related Changes in Human Blood Transcriptome-Implications for Pan-Cancer Diagnostics. PMID:34721535
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci. PMID:34711957
p53 Forms Redox-Dependent Protein-Protein Interactions through Cysteine 277. PMID:34679713
ANT2 drives proinflammatory macrophage activation in obesity. PMID:34676827
Disrupted circadian oscillations in type 2 diabetes are linked to altered rhythmic mitochondrial metabolism in skeletal muscle. PMID:34669477
A genetic determinant of VEGF-A levels is associated with telomere attrition. PMID:34661551
RBFOX splicing factors contribute to a broad but selective recapitulation of peripheral tissue splicing patterns in the thymus. PMID:34649931
Segmentation and genome annotation algorithms for identifying chromatin state and other genomic patterns. PMID:34648491
The Safe Path at the Fork: Ensuring Replication-Associated DNA Double-Strand Breaks are Repaired by Homologous Recombination. PMID:34646312
Selective Extracellular Signal-Regulated Kinase 1/2 (ERK1/2) Inhibition by the SCH772984 Compound Attenuates In Vitro and In Vivo Inflammatory Responses and Prolongs Survival in Murine Sepsis Models. PMID:34638546
Genome-wide mRNA profiling identifies X-box-binding protein 1 (XBP1) as an IRE1 and PUMA repressor. PMID:34636989
Diverse functional elements in RNA predicted transcriptome-wide by orthogonal RNA structure probing. PMID:34634799
p53-mediated redox control promotes liver regeneration and maintains liver function in response to CCl4. PMID:34628485
miR profile in pagetic osteoclasts: from large-scale sequencing to gene expression study. PMID:34609560
A standard knockout procedure alters expression of adjacent loci at the translational level. PMID:34606617
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy. PMID:34598319
Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2. PMID:34590679
CAMPAREE: a robust and configurable RNA expression simulator. PMID:34563123
Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor. PMID:34559564
tiRNA signaling via stress-regulated vesicle transfer in the hematopoietic niche. PMID:34551362
SmProt: A Reliable Repository with Comprehensive Annotation of Small Proteins Identified from Ribosome Profiling. PMID:34536568
Trypanosoma brucei triggers a broad immune response in the adipose tissue. PMID:34525131
Genomics and metabolomics of early-stage thioacetamide-induced liver injury: An interspecies study between guinea pig and rat. PMID:34492290
Single-minded 2 is required for left-right asymmetric stomach morphogenesis. PMID:34486651
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. PMID:34475573
Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption. PMID:34469537
Evidence for and localization of proposed causative variants in cattle and pig genomes. PMID:34461824
A Missense Mutation in the MYBPH Gene Is Associated With Abdominal Fat Traits in Meat-Type Chickens. PMID:34456973
A Genome-Wide CRISPR/Cas9 Screen Reveals the Requirement of Host Sphingomyelin Synthase 1 for Infection with Pseudorabies Virus Mutant gD-Pass. PMID:34452438
CEACAM Gene Family Mutations Associated With Inherited Breast Cancer Risk - A Comparative Oncology Approach to Discovery. PMID:34447411
Identifying novel transcript biomarkers for hepatocellular carcinoma (HCC) using RNA-Seq datasets and machine learning. PMID:34445986
Chromatin Structure and "DNA Sequence View": The Role of Satellite DNA in Ectopic Pairing of the Drosophila X Polytene Chromosome. PMID:34445413
A Y-linked anti-Müllerian hormone type-II receptor is the sex-determining gene in ayu, Plecoglossus altivelis. PMID:34437539
Ecological Specialization and Evolutionary Reticulation in Extant Hyaenidae. PMID:34426844
Searchlight: automated bulk RNA-seq exploration and visualisation using dynamically generated R scripts. PMID:34412594
Genome-Wide Association Study Using Whole-Genome Sequencing Identifies a Genomic Region on Chromosome 6 Associated With Comb Traits in Nandan-Yao Chicken. PMID:34408769
Long noncoding RNA landscapes specific to benign and malignant thyroid neoplasms of distinct histological subtypes. PMID:34408227
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country. PMID:34395220
Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records. PMID:34385667
Molecular Evolution of Ultraviolet Visual Opsins and Spectral Tuning of Photoreceptors in Anemonefishes (Amphiprioninae). PMID:34375382
MAIT cells regulate NK cell-mediated tumor immunity. PMID:34362900
FLAME: A Web Tool for Functional and Literature Enrichment Analysis of Multiple Gene Lists. PMID:34356520
Association between the lipoprotein lipase rs1534649 gene polymorphism in intron one with Body Mass Index and High Density Lipoprotein-Cholesterol. PMID:34354459
De novo DNA methylation controls neuronal maturation during adult hippocampal neurogenesis. PMID:34337766
Anisotropic expansion of hepatocyte lumina enforced by apical bulkheads. PMID:34328499
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets. PMID:34326338
Association of RAD51 and XRCC2 Gene Polymorphisms with Cervical Cancer Risk in the Bangladeshi Women. PMID:34319032
Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases. PMID:34309761
Wilms tumor with Mulibrey Nanism: A case report and review of literature. PMID:34309235
Human cell transformation by combined lineage conversion and oncogene expression. PMID:34302118
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia. PMID:34301951
Web tools to perform long non-coding RNAs analysis in oncology research. PMID:34296748
Retinoblastoma genetics screening and clinical management. PMID:34294096
TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells. PMID:34283811
Action potential-coupled Rho GTPase signaling drives presynaptic plasticity. PMID:34269176
Selection for environmental variance of litter size in rabbits involves genes in pathways controlling animal resilience. PMID:34256696
The 2021 update of the EPA's adverse outcome pathway database. PMID:34253739
Epigenetic rewiring of skeletal muscle enhancers after exercise training supports a role in whole-body function and human health. PMID:34252634
RBFOX2 alters splicing outcome in distinct binding modes with multiple protein partners. PMID:34244793
Human spliceosomal snRNA sequence variants generate variant spliceosomes. PMID:34234030
Comprehensive transcriptome analysis of peripheral blood unravels key lncRNAs implicated in ABPA and asthma. PMID:34221710
Toward a Coronavirus Knowledge Graph. PMID:34209818
Genome-Wide Associations for Microscopic Differential Somatic Cell Count and Specific Mastitis Pathogens in Holstein Cows in Compost-Bedded Pack and Cubicle Farming Systems. PMID:34205623
A prognostic nomogram based on competing endogenous RNA network for clear-cell renal cell carcinoma. PMID:34196116
A Bayesian semi-parametric model for thermal proteome profiling. PMID:34188175
The effect of protein mutations on drug binding suggests ensuing personalised drug selection. PMID:34188094
Gene expression analysis in EBV-infected ataxia-telangiectasia cell lines by RNA-sequencing reveals protein synthesis defect and immune abnormalities. PMID:34183044
Framing the potential of public frameshift peptides as immunotherapy targets in colon cancer. PMID:34181673
VISPR-online: a web-based interactive tool to visualize CRISPR screening experiments. PMID:34167459
miRNAs generated from Meg3-Mirg locus are downregulated during aging. PMID:34156971
Transcriptomic analysis of primate placentas and novel rhesus trophoblast cell lines informs investigations of human placentation. PMID:34154587
The RNA Atlas expands the catalog of human non-coding RNAs. PMID:34140680
Binding of single-mutant epidermal growth factor (EGF) ligands alters the stability of the EGF receptor dimer and promotes growth signaling. PMID:34126069
Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. PMID:34113375
TNFRSF13B polymorphisms counter microbial adaptation to enteric IgA. PMID:34111031
Multiomics analysis reveals CT83 is the most specific gene for triple negative breast cancer and its hypomethylation is oncogenic in breast cancer. PMID:34108519
Resolving the graft ischemia-reperfusion injury during liver transplantation at the single cell resolution. PMID:34103479
A multifaceted role of progranulin in regulating amyloid-beta dynamics and responses. PMID:34103390
Replicate sequencing libraries are important for quantification of allelic imbalance. PMID:34099647
Iron-Bound Lipocalin-2 Protects Renal Cell Carcinoma from Ferroptosis. PMID:34069743
Contingency and chance erase necessity in the experimental evolution of ancestral proteins. PMID:34061027
Deep conservation of ribosome stall sites across RNA processing genes. PMID:34056595
EDLm6APred: ensemble deep learning approach for mRNA m6A site prediction. PMID:34051729
TSSFinder-fast and accurate ab initio prediction of the core promoter in eukaryotic genomes. PMID:34050351
CRISPR/Cas9 mediated deletion of the adenosine A2A receptor enhances CAR T cell efficacy. PMID:34050151
Lantern: an integrative repository of functional annotations for lncRNAs in the human genome. PMID:34039271
Dynamic alteration in miRNA and mRNA expression profiles at different stages of chronic arsenic exposure-induced carcinogenesis in a human cell culture model of skin cancer. PMID:34032870
Transcriptomic and metabolomic characterization of post-hatch metabolic reprogramming during hepatic development in the chicken. PMID:34030631
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. PMID:34023905
Treg cell-derived osteopontin promotes microglia-mediated white matter repair after ischemic stroke. PMID:34015256
Platelets orchestrate the resolution of pulmonary inflammation in mice by T reg cell repositioning and macrophage education. PMID:34014253
RAS mutations drive proliferative chronic myelomonocytic leukemia via a KMT2A-PLK1 axis. PMID:34006870
Roles of KLF4 and AMPK in the inhibition of glycolysis by pulsatile shear stress in endothelial cells. PMID:34001623
SynLeGG: analysis and visualization of multiomics data for discovery of cancer 'Achilles Heels' and gene function relationships. PMID:33997893
The SWI/SNF chromatin remodeling complex helps resolve R-loop-mediated transcription-replication conflicts. PMID:33986538
IIMLP: integrated information-entropy-based method for LncRNA prediction. PMID:33980144
Molecular evolution and the decline of purifying selection with age. PMID:33976227
The RNA landscape of the human placenta in health and disease. PMID:33976128
Integrative transcriptomic analysis of tissue-specific metabolic crosstalk after myocardial infarction. PMID:33972017
Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney. PMID:33958779
Cis-regulatory elements in conserved non-coding sequences of nuclear receptor genes indicate for crosstalk between endocrine systems. PMID:33954257
CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case-control study combined with a meta-analysis. PMID:33950402
A resource to explore the discovery of rare diseases and their causative genes. PMID:33947870
Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog. PMID:33945575
The effect of cell isolation methods on the human transcriptome profiling and microbial transcripts of peripheral blood. PMID:33929647
CladeOScope: functional interactions through the prism of clade-wise co-evolution. PMID:33928243
Gene signature extraction and cell identity recognition at the single-cell level with Cell-ID. PMID:33927417
Universal nomenclature for oxytocin-vasotocin ligand and receptor families. PMID:33911268
Erosion of human X chromosome inactivation causes major remodeling of the iPSC proteome. PMID:33910018
Dichotomic Hippocampal Transcriptome After Glutamatergic vs. GABAergic Deletion of the Cannabinoid CB1 Receptor. PMID:33897403
Deoxyribonuclease 1 Q222R single nucleotide polymorphism and long-term mortality after acute myocardial infarction. PMID:33891165
The copy number variation and stroke (CaNVAS) risk and outcome study. PMID:33872305
Quantitative proteome comparison of human hearts with those of model organisms. PMID:33872299
Chd8 regulates X chromosome inactivation in mouse through fine-tuning control of Xist expression. PMID:33859315
Sustained intrinsic WNT and BMP4 activation impairs hESC differentiation to definitive endoderm and drives the cells towards extra-embryonic mesoderm. PMID:33859268
Phenotypic and Clonal Stability of Antigen-Inexperienced Memory-like T Cells across the Genetic Background, Hygienic Status, and Aging. PMID:33858960
Merged Affinity Network Association Clustering: Joint multi-omic/clinical clustering to identify disease endotypes. PMID:33852839
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants. PMID:33851121
Identification of novel autophagy-related lncRNAs associated with a poor prognosis of colon adenocarcinoma through bioinformatics analysis. PMID:33850225
CDC2-like (CLK) protein kinase inhibition as a novel targeted therapeutic strategy in prostate cancer. PMID:33846420
RNA-Associated Co-expression Network Identifies Novel Biomarkers for Digestive System Cancer. PMID:33841514
Comprehensive Analysis of Differential m6A RNA Methylomes in the Hippocampus of Cocaine-Conditioned Mice. PMID:33826069
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. PMID:33824499
Low Diversity of Human Variation Despite Mostly Mild Functional Impact of De Novo Variants. PMID:33816556
Genomic Approaches Reveal Pleiotropic Effects in Crossbred Beef Cattle. PMID:33815465
Breast Cancer Patient Prognosis Is Determined by the Interplay between TP53 Mutation and Alternative Transcript Expression: Insights from TP53 Long Amplicon Digital PCR Assays. PMID:33810361
Voluntary Wheel Running Did Not Alter Gene Expression in 5xfad Mice, but in Wild-Type Animals Exclusively after One-Day of Physical Activity. PMID:33804749
Functional Characterisation of Three Glycine N-Acyltransferase Variants and the Effect on Glycine Conjugation to Benzoyl-CoA. PMID:33803916
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling. PMID:33801777
Genomic and anatomical comparisons of skin support independent adaptation to life in water by cetaceans and hippos. PMID:33798433
Evolution of DNA methylation in the human brain. PMID:33795684
Antisense RNAs during early vertebrate development are divided in groups with distinct features. PMID:33795334
Transcriptional profiling reveals potential involvement of microvillous TRPM5-expressing cells in viral infection of the olfactory epithelium. PMID:33781205
Computational meta-analysis of ribosomal RNA fragments: potential targets and interaction mechanisms. PMID:33772581
Analysis of Fungal Genomes Reveals Commonalities of Intron Gain or Loss and Functions in Intron-Poor Species. PMID:33772558
Single-cell analyses of Crohn's disease tissues reveal intestinal intraepithelial T cells heterogeneity and altered subset distributions. PMID:33771991
The transcriptional trajectories of pluripotency and differentiation comprise genes with antithetical architecture and repetitive-element content. PMID:33765992
Differential expression of protein disulfide-isomerase A3 isoforms, PDIA3 and PDIA3N, in human prostate cancer cell lines representing different stages of prostate cancer. PMID:33761087
NOTCH and EZH2 collaborate to repress PTEN expression in breast cancer. PMID:33750924
Named Data Networking for Genomics Data Management and Integrated Workflows. PMID:33748749
Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases. PMID:33747049
Classifying gastric cancer using FLORA reveals clinically relevant molecular subtypes and highlights LINC01614 as a biomarker for patient prognosis. PMID:33742127
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects. PMID:33740458
Targeting immunosuppressive macrophages overcomes PARP inhibitor resistance in BRCA1-associated triple-negative breast cancer. PMID:33738458
Impact of pre- and post-variant filtration strategies on imputation. PMID:33737531
Alvis: a tool for contig and read ALignment VISualisation and chimera detection. PMID:33726674
Alternatively Splicing Interactomes Identify Novel Isoform-Specific Partners for NSD2. PMID:33718354
Human β-Defensin 2 Mutations Are Associated With Asthma and Atopy in Children and Its Application Prevents Atopic Asthma in a Mouse Model. PMID:33717182
MoBPSweb: A web-based framework to simulate and compare breeding programs. PMID:33712818
Comparative transcriptomics highlights convergent evolution of energy metabolic pathways in group-living spiders. PMID:33709634
Higher Rates of Processed Pseudogene Acquisition in Humans and Three Great Apes Revealed by Long-Read Assemblies. PMID:33681998
TNFRSF13B Diversification Fueled by B Cell Responses to Environmental Challenges-A Hypothesis. PMID:33679786
Single-cell transcriptomic analysis of mIHC images via antigen mapping. PMID:33674303
Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach. PMID:33671899
Generation and Testing of Fluorescent Adaptable Simple Theranostic (FAST) Proteins. PMID:33659348
A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice. PMID:33658297
Complex-dependent histone acetyltransferase activity of KAT8 determines its role in transcription and cellular homeostasis. PMID:33657400
A catalog of associations between rare coding variants and COVID-19 outcomes. PMID:33655273
Short-range template switching in great ape genomes explored using pair hidden Markov models. PMID:33651813
Biological impact of mutually exclusive exon switching. PMID:33651795
Gene Size Matters: An Analysis of Gene Length in the Human Genome. PMID:33643374
BRCA2 promotes DNA-RNA hybrid resolution by DDX5 helicase at DNA breaks to facilitate their repair‡. PMID:33634895
Evolution, structure and emerging roles of C1ORF112 in DNA replication, DNA damage responses, and cancer. PMID:33625522
Genome sequences of Tropheus moorii and Petrochromis trewavasae, two eco-morphologically divergent cichlid fishes endemic to Lake Tanganyika. PMID:33619328
Complex histories of gene flow and a mitochondrial capture event in a nonsister pair of birds. PMID:33615597
Investigation of allele specific expression in various tissues of broiler chickens using the detection tool VADT. PMID:33597613
Effects of glyphosate residues and different concentrate feed proportions in dairy cow rations on hepatic gene expression, liver histology and biochemical blood parameters. PMID:33577576
Critical length in long-read resequencing. PMID:33575574
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. PMID:33568819
Comparative transcriptome analyses of the Drosophila pupal eye. PMID:33561221
The origin of the expressed retrotransposed gene ACTBL2 and its influence on human melanoma cells' motility and focal adhesion formation. PMID:33558623
Vitamin D3-Induced Tolerogenic Dendritic Cells Modulate the Transcriptomic Profile of T CD4+ Cells Towards a Functional Hyporesponsiveness. PMID:33552054
Practical prediction model of the clinical response to programmed death-ligand 1 inhibitors in advanced gastric cancer. PMID:33547412
A Meta-Analysis of the Effects of High-LET Ionizing Radiations in Human Gene Expression. PMID:33546472
In-silico definition of the Drosophila melanogaster matrisome. PMID:33543012
Clinical and Biological Subtypes of B-cell Lymphoma Revealed by Microenvironmental Signatures. PMID:33541860
BSGatlas: a unified Bacillus subtilis genome and transcriptome annotation atlas with enhanced information access. PMID:33539279
Genome Size Reduction and Transposon Activity Impact tRNA Gene Diversity While Ensuring Translational Stability in Birds. PMID:33533905
Genomic scans for selective sweeps through haplotype homozygosity and allelic fixation in 14 indigenous sheep breeds from Middle East and South Asia. PMID:33531649
Genome-Scale Profiling Reveals Noncoding Loci Carry Higher Proportions of Concordant Data. PMID:33528497
Human pathways in animal models: possibilities and limitations. PMID:33524155
Amynthas corticis genome reveals molecular mechanisms behind global distribution. PMID:33514865
Causal network inference from gene transcriptional time-series response to glucocorticoids. PMID:33513136
Androgen receptor promotes renal cell carcinoma (RCC) vasculogenic mimicry (VM) via altering TWIST1 nonsense-mediated decay through lncRNA-TANAR. PMID:33510354
Long non-coding RNA Meg3 deficiency impairs glucose homeostasis and insulin signaling by inducing cellular senescence of hepatic endothelium in obesity. PMID:33508742
A circadian clock regulates efflux by the blood-brain barrier in mice and human cells. PMID:33504784
Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency. PMID:33496735
RUNX1/RUNX1T1 mediates alternative splicing and reorganises the transcriptional landscape in leukemia. PMID:33483506
Conserved paradoxical relationships among the evolutionary, structural and expressional features of KRAB zinc-finger proteins reveal their special functional characteristics. PMID:33482715
Endocrine Fertility Parameters-Genomic Background and their Genetic Relationship to Boar Taint in German Landrace and Large White. PMID:33477702
Dual Site-Specific Chemoenzymatic Antibody Fragment Conjugation Using CRISPR-Based Hybridoma Engineering. PMID:33476135
VELCRO-IP RNA-seq reveals ribosome expansion segment function in translation genome-wide. PMID:33472078
A platform for curated products from novel open reading frames prompts reinterpretation of disease variants. PMID:33468550
A novel protein encoded by circular SMO RNA is essential for Hedgehog signaling activation and glioblastoma tumorigenicity. PMID:33446260
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection. PMID:33441574
Comparative Analysis of Transcriptome and sRNAs Expression Patterns in the Brachypodium distachyon- Magnaporthe oryzae Pathosystems. PMID:33440747
Novel circRNA discovery in sheep shows evidence of high backsplice junction conservation. PMID:33432020
HGFDB: a collective database of helmeted guinea fowl genomics. PMID:33417691
Universal and taxon-specific trends in protein sequences as a function of age. PMID:33416492
A multi-omic study for uncovering molecular mechanisms associated with hyperammonemia-induced cerebellar function impairment in rats. PMID:33404927
Insight into the bZIP Gene Family in Solanum tuberosum: Genome and Transcriptome Analysis to Understand the Roles of Gene Diversification in Spatiotemporal Gene Expression and Function. PMID:33383823
Alterations in the Genomic Distribution of 5hmC in In Vivo Aged Human Skin Fibroblasts. PMID:33374812
Reduced Gonadotrophin Receptor Expression Is Associated with a More Aggressive Ovarian Cancer Phenotype. PMID:33374698
UniBioDicts: Unified access to biological dictionaries. PMID:33367853
HAPHPIPE: Haplotype Reconstruction and Phylodynamics for Deep Sequencing of Intrahost Viral Populations. PMID:33367849
Dioxin exposure associated with fecundability and infertility in mothers and daughters of Seveso, Italy. PMID:33367671
Modeling molecular development of breast cancer in canine mammary tumors. PMID:33361113
Bidirectional Genetic Control of Phenotypic Heterogeneity and Its Implication for Cancer Drug Resistance. PMID:33355660
MuscleAtlasExplorer: a web service for studying gene expression in human skeletal muscle. PMID:33338203
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. PMID:33335035
Predicting Long non-coding RNAs through feature ensemble learning. PMID:33334320
Anti-tumour immunity induces aberrant peptide presentation in melanoma. PMID:33328638
Rolling-translated EGFR variants sustain EGFR signaling and promote glioblastoma tumorigenicity. PMID:33325513
Characterisation of gene and pathway expression in stabilised blood from children with coeliac disease. PMID:33323471
PEREGRINE: A genome-wide prediction of enhancer to gene relationships supported by experimental evidence. PMID:33320871
Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects. PMID:33318051
SLC2A12 of SLC2 Gene Family in Bird Provides Functional Compensation for the Loss of SLC2A4 Gene in Other Vertebrates. PMID:33316072
RCSB Protein Data Bank 1D Tools and Services. PMID:33313665
Selection on a small genomic region underpins differentiation in multiple color traits between two warbler species. PMID:33312686
Factors affecting detection of bimodal sour-savory mixture and inter-individual umami taste perception. PMID:33311858
TDP-43 mutations link Amyotrophic Lateral Sclerosis with R-loop homeostasis and R loop-mediated DNA damage. PMID:33301444
Next-generation sequencing analysis of circulating micro-RNA expression in response to parabolic flight as a spaceflight analogue. PMID:33298968
The evolution of the huntingtin-associated protein 40 (HAP40) in conjunction with huntingtin. PMID:33297953
Combining structure and genomics to understand antimicrobial resistance. PMID:33294134
Intronic tRNAs of mitochondrial origin regulate constitutive and alternative splicing. PMID:33292386
Insights into the genetic architecture of the human face. PMID:33288918
Transcriptome-wide profiles of circular RNA and RNA-binding protein interactions reveal effects on circular RNA biogenesis and cancer pathway expression. PMID:33287884
Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders. PMID:33282944
Genetic Diversity of Cameroon Cattle and a Putative Genomic Map for Resistance to Bovine Tuberculosis. PMID:33281865
Transfer learning efficiently maps bone marrow cell types from mouse to human using single-cell RNA sequencing. PMID:33277618
MACE RNA sequencing analysis of conjunctival squamous cell carcinoma and papilloma using formalin-fixed paraffin-embedded tumor tissue. PMID:33277602
Genome-Wide Analysis of Nubian Ibex Reveals Candidate Positively Selected Genes That Contribute to Its Adaptation to the Desert Environment. PMID:33266380
Comparative Analysis of ROS Network Genes in Extremophile Eukaryotes. PMID:33266251
Expression Pattern of Seminal Plasma Extracellular Vesicle Small RNAs in Boar Semen. PMID:33263017
Patient-derived orthotopic xenograft models of medulloblastoma lack a functional blood-brain barrier. PMID:33258962
Validation of a prostate cancer polygenic risk score. PMID:33258481
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region. PMID:33257509
Molecular Genetic Architecture of Monogenic Pediatric IBD Differs from Complex Pediatric and Adult IBD. PMID:33255894
Systems Biology Methods Applied to Blood and Tissue for a Comprehensive Analysis of Immune Response to Hepatitis B Vaccine in Adults. PMID:33250895
Transcriptome and proteome profiling reveal complementary scavenger and immune features of rat liver sinusoidal endothelial cells and liver macrophages. PMID:33246411
DIANA-miRGen v4: indexing promoters and regulators for more than 1500 microRNAs. PMID:33245765
A multicomponent screen for feeding behaviour and nutritional status in Drosophila to interrogate mammalian appetite-related genes. PMID:33242659
The FUS gene is dual-coding with both proteins contributing to FUS-mediated toxicity. PMID:33226175
Origins and Long-Term Patterns of Copy-Number Variation in Rhesus Macaques. PMID:33226085
Multiomic analysis identifies natural intrapatient temporal variability and changes in response to systemic corticosteroid therapy in chronic rhinosinusitis. PMID:33220024
Defining HPV-specific B cell responses in patients with head and neck cancer. PMID:33208941
The genomic timeline of cichlid fish diversification across continents. PMID:33208747
Functional Specialization of Human Salivary Glands and Origins of Proteins Intrinsic to Human Saliva. PMID:33207190
Bile Ductal Transcriptome Identifies Key Pathways and Hub Genes in Clonorchis sinensis-Infected Sprague-Dawley Rats. PMID:33202503
Genomic Heritability and Genome-Wide Association Studies of Plasma Metabolites in Crossbred Beef Cattle. PMID:33193612
The SNP rs13147758 in the HHIP Gene Is Associated With COPD Susceptibility, Serum, and Sputum Protein Levels in Smokers. PMID:33193570
Identification and Functional Analysis of Long Non-coding RNAs in Autism Spectrum Disorders. PMID:33193567
Ancient Cytokine Interleukin 15-Like (IL-15L) Induces a Type 2 Immune Response. PMID:33193315
Systematic comparison and assessment of RNA-seq procedures for gene expression quantitative analysis. PMID:33184454
Gene Expression Signatures in AML-12 Hepatocyte Cells upon Dengue virus Infection and Acetaminophen Treatment. PMID:33182673
Dedicated transcriptomics combined with power analysis lead to functional understanding of genes with weak phenotypic changes in knockout lines. PMID:33180766
Avian Immunome DB: an example of a user-friendly interface for extracting genetic information. PMID:33176685
Ppargc1a Controls Ciliated Cell Development by Regulating Prostaglandin Biosynthesis. PMID:33176142
RNA-seq analysis identifies cytoskeletal structural genes and pathways for meat quality in beef. PMID:33175867
Severity of bovine tuberculosis is associated with innate immune-biased transcriptional signatures of whole blood in early weeks after experimental Mycobacterium bovis infection. PMID:33166313
Transcriptomics reveal core activities of the plant growth-promoting bacterium Delftia acidovorans RAY209 during interaction with canola and soybean roots. PMID:33151138
Combinatorial expression of GPCR isoforms affects signalling and drug responses. PMID:33149304
Dissecting Herpes Simplex Virus 1-Induced Host Shutoff at the RNA Level. PMID:33148793
Analysis of splice variants of the human protein disulfide isomerase (P4HB) gene. PMID:33148170
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. PMID:33138774
PlacentaCellEnrich: A tool to characterize gene sets using placenta cell-specific gene enrichment analysis. PMID:33137644
PAR-TERRA is the main contributor to telomeric repeat-containing RNA transcripts in normal and cancer mouse cells. PMID:33127860
Illuminating the dark side of the human transcriptome with long read transcript sequencing. PMID:33126848
HDAC3 Mediates the Inflammatory Response and LPS Tolerance in Human Monocytes and Macrophages. PMID:33123128
Transgelins: Cytoskeletal Associated Proteins Implicated in the Metastasis of Colorectal Cancer. PMID:33117801
High-depth African genomes inform human migration and health. PMID:33116287
Epigenetic Reader BRD4 (Bromodomain-Containing Protein 4) Governs Nucleus-Encoded Mitochondrial Transcriptome to Regulate Cardiac Function. PMID:33113340
Preclinical validation of therapeutic targets predicted by tensor factorization on heterogeneous graphs. PMID:33106501
Whole Genome Sequence Data Provides Novel Insights Into the Genetic Architecture of Meat Quality Traits in Beef. PMID:33101375
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism. PMID:33090996
Interphase-arrested Drosophila embryos activate zygotic gene expression and initiate mid-blastula transition events at a low nuclear-cytoplasmic ratio. PMID:33090988
The influence of genetic variability in IL1B and MIR146A on the risk of pleural plaques and malignant mesothelioma. PMID:33085641
Gene expression variability in human and chimpanzee populations share common determinants. PMID:33084571
Novel Insights into the Cellular Localization and Regulation of the Autophagosomal Proteins LC3A, LC3B and LC3C. PMID:33081014
Brain transcriptome analysis reveals subtle effects on mitochondrial function and iron homeostasis of mutations in the SORL1 gene implicated in early onset familial Alzheimer's disease. PMID:33076949
Multiplex enCas12a screens detect functional buffering among paralogs otherwise masked in monogenic Cas9 knockout screens. PMID:33059726
A low-density SNP genotyping panel for the accurate prediction of cattle breeds. PMID:33057688
Biogeographic parallels in thermal tolerance and gene expression variation under temperature stress in a widespread bumble bee. PMID:33051510
A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle. PMID:33046754
Transcriptional Profiling Uncovers Human Hyalocytes as a Unique Innate Immune Cell Population. PMID:33042148
DNA methylation methods: Global DNA methylation and methylomic analyses. PMID:33039572
tRFtarget: a database for transfer RNA-derived fragment targets. PMID:33035346
In vivo CRISPR/Cas9 knockout screen: TCEAL1 silencing enhances docetaxel efficacy in prostate cancer. PMID:33033111
The Arg-293 of Cryptochrome1 is responsible for the allosteric regulation of CLOCK-CRY1 binding in circadian rhythm. PMID:33028638
Molecular evolutionary and structural analysis of human UCHL1 gene demonstrates the relevant role of intragenic epistasis in Parkinson's disease and other neurological disorders. PMID:33028204
The Lipid Handling Capacity of Subcutaneous Fat Is Programmed by mTORC2 during Development. PMID:33027655
Interleukin-6 trans-signaling is a candidate mechanism to drive progression of human DCCs during clinical latency. PMID:33020483
Target Enrichment Enables the Discovery of lncRNAs with Somatic Mutations or Altered Expression in Paraffin-Embedded Colorectal Cancer Samples. PMID:33019720
Ancient RNA virus epidemics through the lens of recent adaptation in human genomes. PMID:33012231
Mouse Genetic Reference Populations: Cellular Platforms for Integrative Systems Genetics. PMID:33010949
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome. PMID:33006316
Major histocompatibility complex variation is similar in little brown bats before and after white-nose syndrome outbreak. PMID:33005361
Exhaustive identification of conserved upstream open reading frames with potential translational regulatory functions from animal genomes. PMID:33004976
Comparative Characterization of Two cxcl8 Homologs in Oplegnathus fasciatus: Genomic, Transcriptional and Functional Analyses. PMID:32998424
Single-Nucleus RNA-Seq Is Not Suitable for Detection of Microglial Activation Genes in Humans. PMID:32997994
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization. PMID:32980560
Participation of HHIP Gene Variants in COPD Susceptibility, Lung Function, and Serum and Sputum Protein Levels in Women Exposed to Biomass-Burning Smoke. PMID:32977420
Sex-Specific Selection Drives the Evolution of Alternative Splicing in Birds. PMID:32977339
Applications of Genome-Wide Screening and Systems Biology Approaches in Drug Repositioning. PMID:32967266
SIRT1 Gene SNP rs932658 Is Associated With Medication-Related Osteonecrosis of the Jaw. PMID:32967053
Pulmonary alveolar microlithiasis: no longer in the stone age. PMID:32964001
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks. PMID:32960507
Genome-wide alterations of uracil distribution patterns in human DNA upon chemotherapeutic treatments. PMID:32956035
Inter-embryo gene expression variability recapitulates the hourglass pattern of evo-devo. PMID:32950053
Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping. PMID:32944285
Genetic and environmental determinants of human TCR repertoire diversity. PMID:32944053
Readthrough of stop codons under limiting ABCE1 concentration involves frameshifting and inhibits nonsense-mediated mRNA decay. PMID:32941650
Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat. PMID:32935881
StoneMod: a database for kidney stone modulatory proteins with experimental evidence. PMID:32934277
Molecular basis of a new ovine model for human 3M syndrome-2. PMID:32933480
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders. PMID:32917675
Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4. PMID:32915910
The Stress-Like Cancer Cell State Is a Consistent Component of Tumorigenesis. PMID:32910905
Integration of molecular profiles in a longitudinal wellness profiling cohort. PMID:32900998
PCOSKBR2: a database of genes, diseases, pathways, and networks associated with polycystic ovary syndrome. PMID:32895427
Human Endogenous Retrovirus Expression Is Associated with Head and Neck Cancer and Differential Survival. PMID:32872377
Embryo-Like Features in Developing Bacillus subtilis Biofilms. PMID:32871001
Intra-species differences in population size shape life history and genome evolution. PMID:32869739
Evolutionary and Functional Analysis of Korean Native Pig Using Single Nucleotide Polymorphisms. PMID:32868490
Expression profiling of WD40 family genes including DDB1- and CUL4- associated factor (DCAF) genes in mice and human suggests important regulatory roles in testicular development and spermatogenesis. PMID:32867693
Preoperative Fasting and General Anaesthesia Alter the Plasma Proteome. PMID:32867270
Molecular, clinicopathological, and immune correlates of LAG3 promoter DNA methylation in melanoma. PMID:32861198
Constructing cancer patient-specific and group-specific gene networks with multi-omics data. PMID:32854705
Loss of TMEM106B and PGRN leads to severe lysosomal abnormalities and neurodegeneration in mice. PMID:32852886
ATAC-seq footprinting unravels kinetics of transcription factor binding during zygotic genome activation. PMID:32848148
Combined Targeting of Estrogen Receptor Alpha and Exportin 1 in Metastatic Breast Cancers. PMID:32847042
PreLnc: An Accurate Tool for Predicting lncRNAs Based on Multiple Features. PMID:32842486
Differential processing and localization of human Nocturnin controls metabolism of mRNA and nicotinamide adenine dinucleotide cofactors. PMID:32839274
FuSe: a tool to move RNA-Seq analyses from chromosomal/gene loci to functional grouping of mRNA transcripts. PMID:32814975
Reduced left atrial cardiomyocyte PITX2 and elevated circulating BMP10 predict atrial fibrillation after ablation. PMID:32814717
Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets. PMID:32814578
A comparison of humans and baboons suggests germline mutation rates do not track cell divisions. PMID:32804933
Genome-wide association analysis of pulse wave velocity traits provide new insights into the causal relationship between arterial stiffness and blood pressure. PMID:32790701
Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines. PMID:32787775
Building the vertebrate codex using the gene breaking protein trap library. PMID:32779569
Population-scale proteome variation in human induced pluripotent stem cells. PMID:32773033
The Potential Role of Preoperative Pain, Catastrophizing, and Differential Gene Expression on Pain Outcomes after Pediatric Spinal Fusion. PMID:32771349
Korean Genome Project: 1094 Korean personal genomes with clinical information. PMID:32766443
Molecular analysis of circulating tumor DNA from breast cancer patients before and after surgery and following adjuvant chemotherapy. PMID:32765873
Integrative transcriptomics reveals genotypic impact on sugar beet storability. PMID:32754876
Fusion transcript detection using spatial transcriptomics. PMID:32753032
Polymorphisms in the Angiogenesis-Related Genes EFNB2, MMP2 and JAG1 Are Associated with Survival of Colorectal Cancer Patients. PMID:32751332
A comprehensive rat transcriptome built from large scale RNA-seq-based annotation. PMID:32749457
Is it possible ABC transporters genetic variants influence the outcomes of a weight-loss diet in obese women? PMID:32745159
Mice deficient in UXT exhibit retinitis pigmentosa-like features via aberrant autophagy activation. PMID:32744119
Distinct roles of structure-specific endonucleases EEPD1 and Metnase in replication stress responses. PMID:32743552
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease. PMID:32735996
IL-15 Preconditioning Augments CAR T Cell Responses to Checkpoint Blockade for Improved Treatment of Solid Tumors. PMID:32735774
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease. PMID:32728807
Mitochondrial DNA Damage and Brain Aging in Human Immunodeficiency Virus. PMID:32722761
Temporally Altered miRNA Expression in a Piglet Model of Hypoxic Ischemic Brain Injury. PMID:32720074
DNA methylation enables transposable element-driven genome expansion. PMID:32719115
Comparative transcriptomics of primary cells in vertebrates. PMID:32718981
Congruence of Transcription Programs in Adult Stem Cell-Derived Jejunum Organoids and Original Tissue During Long-Term Culture. PMID:32714922
SNPs in lncRNA Regions and Breast Cancer Risk. PMID:32714364
Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci. PMID:32709900
Scalable phylogenetic profiling using MinHash uncovers likely eukaryotic sexual reproduction genes. PMID:32697802
Comparative genomics and transcriptomics of 4 Paragonimus species provide insights into lung fluke parasitism and pathogenesis. PMID:32687148
ECRG2, a novel transcriptional target of p53, modulates cancer cell sensitivity to DNA damage. PMID:32681017
Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia. PMID:32680723
SPOCD1 is an essential executor of piRNA-directed de novo DNA methylation. PMID:32674113
Genetic Parameters and Genome-Wide Association Studies for Anti-Müllerian Hormone Levels and Antral Follicle Populations Measured After Estrus Synchronization in Nellore Cattle. PMID:32668804
miR155 regulation of behavior, neuropathology, and cortical transcriptomics in Alzheimer's disease. PMID:32666270
The characterization of two novel neotropical primate papillomaviruses supports the ancient within-species diversity model. PMID:32665860
GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution. PMID:32665690
NetExtractor: Extracting a Cerebellar Tissue Gene Regulatory Network Using Differentially Expressed High Mutual Information Binary RNA Profiles. PMID:32665353
A coagulation defect arising from heterozygous premature termination of tissue factor. PMID:32663190
Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice. PMID:32661394
Cytosine methylation patterns suggest a role of methylation in plastic and adaptive responses to temperature in European grayling (Thymallus thymallus) populations. PMID:32660325
The ortholog conjecture revisited: the value of orthologs and paralogs in function prediction. PMID:32657391
Klf9 is a key feedforward regulator of the transcriptomic response to glucocorticoid receptor activity. PMID:32651405
HLA Evolutionary Divergence as a Prognostic Marker for AML Patients Undergoing Allogeneic Stem Cell Transplantation. PMID:32650450
Genome-wide identification and characterization of Solanum tuberosum BiP genes reveal the role of the promoter architecture in BiP gene diversity. PMID:32647371
Environmental enrichment during forced abstinence from cocaine self-administration opposes gene network expression changes associated with the incubation effect. PMID:32647308
Genome-Wide Association Study Data Reveal Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductal Adenocarcinoma Risk. PMID:32641412
Genetic background of ataxia in children younger than 5 years in Finland. PMID:32637629
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair. PMID:32636369
A user guide for the online exploration and visualization of PCAWG data. PMID:32636365
Predicting breast cancer risk using interacting genetic and demographic factors and machine learning. PMID:32632202
Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits. PMID:32628676
Transcription of intragenic CpG islands influences spatiotemporal host gene pre-mRNA processing. PMID:32621610
CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex. PMID:32621609
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency. PMID:32616876
A hands-on introduction to querying evolutionary relationships across multiple data sources using SPARQL. PMID:32612807
Atrx Deletion in Neurons Leads to Sexually Dimorphic Dysregulation of miR-137 and Spatial Learning and Memory Deficits. PMID:32610139
Trans-generational epigenetic regulation associated with the amelioration of Duchenne Muscular Dystrophy. PMID:32596946
Sorting Out the Role of the Sortilin-Related Receptor 1 in Alzheimer's Disease. PMID:32587946
Untangling the effects of cellular composition on coexpression analysis. PMID:32580998
Composition of Caenorhabditis elegans extracellular vesicles suggests roles in metabolism, immunity, and aging. PMID:32578074
Evolution and transition of expression trajectory during human brain development. PMID:32576137
Differential sensitivity of human neurons carrying μ opioid receptor (MOR) N40D variants in response to ethanol. PMID:32561311
Transcriptional host-pathogen responses of Pseudogymnoascus destructans and three species of bats with white-nose syndrome. PMID:32552222
Splice2Deep: An ensemble of deep convolutional neural networks for improved splice site prediction in genomic DNA. PMID:32550561
Transcription Analysis of the Chemerin Impact on Gene Expression Profile in the Luteal Cells of Gilts. PMID:32545672
Dynamic rewiring of the human interactome by interferon signaling. PMID:32539747
Multi-branch Convolutional Neural Network for Identification of Small Non-coding RNA genomic loci. PMID:32528107
A Comprehensive Multi-Omic Approach Reveals a Relatively Simple Venom in a Diet Generalist, the Northern Short-Tailed Shrew, Blarina brevicauda. PMID:32520994
More Than One-to-Four via 2R: Evidence of an Independent Amphioxus Expansion and Two-Gene Ancestral Vertebrate State for MyoD-Related Myogenic Regulatory Factors (MRFs). PMID:32520990
Multiplexed imaging of nucleome architectures in single cells of mammalian tissue. PMID:32518300
Genomic background and genetic relationships between boar taint and fertility traits in German Landrace and Large White. PMID:32513168
Concordance between Thioacetamide-Induced Liver Injury in Rat and Human In Vitro Gene Expression Data. PMID:32512829
Ionising Radiation Induces Promoter DNA Hypomethylation and Perturbs Transcriptional Activity of Genes Involved in Morphogenesis during Gastrulation in Zebrafish. PMID:32512748
Landscape of drug-resistance mutations in kinase regulatory hotspots. PMID:32510566
GeneRax: A Tool for Species-Tree-Aware Maximum Likelihood-Based Gene Family Tree Inference under Gene Duplication, Transfer, and Loss. PMID:32502238
An Intronic HCP5 Variant Is Associated With Age of Onset and Susceptibility to Graves Disease in UK and Polish Cohorts. PMID:32501499
RGPDB: database of root-associated genes and promoters in maize, soybean, and sorghum. PMID:32500918
Binding Site Interactions of Modulators of Breast Cancer Resistance Protein, Multidrug Resistance-Associated Protein 2, and P-Glycoprotein Activity. PMID:32496785
Genome-wide association studies of lactation yields of milk, fat, protein and somatic cell score in New Zealand dairy goats. PMID:32489662
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
MetaCNV - a consensus approach to infer accurate copy numbers from low coverage data. PMID:32487140
Using Reactome to build an autophagy mechanism knowledgebase. PMID:32486891
An Independent Locus Upstream of ASIP Controls Variation in the Shade of the Bay Coat Colour in Horses. PMID:32486210
PIWIL3 Forms a Complex with TDRKH in Mammalian Oocytes. PMID:32486081
Comprehensive database and evolutionary dynamics of U12-type introns. PMID:32484558
mirnaQC: a webserver for comparative quality control of miRNA-seq data. PMID:32484556
Integrated omics in Drosophila uncover a circadian kinome. PMID:32483184
Pivotal role of the transcriptional co-activator YAP in trophoblast stemness of the developing human placenta. PMID:32482863
Fcirc: A comprehensive pipeline for the exploration of fusion linear and circular RNAs. PMID:32470133
Genome-wide analysis of carotid plaque burden suggests a role of IL5 in men. PMID:32469969
3' MACE RNA-sequencing allows for transcriptome profiling in human tissue samples after long-term storage. PMID:32467590
Mask, a component of the Hippo pathway, is required for Drosophila eye morphogenesis. PMID:32464117
Post-translational Modifications of Opioid Receptors. PMID:32459993
Integrative Omics Analysis Reveals a Limited Transcriptional Shock After Yeast Interspecies Hybridization. PMID:32457798
The features of polyglutamine regions depend on their evolutionary stability. PMID:32448113
Single-cell analysis of murine fibroblasts identifies neonatal to adult switching that regulates cardiomyocyte maturation. PMID:32444791
Influenza A virus utilizes noncanonical cap-snatching to diversify its mRNA/ncRNA. PMID:32444459
UAP56/DDX39B is a major cotranscriptional RNA-DNA helicase that unwinds harmful R loops genome-wide. PMID:32439635
Modeling Lysosomal Storage Diseases in the Zebrafish. PMID:32435656
Pharmacogenetic assessment of tafenoquine efficacy in patients with Plasmodium vivax malaria. PMID:32433338
FluentDNA: Nucleotide Visualization of Whole Genomes, Annotations, and Alignments. PMID:32425967
Secretome-Based Screening in Target Discovery. PMID:32425085
A Whole Genome-Wide Arrayed CRISPR Screen in Primary Organ Fibroblasts to Identify Regulators of Kidney Fibrosis. PMID:32425084
Alternative splicing of jnk1a in zebrafish determines first heart field ventricular cardiomyocyte numbers through modulation of hand2 expression. PMID:32421721
Gene Ontology Curation of Neuroinflammation Biology Improves the Interpretation of Alzheimer's Disease Gene Expression Data. PMID:32417785
Functional Conservation of Divergent p63-Bound cis-Regulatory Elements. PMID:32411176
Complex Analysis of Retroposed Genes' Contribution to Human Genome, Proteome and Transcriptome. PMID:32408516
An exploratory analysis on the influence of genetic variants on weight gain among etonogestrel contraceptive implant users. PMID:32407811
Alternative splicing of LSD1+8a in neuroendocrine prostate cancer is mediated by SRRM4. PMID:32403054
An integrative multi-omics approach uncovers the regulatory role of CDK7 and CDK4 in autophagy activation induced by silica nanoparticles. PMID:32397800
Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PMID:32392208
Advances in genome editing for genetic hearing loss. PMID:32387678
Identification and Annotation of Potential Function of Regulatory Antisense Long Non-Coding RNAs Related to Feed Efficiency in Bos taurus Bulls. PMID:32384694
Identification of functional mutations associated with environmental variance of litter size in rabbits. PMID:32375645
Expression of the COVID-19 receptor ACE2 in the human conjunctiva. PMID:32374427
Population-Specific Genetic and Expression Differentiation in Europeans. PMID:32365201
Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly. PMID:32358066
The negative regulator SMAX1 controls mycorrhizal symbiosis and strigolactone biosynthesis in rice. PMID:32355217
Site-Dependent Lineage Preference of Adipose Stem Cells. PMID:32351957
Fibroblast rejuvenation by mechanical reprogramming and redifferentiation. PMID:32350144
Regulation of the error-prone DNA polymerase Polκ by oncogenic signaling and its contribution to drug resistance. PMID:32345725
Zebrafish B cell acute lymphoblastic leukemia: new findings in an old model. PMID:32341750
Dynamics of Global Gene Expression and Regulatory Elements in Growing Brachypodium Root System. PMID:32341392
Aging-regulated anti-apoptotic long non-coding RNA Sarrah augments recovery from acute myocardial infarction. PMID:32341350
Differential Activation of P-TEFb Complexes in the Development of Cardiomyocyte Hypertrophy following Activation of Distinct G Protein-Coupled Receptors. PMID:32341082
VarFish: comprehensive DNA variant analysis for diagnostics and research. PMID:32338743
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa. PMID:32326576
BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. PMID:32325033
Serotonin signaling by maternal neurons upon stress ensures progeny survival. PMID:32324136
ATAC-seq normalization method can significantly affect differential accessibility analysis and interpretation. PMID:32321567
Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells. PMID:32320679
Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function. PMID:32316137
Deciphering the transcriptomic landscape of tumor-infiltrating CD8 lymphocytes in B16 melanoma tumors with single-cell RNA-Seq. PMID:32313720
Functional Deficits in Mice Expressing Human Interleukin 8. PMID:32312361
A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin. PMID:32307928
DolphinNext: a distributed data processing platform for high throughput genomics. PMID:32306927
Continuous mitotic activity of primitive hematopoietic stem cells in adult mice. PMID:32302400
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. PMID:32300136
A unified nomenclature for vertebrate olfactory receptors. PMID:32295537
A comprehensive annotation and differential expression analysis of short and long non-coding RNAs in 16 bat genomes. PMID:32289119
Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes. PMID:32278834
Codon Usage and Splicing Jointly Influence mRNA Localization. PMID:32275854
Test of Arabidopsis Space Transcriptome: A Discovery Environment to Explore Multiple Plant Biology Spaceflight Experiments. PMID:32265943
Pro-inflammatory Cytokines Drive Deregulation of Potassium Channel Expression in Primary Synovial Fibroblasts. PMID:32265733
The Mitochondrial Iron-Regulated (MIR) gene is Oryza genus specific and evolved before speciation within the Oryza sativa complex. PMID:32253515
A xenograft and cell line model of SDH-deficient pheochromocytoma derived from Sdhb+/- rats. PMID:32252027
miRNA target identification and prediction as a function of time in gene expression data. PMID:32249661
EpiMOLAS: an intuitive web-based framework for genome-wide DNA methylation analysis. PMID:32241255
Cdk1 Controls Global Epigenetic Landscape in Embryonic Stem Cells. PMID:32240602
The giant pouched rat (Cricetomys ansorgei) olfactory receptor repertoire. PMID:32240170
Molecular Drivers of Lymphocyte Organization in Vertebrate Mucosal Surfaces: Revisiting the TNF Superfamily Hypothesis. PMID:32238457
Automated gene data integration with Databio. PMID:32238171
LAG3 (LAG-3, CD223) DNA methylation correlates with LAG3 expression by tumor and immune cells, immune cell infiltration, and overall survival in clear cell renal cell carcinoma. PMID:32234847
Different Genetic Sources Contribute to the Small RNA Population in the Arbuscular Mycorrhizal Fungus Gigaspora margarita. PMID:32231650
MoBPS - Modular Breeding Program Simulator. PMID:32229505
Comprehensive genome-wide identification of angiosperm upstream ORFs with peptide sequences conserved in various taxonomic ranges using a novel pipeline, ESUCA. PMID:32228449
Disruption in murine Eml1 perturbs retinal lamination during early development. PMID:32221352
It takes two (Las1 HEPN endoribonuclease domains) to cut RNA correctly. PMID:32220933
Predicting the presence of breast cancer using circulating small RNAs, including those in the extracellular vesicles. PMID:32215990
Formation of human long intergenic non-coding RNA genes, pseudogenes, and protein genes: Ancestral sequences are key players. PMID:32214344
Accessing a New Dimension in TP53 Biology: Multiplex Long Amplicon Digital PCR to Specifically Detect and Quantitate Individual TP53 Transcripts. PMID:32213968
A Fine-Scale Genetic Map for Vervet Monkeys. PMID:32211856
An atlas of human metabolism. PMID:32209698
Differences in Endothelin B Receptor Isoforms Expression and Function in Breast Cancer Cells. PMID:32201539
Comprehensive Computational Analysis of Protein Phenotype Changes Due to Plausible Deleterious Variants of Human SPTLC1 Gene. PMID:32195206
ADH7, miR-3065 and LINC01133 are associated with cervical cancer progression in different age groups. PMID:32194732
Function of Torsin AAA+ ATPases in Pseudorabies Virus Nuclear Egress. PMID:32192107
Association of Peroxisome Proliferator-Activated Receptors (PPARs) with Diabetic Retinopathy in Human and Animal Models: Analysis of the Literature and Genome Browsers. PMID:32190036
Loss of the branched-chain amino acid transporter CD98hc alters the development of colonic macrophages in mice. PMID:32188932
Methods detecting rhythmic gene expression are biologically relevant only for strong signal. PMID:32182235
Genetic Architecture of Carcass and Meat Quality Traits in Montana Tropical® Composite Beef Cattle. PMID:32180796
NCResNet: Noncoding Ribonucleic Acid Prediction Based on a Deep Resident Network of Ribonucleic Acid Sequences. PMID:32180792
Wikidata as a knowledge graph for the life sciences. PMID:32180547
Cell cycle transcriptomics of Capsaspora provides insights into the evolution of cyclin-CDK machinery. PMID:32176685
Phylogenetic Modeling of Regulatory Element Turnover Based on Epigenomic Data. PMID:32176292
Comparative genomic analysis of inbred rat strains reveals the existence of ancestral polymorphisms. PMID:32166433
Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis. PMID:32163230
Mapping of the chicken cleft primary palate mutation on chromosome 11 and sequencing of the 4.9 Mb linked region. PMID:32162363
Mutations in disordered proteins as early indicators of nucleic acid changes triggering speciation. PMID:32161300
UBB pseudogene 4 encodes functional ubiquitin variants. PMID:32161257
CD29 identifies IFN-γ-producing human CD8+ T cells with an increased cytotoxic potential. PMID:32161126
Differential expression analysis comparing EBV uninfected to infected human cell lines identifies induced non-micro small non-coding RNAs. PMID:32154466
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development. PMID:32152089
Genome-Wide Detection of Key Genes and Epigenetic Markers for Chicken Fatty Liver. PMID:32151087
A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PMID:32150541
OncoMX: A Knowledgebase for Exploring Cancer Biomarkers in the Context of Related Cancer and Healthy Data. PMID:32142370
A genetic variant in microRNA-146a is associated with sporadic breast cancer in a Southern Brazilian Population. PMID:32142098
Exploring the role of the Ser9Gly (rs6280) Dopamine D3 receptor polymorphism in nicotine reinforcement and cue-elicited craving. PMID:32139730
Genetic Influence on Efficacy of Pharmacotherapy for Pediatric Attention-Deficit/Hyperactivity Disorder: Overview and Current Status of Research. PMID:32133580
Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases. PMID:32128391
Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk. PMID:32128252
Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons. PMID:32126975
TimeMeter assesses temporal gene expression similarity and identifies differentially progressing genes. PMID:32123905
Dissimilation of synonymous codon usage bias in virus-host coevolution due to translational selection. PMID:32123323
Human Hepatocyte Nuclear Factor 4-α Encodes Isoforms with Distinct Transcriptional Functions. PMID:32123031
Differential Response of the Chicken Trachea to Chronic Infection with Virulent Mycoplasma gallisepticum Strain Ap3AS and Vaxsafe MG (Strain ts-304): a Transcriptional Profile. PMID:32122943
ncRPheno: a comprehensive database platform for identification and validation of disease related noncoding RNAs. PMID:32122231
Association between the APOA2 rs3813627 Single Nucleotide Polymorphism and HDL and APOA1 Levels Through BMI. PMID:32120838
Nc2Eye: A Curated ncRNAomics Knowledgebase for Bridging Basic and Clinical Research in Eye Diseases. PMID:32117995
From the Clinic to the Bench and Back Again in One Dog Year: How a Cross-Species Pipeline to Identify New Treatments for Sarcoma Illuminates the Path Forward in Precision Medicine. PMID:32117764
Genomic Regions Associated With Skeletal Type Traits in Beef and Dairy Cattle Are Common to Regions Associated With Carcass Traits, Feed Intake and Calving Difficulty. PMID:32117439
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length. PMID:32109421
Molecular and genetic regulation of pig pancreatic islet cell development. PMID:32108026
Long non-coding RNAs in development and disease: conservation to mechanisms. PMID:32100288
Tximeta: Reference sequence checksums for provenance identification in RNA-seq. PMID:32097405
Toxicological response of the model fungus Saccharomyces cerevisiae to different concentrations of commercial graphene nanoplatelets. PMID:32094381
A guide to naming human non-coding RNA genes. PMID:32090359
Estrogen receptor alpha (ERα)-mediated coregulator binding and gene expression discriminates the toxic ERα agonist diethylstilbestrol (DES) from the endogenous ERα agonist 17β-estradiol (E2). PMID:32088792
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates. PMID:32085667
The Role of mPRδ and mPRε in Human Glioblastoma Cells: Expression, Hormonal Regulation, and Possible Clinical Outcome. PMID:32077034
Neutrophil-like HL-60 cells expressing only GFP-tagged β-actin exhibit nearly normal motility. PMID:32072765
Genomic and biochemical evidence of dietary adaptation in a marine herbivorous fish. PMID:32070255
Population-specific, recent positive directional selection suggests adaptation of human male reproductive genes to different environmental conditions. PMID:32054438
Baby Genomics: Tracing the Evolutionary Changes That Gave Rise to Placentation. PMID:32053193
Mechanical regulation of glycolysis via cytoskeleton architecture. PMID:32051585
Transcriptional Signatures of Tau and Amyloid Neuropathology. PMID:32049030
Developmental variability channels mouse molar evolution. PMID:32048989
Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. PMID:32041960
LINC01420 RNA structure and influence on cell physiology. PMID:32039714
HAMAP as SPARQL rules-A portable annotation pipeline for genomes and proteomes. PMID:32034905
Survey of mitochondrial sequences integrated into the bovine nuclear genome. PMID:32034268
Comprehensive analysis of tumor necrosis factor receptor TNFRSF9 (4-1BB) DNA methylation with regard to molecular and clinicopathological features, immune infiltrates, and response prediction to immunotherapy in melanoma. PMID:32028068
The full-length transcriptome of C. elegans using direct RNA sequencing. PMID:32024661
A CRISPR/Cas13-based approach demonstrates biological relevance of vlinc class of long non-coding RNAs in anticancer drug response. PMID:32020014
Construction of a prognosis‑associated long noncoding RNA‑mRNA network for multiple myeloma based on microarray and bioinformatics analysis. PMID:32016443
Identification of Novel Genes and Biological Pathways That Overlap in Infectious and Nonallergic Diseases of the Upper and Lower Airways Using Network Analyses. PMID:32010199
The Eupentacta fraudatrix transcriptome provides insights into regulation of cell transdifferentiation. PMID:32001787
Genomic regions associated with muscularity in beef cattle differ in five contrasting cattle breeds. PMID:32000665
ASlive: a database for alternative splicing atlas in livestock animals. PMID:32000661
Duplication and subfunctionalisation of the general transcription factor IIIA (gtf3a) gene in teleost genomes, with ovarian specific transcription of gtf3ab. PMID:31999691
Appetite regulating genes may contribute to herbivory versus carnivory trophic divergence in haplochromine cichlids. PMID:31998557
Immune correlates of tuberculosis disease and risk translate across species. PMID:31996462
Global Transcriptome Changes That Accompany Alterations in Serotonin Levels in Caenorhabditis elegans. PMID:31996358
Case report: recurrent pituitary adenoma has increased load of somatic variants. PMID:31996211
Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients. PMID:31996208
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts. PMID:31992710
The round goby genome provides insights into mechanisms that may facilitate biological invasions. PMID:31992286
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants. PMID:31992191
Assigning forensic body fluids to donors in mixed body fluids by targeted RNA/DNA deep sequencing of coding region SNPs. PMID:31989244
Biobtree: A tool to search, map and visualize bioinformatics identifiers and special keywords. PMID:31984130
Transcriptomic and open chromatin atlas of high-resolution anatomical regions in the rhesus macaque brain. PMID:31980617
High Mobility Group A (HMGA): Chromatin Nodes Controlled by a Knotty miRNA Network. PMID:31979076
Widespread Transcriptional Scanning in the Testis Modulates Gene Evolution Rates. PMID:31978344
Redefining transcriptional regulation of the APOE gene and its association with Alzheimer's disease. PMID:31978088
Genomic Access to the Diversity of Fishes. PMID:31975176
Inguinal Ring RNA Sequencing Reveals Downregulation of Muscular Genes Related to Scrotal Hernia in Pigs. PMID:31973088
Compartment and hub definitions tune metabolic networks for metabolomic interpretations. PMID:31972021
Intragenic MicroRNAs Autoregulate Their Host Genes in Both Direct and Indirect Ways-A Cross-Species Analysis. PMID:31963421
Manatee: detection and quantification of small non-coding RNAs from next-generation sequencing data. PMID:31959833
MUCIN-4 (MUC4) is a novel tumor antigen in pancreatic cancer immunotherapy. PMID:31952903
Novel Alzheimer risk genes determine the microglia response to amyloid-β but not to TAU pathology. PMID:31951107
Human iPSC-derived Down syndrome astrocytes display genome-wide perturbations in gene expression, an altered adhesion profile, and increased cellular dynamics. PMID:31943018
MRE11A Isoform Expression Associated with Outcome Following Radiotherapy in Muscle-Invasive Bladder Cancer does not Alter Cell Survival and DNA Double-Strand Break Repair Following Ionising Radiation. PMID:31942442
Transcriptomic Profiles of Monocyte-Derived Macrophages in Response to Escherichia coli is Associated with the Host Genetics. PMID:31937813
SWAV: a web-based visualization browser for sliding window analysis. PMID:31924845
In silico analysis of alternative splicing on drug-target gene interactions. PMID:31924844
Generation of mesenchyme free intestinal organoids from human induced pluripotent stem cells. PMID:31924806
FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes. PMID:31924668
A Cross-Species Systems Genetics Analysis Links APBB1IP as a Candidate for Schizophrenia and Prepulse Inhibition. PMID:31920576
Down syndrome and Alzheimer's disease: common molecular traits beyond the amyloid precursor protein. PMID:31918411
Genetic susceptibility may modify the association between cell phone use and thyroid cancer: A population-based case-control study in Connecticut. PMID:31918310
Are We Meeting the Promise of Endotypes and Precision Medicine in Asthma? PMID:31917651
Single-cell reconstruction of the adult human heart during heart failure and recovery reveals the cellular landscape underlying cardiac function. PMID:31915373
Gene interactions observed with the HDL-c blood lipid, intakes of protein, sugar and biotin in relation to circulating homocysteine concentrations in a group of black South Africans. PMID:31908954
Glucocorticoids rapidly activate cAMP production via Gαs to initiate non-genomic signaling that contributes to one-third of their canonical genomic effects. PMID:31908022
Regulation of impulsive and aggressive behaviours by a novel lncRNA. PMID:31907380
Dynamic monitoring of single-terminal norepinephrine transporter rate in the rodent cardiovascular system: A novel fluorescence imaging method. PMID:31901784
Translation of the intrinsically disordered protein α-synuclein is inhibited by a small molecule targeting its structured mRNA. PMID:31900363
A genome alignment of 120 mammals highlights ultraconserved element variability and placenta-associated enhancers. PMID:31899510
Fine mapping of genomic regions associated with female fertility in Nellore beef cattle based on sequence variants from segregating sires. PMID:31890201
LMAP_S: Lightweight Multigene Alignment and Phylogeny eStimation. PMID:31888452
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. PMID:31888296
Few SINEs of life: Alu elements have little evidence for biological relevance despite elevated translation. PMID:31886458
A systems biology approach reveals neuronal and muscle developmental defects after chronic exposure to ionising radiation in zebrafish. PMID:31882844
Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish. PMID:31882772
Transcriptome analysis-identified long noncoding RNA CRNDE in maintaining endothelial cell proliferation, migration, and tube formation. PMID:31863035
Prevalence and Implications of Contamination in Public Genomic Resources: A Case Study of 43 Reference Arthropod Assemblies. PMID:31862787
BISR-RNAseq: an efficient and scalable RNAseq analysis workflow with interactive report generation. PMID:31861980
Effects of Intronic SNPs in the Myostatin Gene on Growth and Carcass Traits in Colored Polish Merino Sheep. PMID:31861472
Proteomics Analysis of Early Developmental Stages of Zebrafish Embryos. PMID:31861170
Nucleotide composition of transposable elements likely contributes to AT/GC compositional homogeneity of teleost fish genomes. PMID:31857829
Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13. PMID:31856834
A deep neural network approach to predicting clinical outcomes of neuroblastoma patients. PMID:31856829
Common activation mechanism of class A GPCRs. PMID:31855179
Assessing Chemical-Induced Liver Injury In Vivo From In Vitro Gene Expression Data in the Rat: The Case of Thioacetamide Toxicity. PMID:31850077
Neoantigen Fitness Model Predicts Lower Immune Recognition of Cutaneous Squamous Cell Carcinomas Than Actinic Keratoses. PMID:31849976
Targeting Repeated Regions Unique to a Gene Is an Effective Strategy for Discovering Potent and Efficacious Antisense Oligonucleotides. PMID:31846799
HIV-1 Rev interacts with HERV-K RcREs present in the human genome and promotes export of unspliced HERV-K proviral RNA. PMID:31842941
deSALT: fast and accurate long transcriptomic read alignment with de Bruijn graph-based index. PMID:31842925
Mutant C9orf72 human iPSC-derived astrocytes cause non-cell autonomous motor neuron pathophysiology. PMID:31841614
A Depletion of Stop Codons in lincRNA is Owing to Transfer of Selective Constraint from Coding Sequences. PMID:31841162
Profiles of Long Non-Coding RNAs and mRNA Expression in Human Macrophages Regulated by Interleukin-27. PMID:31835347
Mycobacterium tuberculosis HN878 Infection Induces Human-Like B-Cell Follicles in Mice. PMID:31832640
Skeletal muscle transcriptional networks linked to type I myofiber grouping in Parkinson's disease. PMID:31829804
T Cells Produce IFN-α in the TREX1 D18N Model of Lupus-like Autoimmunity. PMID:31826941
Amyloid Beta and Tau Cooperate to Cause Reversible Behavioral and Transcriptional Deficits in a Model of Alzheimer's Disease. PMID:31825838
Biological Network Approach for the Identification of Regulatory Long Non-Coding RNAs Associated With Metabolic Efficiency in Cattle. PMID:31824560
Discovery of genomic variations by whole-genome resequencing of the North American Araucana chicken. PMID:31821332
The functional landscape of the human phosphoproteome. PMID:31819260
Predicting effective drug combinations using gradient tree boosting based on features extracted from drug-protein heterogeneous network. PMID:31818267
Current RNA-seq methodology reporting limits reproducibility. PMID:31813948
Proliferating Transitory T Cells with an Effector-like Transcriptional Signature Emerge from PD-1+ Stem-like CD8+ T Cells during Chronic Infection. PMID:31810882
GraphClust2: Annotation and discovery of structured RNAs with scalable and accessible integrative clustering. PMID:31808801
Whole genome detection of recent selection signatures in Sarabi cattle: a unique Iranian taurine breed. PMID:31808064
Recapitulation-like developmental transitions of chromatin accessibility in vertebrates. PMID:31807314
A Novel Long Noncoding RNA, lncR-125b, Promotes the Differentiation of Goat Skeletal Muscle Satellite Cells by Sponging miR-125b. PMID:31803241
Brainstem-Evoked Transcription of Defensive Genes After Spinal Cord Injury. PMID:31803022
Transcriptome-wide Profiling of Cerebral Cavernous Malformations Patients Reveal Important Long noncoding RNA molecular signatures. PMID:31796831
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). PMID:31782611
New C-Terminal Conserved Regions of Tafazzin, a Catalyst of Cardiolipin Remodeling. PMID:31781330
DNA Sequence Variants and Protein Haplotypes of Casein Genes in German Black Pied Cattle (DSN). PMID:31781175
Translated Long Non-Coding Ribonucleic Acid ZFAS1 Promotes Cancer Cell Migration by Elevating Reactive Oxygen Species Production in Hepatocellular Carcinoma. PMID:31781169
547 transcriptomes from 44 brain areas reveal features of the aging brain in non-human primates. PMID:31779658
Hypoxic Environment and Paired Hierarchical 3D and 2D Models of Pediatric H3.3-Mutated Gliomas Recreate the Patient Tumor Complexity. PMID:31779235
MLL1 Inhibition and Vitamin D Signaling Cooperate to Facilitate the Expanded Pluripotency State. PMID:31775036
Performance assessment of total RNA sequencing of human biofluids and extracellular vesicles. PMID:31772251
Entry by multiple picornaviruses is dependent on a pathway that includes TNK2, WASL, and NCK1. PMID:31769754
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements. PMID:31766235
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions. PMID:31765389
Isoprene-Derived Secondary Organic Aerosol Induces the Expression of MicroRNAs Associated with Inflammatory/Oxidative Stress Response in Lung Cells. PMID:31765140
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure. PMID:31765060
Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2. PMID:31761296
Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data. PMID:31757210
Exploratory analysis of transposable elements expression in the C. elegans early embryo. PMID:31757208
A novel framework for horizontal and vertical data integration in cancer studies with application to survival time prediction models. PMID:31752974
A Mini-Atlas of Gene Expression for the Domestic Goat (Capra hircus). PMID:31749840
ChiTaRS 5.0: the comprehensive database of chimeric transcripts matched with druggable fusions and 3D chromatin maps. PMID:31747015
Canonical Wnt Signaling Modulates the Expression of Pre- and Postsynaptic Components in Different Temporal Patterns. PMID:31745835
Non-apoptotic TRAIL function modulates NK cell activity during viral infection. PMID:31742873
Integration of TGF-β-induced Smad signaling in the insulin-induced transcriptional response in endothelial cells. PMID:31740700
CRISPR/Cas9-Mediated Knock-Out of KrasG12D Mutated Pancreatic Cancer Cell Lines. PMID:31739488
DNA variants affecting the expression of numerous genes in trans have diverse mechanisms of action and evolutionary histories. PMID:31738765
DeepHLApan: A Deep Learning Approach for Neoantigen Prediction Considering Both HLA-Peptide Binding and Immunogenicity. PMID:31736974
Cross-Talk Between circRNAs and mRNAs Modulates MiRNA-mediated Circuits and Affects Melanoma Plasticity. PMID:31734859
The Architecture of the Human RNA-Binding Protein Regulatory Network. PMID:31733516
pathDIP 4: an extended pathway annotations and enrichment analysis resource for human, model organisms and domesticated species. PMID:31733064
Genome3D: integrating a collaborative data pipeline to expand the depth and breadth of consensus protein structure annotation. PMID:31733063
Functional exploration of co-expression networks identifies a nexus for modulating protein and citric acid titres in Aspergillus niger submerged culture. PMID:31728200
Screening for mouse genes lost in mammals with long lifespans. PMID:31728160
Adaptation is maintained by the parliament of genes. PMID:31727886
mPies: a novel metaproteomics tool for the creation of relevant protein databases and automatized protein annotation. PMID:31727118
oRNAment: a database of putative RNA binding protein target sites in the transcriptomes of model species. PMID:31724725
The neXtProt knowledgebase in 2020: data, tools and usability improvements. PMID:31724716
DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression. PMID:31722199
Identification of loci associated with conception rate in primiparous Holstein cows. PMID:31718557
The Year of the Rat: The Rat Genome Database at 20: a multi-species knowledgebase and analysis platform. PMID:31713623
New developments on the Encyclopedia of DNA Elements (ENCODE) data portal. PMID:31713622
LncTarD: a manually-curated database of experimentally-supported functional lncRNA-target regulations in human diseases. PMID:31713618
A Bioinformatics Guide to Plant Microbiome Analysis. PMID:31708944
Transcriptomic networks implicate neuronal energetic abnormalities in three mouse models harboring autism and schizophrenia-associated mutations. PMID:31705054
MiPepid: MicroPeptide identification tool using machine learning. PMID:31703551
Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle. PMID:31703548
Drosophila PSI controls circadian period and the phase of circadian behavior under temperature cycle via tim splicing. PMID:31702555
Expression and phase separation potential of heterochromatin proteins during early mouse development. PMID:31701657
Evolutionary divergence of HLA class I genotype impacts efficacy of cancer immunotherapy. PMID:31700181
Assessing reliability of intra-tumor heterogeneity estimates from single sample whole exome sequencing data. PMID:31697689
Free circular introns with an unusual branchpoint in neuronal projections. PMID:31697236
Macrophages reprogram after ischemic stroke and promote efferocytosis and inflammation resolution in the mouse brain. PMID:31697040
Divergence in Transcriptional and Regulatory Responses to Mating in Male and Female Fruitflies. PMID:31695054
AIDE: annotation-assisted isoform discovery with high precision. PMID:31694868
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
The gasdermins, a protein family executing cell death and inflammation. PMID:31690840
Mechanism of Action of Non-Synonymous Single Nucleotide Variations Associated with α-Carbonic Anhydrase II Deficiency. PMID:31690045
Genetic Variations of Ultraconserved Elements in the Human Genome. PMID:31689173
Enzyme annotation in UniProtKB using Rhea. PMID:31688925
Mabellini: a genome-wide database for understanding the structural proteome and evaluating prospective antimicrobial targets of the emerging pathogen Mycobacterium abscessus. PMID:31681953
Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. PMID:31680844
Data for positive selection test and co-evolutionary analysis on mammalian cereblon. PMID:31667262
High fusibility and chimera prevalence in an invasive colonial ascidian. PMID:31666562
Multi-breed genome-wide association studies across countries for electronically recorded behavior traits in local dual-purpose cows. PMID:31665138
Synchronized replication of genes encoding the same protein complex in fast-proliferating cells. PMID:31662304
A yeast phenomic model for the influence of Warburg metabolism on genetic buffering of doxorubicin. PMID:31660150
Alazami syndrome: the first case of papillary thyroid carcinoma. PMID:31656314
Paralog buffering contributes to the variable essentiality of genes in cancer cell lines. PMID:31652272
Comparative Genomics Analysis Reveals High Levels of Differential Retrotransposition among Primates from the Hominidae and the Cercopithecidae Families. PMID:31651947
The transcriptome of CMML monocytes is highly inflammatory and reflects leukemia-specific and age-related alterations. PMID:31648319
Pan-cancer whole-genome analyses of metastatic solid tumours. PMID:31645765
Bioinformatics Screening of Genes Specific for Well-Regenerating Vertebrates Reveals c-answer, a Regulator of Brain Development and Regeneration. PMID:31644900
ExonSkipDB: functional annotation of exon skipping event in human. PMID:31642488
A semi-supervised machine learning framework for microRNA classification. PMID:31639051
Construction of a Competitive Endogenous RNA Network and Identification of Potential Regulatory Axis in Gastric Cancer. PMID:31637209
Kif2a Scales Meiotic Spindle Size in Hymenochirus boettgeri. PMID:31630945
The Dynamic Chromatin Architecture of the Regenerating Liver. PMID:31629814
MBKbase for rice: an integrated omics knowledgebase for molecular breeding in rice. PMID:31624841
A Nearly Complete Genome of Ciona intestinalis Type A (C. robusta) Reveals the Contribution of Inversion to Chromosomal Evolution in the Genus Ciona. PMID:31621849
The Caenorhabditis elegans RIG-I Homolog DRH-1 Mediates the Intracellular Pathogen Response upon Viral Infection. PMID:31619561
Polymorphic Immune Mechanisms Regulate Commensal Repertoire. PMID:31618625
Attenuated pulmonary fibrosis in sialidase-3 knockout (Neu3-/-) mice. PMID:31617733
OHNOLOGS v2: a comprehensive resource for the genes retained from whole genome duplication in vertebrates. PMID:31612943
Rediscover and Refine QTLs for Pig Scrotal Hernia by Increasing a Specially Designed F3 Population and Using Whole-Genome Sequence Imputation Technology. PMID:31608119
Elimination of Reference Mapping Bias Reveals Robust Immune Related Allele-Specific Expression in Crossbred Sheep. PMID:31608110
Conserved aging-related signatures of senescence and inflammation in different tissues and species. PMID:31606727
CTCF confers local nucleosome resiliency after DNA replication and during mitosis. PMID:31599722
SEAweb: the small RNA Expression Atlas web application. PMID:31598718
snoDB: an interactive database of human snoRNA sequences, abundance and interactions. PMID:31598696
EuRBPDB: a comprehensive resource for annotation, functional and oncological investigation of eukaryotic RNA binding proteins (RBPs). PMID:31598693
Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. PMID:31587151
Molecular evolution of the meiotic recombination pathway in mammals. PMID:31579931
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. PMID:31577830
A Humanized Yeast Phenomic Model of Deoxycytidine Kinase to Predict Genetic Buffering of Nucleoside Analog Cytotoxicity. PMID:31575041
Tumor-Based Genetic Testing and Familial Cancer Risk. PMID:31570381
Identification and characterization of an IgG sequence variant with an 11 kDa heavy chain C-terminal extension using a combination of mass spectrometry and high-throughput sequencing analysis. PMID:31570042
The CLN3 gene and protein: What we know. PMID:31568712
Risk assessment of FLT3 and PAX5 variants in B-acute lymphoblastic leukemia: a case-control study in a Pakistani cohort. PMID:31565544
Discovery of Novel Sequences in 1,000 Swedish Genomes. PMID:31560401
Paralog dependency indirectly affects the robustness of human cells. PMID:31556487
Role of NF-kappaB2-p100 in regulatory T cell homeostasis and activation. PMID:31554891
Unraveling the functional role of the orphan solute carrier, SLC22A24 in the transport of steroid conjugates through metabolomic and genome-wide association studies. PMID:31553721
RNA binding candidates for human ADAR3 from substrates of a gain of function mutant expressed in neuronal cells. PMID:31552420
Cross-Species Analysis of Single-Cell Transcriptomic Data. PMID:31552245
The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease. PMID:31552093
Mitochondrial oxidative phosphorylation is impaired in TALLYHO mice, a new obesity and type 2 diabetes animal model. PMID:31542429
Cysteine oxidation triggers amyloid fibril formation of the tumor suppressor p16INK4A. PMID:31539802
Organ-specific small non-coding RNA responses in domestic (Sudani) ducks experimentally infected with highly pathogenic avian influenza virus (H5N1). PMID:31538530
Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci. PMID:31537640
3D spatial organization and network-guided comparison of mutation profiles in Glioblastoma reveals similarities across patients. PMID:31527881
Ploidy- and Purity-Adjusted Allele-Specific DNA Analysis Using CLONETv2. PMID:31524989
Assexon: Assembling Exon Using Gene Capture Data. PMID:31523128
Characterization and risk association of polymorphisms in Aurora kinases A, B and C with genetic susceptibility to gastric cancer development. PMID:31521144
A purely bioinformatic pipeline for the prediction of mammalian odorant receptor gene enhancers. PMID:31521109
Machine learning predicts putative hematopoietic stem cells within large single-cell transcriptomics data sets. PMID:31513832
5-Azacytidine modulates CpG methylation levels of EZH2 and NOTCH1 in myelodysplastic syndromes. PMID:31506740
CSF1R inhibitor JNJ-40346527 attenuates microglial proliferation and neurodegeneration in P301S mice. PMID:31504240
Unification of miRNA and isomiR research: the mirGFF3 format and the mirtop API. PMID:31504201
scds: computational annotation of doublets in single-cell RNA sequencing data. PMID:31501871
Construction of pseudomolecule sequences of Brassica rapa ssp. pekinensis inbred line CT001 and analysis of spontaneous mutations derived via sexual propagation. PMID:31498838
gapFinisher: A reliable gap filling pipeline for SSPACE-LongRead scaffolder output. PMID:31498807
CRISPR-Cas9-based mutagenesis frequently provokes on-target mRNA misregulation. PMID:31492834
Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development. PMID:31484827
Codon bias confers stability to human mRNAs. PMID:31482640
Extracellular RNA in a single droplet of human serum reflects physiologic and disease states. PMID:31481608
Gene set enrichment analysis to create polygenic scores: a developmental examination of aggression. PMID:31477688
The Length of the Expressed 3' UTR Is an Intermediate Molecular Phenotype Linking Genetic Variants to Complex Diseases. PMID:31475030
Complex Oscillatory Waves Emerging from Cortical Organoids Model Early Human Brain Network Development. PMID:31474560
Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns. PMID:31470809
Dark-matter matters: Discriminating subtle blood cancers using the darkest DNA. PMID:31469830
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity. PMID:31468281
Comparative analysis demonstrates cell type-specific conservation of SOX9 targets between mouse and chicken. PMID:31467356
Three miRNAs cooperate with host genes involved in human cardiovascular disease. PMID:31464655
Molecular Dating of the Emergence of Anaerobic Rumen Fungi and the Impact of Laterally Acquired Genes. PMID:31455637
The role of structural pleiotropy and regulatory evolution in the retention of heteromers of paralogs. PMID:31454312
Hybrid genome assembly and annotation of Danionella translucida. PMID:31451709
Microsyntenic Clusters Reveal Conservation of lncRNAs in Chordates Despite Absence of Sequence Conservation. PMID:31450588
A Computational Analysis of Alternative Splicing across Mammalian Tissues Reveals Circadian and Ultradian Rhythms in Splicing Events. PMID:31443305
A de novo evolved gene in the house mouse regulates female pregnancy cycles. PMID:31436535
New perspectives on the plant PARP family: Arabidopsis PARP3 is inactive, and PARP1 exhibits predominant poly (ADP-ribose) polymerase activity in response to DNA damage. PMID:31426748
RNA sequencing of transplant-stage idiopathic pulmonary fibrosis lung reveals unique pathway regulation. PMID:31423451
Disease classification via gene network integrating modules and pathways. PMID:31417727
HENA, heterogeneous network-based data set for Alzheimer's disease. PMID:31413325
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. PMID:31406327
The TM6SF2 E167K genetic variant induces lipid biosynthesis and reduces apolipoprotein B secretion in human hepatic 3D spheroids. PMID:31406127
Genomic approaches to identify hybrids and estimate admixture times in European wildcat populations. PMID:31406125
Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies. PMID:31402603
Genetic model of MS severity predicts future accumulation of disability. PMID:31396954
Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN. PMID:31392414
CROSSMAPPER: estimating cross-mapping rates and optimizing experimental design in multi-species sequencing studies. PMID:31392323
Modeling Alzheimer's disease with iPSC-derived brain cells. PMID:31391546
Characterization of novel small RNAs (sRNAs) contributing to the desiccation response of Salmonella enterica serovar Typhimurium. PMID:31390935
A Spontaneous Aggressive ERα+ Mammary Tumor Model Is Driven by Kras Activation. PMID:31390566
CpG promoter hypo-methylation and up-regulation of microRNA-190b in hormone receptor-positive breast cancer. PMID:31384394
Quantifying the impact of public omics data. PMID:31383865
Breed, Diet, and Interaction Effects on Adipose Tissue Transcriptome in Iberian and Duroc Pigs Fed Different Energy Sources. PMID:31382709
Computational Analysis of HLA-presentation of Non-synonymous Recipient Mismatches Indicates Effect on the Risk of Chronic Graft-vs.-Host Disease After Allogeneic HSCT. PMID:31379830
Development of a Chimeric Model to Study and Manipulate Human Microglia In Vivo. PMID:31375314
Exploring the molecular basis of neuronal excitability in a vocal learner. PMID:31375088
Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype. PMID:31367682
Spatial chromatin architecture alteration by structural variations in human genomes at the population scale. PMID:31362752
Comparison of gene expression profile of the spinal cord of sprouting-capable neonatal and sprouting-incapable adult mice. PMID:31362699
Multi-view Co-training for microRNA Prediction. PMID:31358877
Development and Characterization of a Preclinical Model for the Evaluation of CD205-Mediated Antigen Delivery Therapeutics in Type 1 Diabetes. PMID:31356169
Latrophilins: A Neuro-Centric View of an Evolutionary Conserved Adhesion G Protein-Coupled Receptor Subfamily. PMID:31354411
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH. PMID:31352694
Lost in translational biology: Understanding sex differences to inform studies of diseases of the nervous system. PMID:31351977
Differentially methylated regions in bipolar disorder and suicide. PMID:31350827
Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations. PMID:31350336
Hidden Markov models lead to higher resolution maps of mutation signature activity in cancer. PMID:31349863
Molecular evolution of mammalian genes with epistatic interactions in fertilization. PMID:31345177
Analysis of gene expression in rheumatoid arthritis and related conditions offers insights into sex-bias, gene biotypes and co-expression patterns. PMID:31344123
Divergence in larval jaw gene expression reflects differential trophic adaptation in haplochromine cichlids prior to foraging. PMID:31340758
Light pollution increases West Nile virus competence of a ubiquitous passerine reservoir species. PMID:31337318
Genetic mapping in Diversity Outbred mice identifies a Trpa1 variant influencing late-phase formalin response. PMID:31335644
Non-cell autonomous mechanism of Parkinson's disease pathology caused by G2019S LRRK2 mutation in Ashkenazi Jewish patient: Single cell analysis. PMID:31330122
Structural and evolutionary characteristics of dynamin-related GTPase OPA1. PMID:31328044
Novel protective and risk loci in hip dysplasia in German Shepherds. PMID:31323019
Multilayered control of exon acquisition permits the emergence of novel forms of regulatory control. PMID:31315652
Ultra-fast genome comparison for large-scale genomic experiments. PMID:31312019
Validation of 46 loci associated with female fertility traits in cattle. PMID:31299913
Alternative polyadenylation produces multiple 3' untranslated regions of odorant receptor mRNAs in mouse olfactory sensory neurons. PMID:31299892
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. PMID:31298765
Distribution of endogenous gammaretroviruses and variants of the Fv1 restriction gene in individual mouse strains and strain subgroups. PMID:31291374
Essential genetic findings in neurodevelopmental disorders. PMID:31288856
Pathological changes are associated with shifts in the employment of synonymous codons at the transcriptome level. PMID:31288782
Semalytics: a semantic analytics platform for the exploration of distributed and heterogeneous cancer data in translational research. PMID:31287543
Predicting drug-free remission in rheumatoid arthritis: A prospective interventional cohort study. PMID:31280933
Uncovering biomarker genes with enriched classification potential from Hallmark gene sets. PMID:31278367
Sulfation pathways from red to green. PMID:31270211
Genetics of Greenbug Resistance in Synthetic Hexaploid Wheat Derived Germplasm. PMID:31263476
Functional characterization of SMN evolution in mouse models of SMA. PMID:31263170
PTBP1 mRNA isoforms and regulation of their translation. PMID:31263002
Meta-Analysis of Microarray Expression Studies on Metformin in Cancer Cell Lines. PMID:31261735
GAIL: An interactive webserver for inference and dynamic visualization of gene-gene associations based on gene ontology guided mining of biomedical literature. PMID:31260503
PropaNet: Time-Varying Condition-Specific Transcriptional Network Construction by Network Propagation. PMID:31258543
Computational Systems Pharmacology-Target Mapping for Fentanyl-Laced Cocaine Overdose. PMID:31257858
Nrf2 Activation Promotes Lung Cancer Metastasis by Inhibiting the Degradation of Bach1. PMID:31257023
Transgelin-2: Biochemical and Clinical Implications in Cancer and Asthma. PMID:31256982
Multimapping confounds ribosome profiling analysis: A case-study of the Hsp90 molecular chaperone. PMID:31254414
Pathway-level information extractor (PLIER) for gene expression data. PMID:31249421
Developmental dynamics of lncRNAs across mammalian organs and species. PMID:31243368
The effect of breed and diet type on the global transcriptome of hepatic tissue in beef cattle divergent for feed efficiency. PMID:31242854
Human exposure to trichloroethylene is associated with increased variability of blood DNA methylation that is enriched in genes and pathways related to autoimmune disease and cancer. PMID:31241004
Moving Just Enough Deep Sequencing Data to Get the Job Done. PMID:31236009
OMA standalone: orthology inference among public and custom genomes and transcriptomes. PMID:31235654
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. PMID:31227780
Deep learning enables high-quality and high-throughput prediction of enzyme commission numbers. PMID:31221760
Evolutionary history of the human multigene families reveals widespread gene duplications throughout the history of animals. PMID:31221090
Unraveling genetic sensitivity of beef cattle to environmental variation under tropical conditions. PMID:31221081
SMARTer single cell total RNA sequencing. PMID:31216024
Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle. PMID:31214239
Subsets of ILC3-ILC1-like cells generate a diversity spectrum of innate lymphoid cells in human mucosal tissues. PMID:31209406
CRISPR/Cas9-mediated genome editing reveals 30 testis-enriched genes dispensable for male fertility in mice†. PMID:31201419
An integrative cross-omics analysis of DNA methylation sites of glucose and insulin homeostasis. PMID:31197173
Development of a Zebrafish S1500+ Sentinel Gene Set for High-Throughput Transcriptomics. PMID:31188086
Integrated entropy-based approach for analyzing exons and introns in DNA sequences. PMID:31182012
Bioinformatics analysis of a long non‑coding RNA and mRNA regulation network in rats with middle cerebral artery occlusion based on RNA sequencing. PMID:31180537
Phosphorylation mapping of Laminin β1-chain: Kinases in association with active sites. PMID:31180068
Circular RNAs as Potential Blood Biomarkers in Amyotrophic Lateral Sclerosis. PMID:31175544
Projected Prevalence of Actionable Pharmacogenetic Variants and Level A Drugs Prescribed Among US Veterans Health Administration Pharmacy Users. PMID:31173123
Population Genomic Signatures of Genetic Structure and Environmental Selection in the Catadromous Roughskin Sculpin Trachidermus fasciatus. PMID:31173074
Comparative genomics provides new insights into the remarkable adaptations of the African wild dog (Lycaon pictus). PMID:31171819
Biology and Bias in Cell Type-Specific RNAseq of Nucleus Accumbens Medium Spiny Neurons. PMID:31171808
ResMarkerDB: a database of biomarkers of response to antibody therapy in breast and colorectal cancer. PMID:31169290
WashU Epigenome Browser update 2019. PMID:31165883
Dynamics of Insulin Signaling in the Black-Legged Tick, Ixodes scapularis. PMID:31164865
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects. PMID:31161195
Identification of selection signatures involved in performance traits in a paternal broiler line. PMID:31159736
Fine mapping titin's C-zone: Matching cardiac myosin-binding protein C stripes with titin's super-repeats. PMID:31158359
Transcriptome Kinetics of Saccharomyces cerevisiae in Response to Viral Killer Toxin K1. PMID:31156606
Turnover of ribosome-associated transcripts from de novo ORFs produces gene-like characteristics available for de novo gene emergence in wild yeast populations. PMID:31152050
RNAmod: an integrated system for the annotation of mRNA modifications. PMID:31147718
CNIT: a fast and accurate web tool for identifying protein-coding and long non-coding transcripts based on intrinsic sequence composition. PMID:31147700
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations. PMID:31147699
Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome. PMID:31144574
Identification and development of long non-coding RNA-associated regulatory network in colorectal cancer. PMID:31144439
A urinary extracellular vesicle microRNA biomarker discovery pipeline; from automated extracellular vesicle enrichment by acoustic trapping to microRNA sequencing. PMID:31141544
Map and model-moving from observation to prediction in toxicogenomics. PMID:31140561
Variants in regulatory elements of PDE4D associate with major mental illness in the Finnish population. PMID:31138891
PCA-PAM50 improves consistency between breast cancer intrinsic and clinical subtyping reclassifying a subset of luminal A tumors as luminal B. PMID:31138829
CODA-ML: context-specific biological knowledge representation for systemic physiology analysis. PMID:31138123
Widespread selection for extremely high and low levels of secondary structure in coding sequences across all domains of life. PMID:31138098
Analysing Point Mutations in Protein Cleavage Sites by Using Enzyme Specificity Matrices. PMID:31130917
Coupling Genome-wide Transcriptomics and Developmental Toxicity Profiles in Zebrafish to Characterize Polycyclic Aromatic Hydrocarbon (PAH) Hazard. PMID:31130617
Resolving the Insertion Sites of Polymorphic Duplications Reveals a HERC2 Haplotype under Selection. PMID:31124564
Exploiting orthology and de novo transcriptome assembly to refine target sequence information. PMID:31122257
Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population. PMID:31122238
A new chicken 55K SNP genotyping array. PMID:31117951
sRNAbench and sRNAtoolbox 2019: intuitive fast small RNA profiling and differential expression. PMID:31114926
GREIN: An Interactive Web Platform for Re-analyzing GEO RNA-seq Data. PMID:31110304
Nanoparticles Containing an Insulin-ChgA Hybrid Peptide Protect from Transfer of Autoimmune Diabetes by Shifting the Balance between Effector T Cells and Regulatory T Cells. PMID:31109955
SCAF4 and SCAF8, mRNA Anti-Terminator Proteins. PMID:31104839
Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight. PMID:31104630
Genome-wide reconstitution of chromatin transactions reveals that RSC preferentially disrupts H2AZ-containing nucleosomes. PMID:31097474
In silico prediction of housekeeping long intergenic non-coding RNAs reveals HKlincR1 as an essential player in lung cancer cell survival. PMID:31089191
ARMOR: An Automated Reproducible MOdular Workflow for Preprocessing and Differential Analysis of RNA-seq Data. PMID:31088905
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. PMID:31081514
Splice-Aware Multiple Sequence Alignment of Protein Isoforms. PMID:31080963
Genotify: Fast, lightweight gene lookup and summarization. PMID:31080942
Quantifying local malignant adaptation in tissue-specific evolutionary trajectories by harnessing cancer's repeatability at the genetic level. PMID:31080515
A Quantitative and Predictive Model for RNA Binding by Human Pumilio Proteins. PMID:31078383
DOGMA: a web server for proteome and transcriptome quality assessment. PMID:31076763
Bioinformatic Analysis of Gene Variants from Gastroschisis Recurrence Identifies Multiple Novel Pathogenetic Pathways: Implication for the Closure of the Ventral Body Wall. PMID:31075877
Detection of Tumor NTRK Gene Fusions to Identify Patients Who May Benefit from Tyrosine Kinase (TRK) Inhibitor Therapy. PMID:31075511
Large-scale in-silico identification of a tumor-specific antigen pool for targeted immunotherapy in triple-negative breast cancer. PMID:31069014
Exploring Differential Transcriptome between Jejunal and Cecal Tissue of Broiler Chickens. PMID:31067716
Improved annotation of the domestic pig genome through integration of Iso-Seq and RNA-seq data. PMID:31064321
Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production. PMID:31053140
EpiAlign: an alignment-based bioinformatic tool for comparing chromatin state sequences. PMID:31045217
SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data. PMID:31045209
Childhood cerebellar tumours mirror conserved fetal transcriptional programs. PMID:31043743
PROTEOFORMER 2.0: Further Developments in the Ribosome Profiling-assisted Proteogenomic Hunt for New Proteoforms. PMID:31040227
Phenotypic sexual dimorphism is associated with genomic signatures of resolved sexual conflict. PMID:31038811
[Detection and interpretation of somatic variants in molecular pathology]. PMID:31037375
Germline-restricted chromosome (GRC) is widespread among songbirds. PMID:31036668
Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis. PMID:31034279
Molecular sexing assays in 114 mammalian species: In silico sequence reanalysis and a unified graphical visualization of diagnostic tests. PMID:31031962
Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology. PMID:31029096
PseudoFuN: Deriving functional potentials of pseudogenes from integrative relationships with genes and microRNAs across 32 cancers. PMID:31029062
Whole genome sequencing reveals the impact of recent artificial selection on red sea bream reared in fish farms. PMID:31019228
Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5p15.33 TERT-CLPTM1Ll Region. PMID:31009812
A comprehensive reference transcriptome resource for the Iberian ribbed newt Pleurodeles waltl, an emerging model for developmental and regeneration biology. PMID:31006799
Correction of IVS I-110(G>A) β-thalassemia by CRISPR/Cas-and TALEN-mediated disruption of aberrant regulatory elements in human hematopoietic stem and progenitor cells. PMID:31004018
Broad domains of histone 3 lysine 4 trimethylation are associated with transcriptional activation in CA1 neurons of the hippocampus during memory formation. PMID:31002880
HumCFS: a database of fragile sites in human chromosomes. PMID:30999860
Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients. PMID:30999277
Moulding the mould: understanding and reprogramming filamentous fungal growth and morphogenesis for next generation cell factories. PMID:30988699
Legacy of the influenza pandemic 1918: Introduction. PMID:30987705
IFITM3: How genetics influence influenza infection demographically. PMID:30987701
Combined Targeting of Estrogen Receptor Alpha and XPO1 Prevent Akt Activation, Remodel Metabolic Pathways and Induce Autophagy to Overcome Tamoxifen Resistance. PMID:30987380
ProteinExplorer: A Repository-Scale Resource for Exploration of Protein Detection in Public Mass Spectrometry Data Sets. PMID:30985146
Human LC3 and GABARAP subfamily members achieve functional specificity via specific structural modulations. PMID:30982432
Mechanistic identification of biofluid metabolite changes as markers of acetaminophen-induced liver toxicity in rats. PMID:30974156
A QTL for Number of Teats Shows Breed Specific Effects on Number of Vertebrae in Pigs: Bridging the Gap Between Molecular and Quantitative Genetics. PMID:30972109
The Carcinogenome Project: In Vitro Gene Expression Profiling of Chemical Perturbations to Predict Long-Term Carcinogenicity. PMID:30964323
Modulation of the helical properties of DNA: next-to-nearest neighbour effects and beyond. PMID:30957854
Genome-wide de novo L1 Retrotransposition Connects Endonuclease Activity with Replication. PMID:30955886
Complete nucleotide sequence characterization of DRB5 alleles reveals a homogeneous allele group that is distinct from other DRB genes. PMID:30954494
Genome-wide association studies targeting the yield of extraembryonic fluid and production traits in Russian White chickens. PMID:30947682
Metascape provides a biologist-oriented resource for the analysis of systems-level datasets. PMID:30944313
TranscriptAchilles: a genome-wide platform to predict isoform biomarkers of gene essentiality in cancer. PMID:30942869
Digital expression explorer 2: a repository of uniformly processed RNA sequencing data. PMID:30942868
Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. PMID:30940143
4-Hydroxytamoxifen enhances sensitivity of estrogen receptor α-positive breast cancer to docetaxel in an estrogen and ZNF423 SNP-dependent fashion. PMID:30937657
The Concerted Action of E2-2 and HEB Is Critical for Early Lymphoid Specification. PMID:30936870
beditor: A Computational Workflow for Designing Libraries of Guide RNAs for CRISPR-Mediated Base Editing. PMID:30936113
Variability in the Analgesic Response to Ibuprofen Is Associated With Cyclooxygenase Activation in Inflammatory Pain. PMID:30929268
Relationship between conformation shift and disease related variation sites in ATP-binding cassette transporter proteins. PMID:30923664
PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources. PMID:30922213
Primary endothelial cell-specific regulation of hypoxia-inducible factor (HIF)-1 and HIF-2 and their target gene expression profiles during hypoxia. PMID:30917010
NFAT1 protects articular cartilage against osteoarthritic degradation by directly regulating transcription of specific anabolic and catabolic genes. PMID:30915215
Relative Abundance of Transcripts ( RATs): Identifying differential isoform abundance from RNA-seq. PMID:30906538
Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species. PMID:30905396
Haploinsufficiency of ARHGAP42 is associated with hypertension. PMID:30903111
More than an "inverted-U"? An exploratory study of the association between the catechol-o-methyltransferase gene polymorphism and executive functions in Parkinson's disease. PMID:30897147
Gene Expression Networks Across Multiple Tissues Are Associated with Rates of Molecular Evolution in Wild House Mice. PMID:30889893
Network Modeling of Liver Metabolism to Predict Plasma Metabolite Changes During Short-Term Fasting in the Laboratory Rat. PMID:30881311
Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users. PMID:30870275
Exonic sequencing identifies TLR1 genetic variation associated with mortality in Thais with melioidosis. PMID:30866782
Chromatin capture links the metabolic enzyme AHCY to stem cell proliferation. PMID:30854431
Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome. PMID:30847002
svist4get: a simple visualization tool for genomic tracks from sequencing experiments. PMID:30841857
Circular synthesized CRISPR/Cas gRNAs for functional interrogations in the coding and noncoding genome. PMID:30838976
Phenotypic and transcriptomic characterization of canine myeloid-derived suppressor cells. PMID:30837603
CRISPR/CAS9 targeted CAPTURE of mammalian genomic regions for characterization by NGS. PMID:30837529
Cohesin-Mediated Genome Architecture Does Not Define DNA Replication Timing Domains. PMID:30836708
DAKB-GPCRs: An Integrated Computational Platform for Drug Abuse Related GPCRs. PMID:30835466
In silico analysis of fungal small RNA accumulation reveals putative plant mRNA targets in the symbiosis between an arbuscular mycorrhizal fungus and its host plant. PMID:30832582
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. PMID:30827497
Leveraging brain cortex-derived molecular data to elucidate epigenetic and transcriptomic drivers of complex traits and disease. PMID:30820025
MicroRNAs from saliva of anopheline mosquitoes mimic human endogenous miRNAs and may contribute to vector-host-pathogen interactions. PMID:30814633
mtProtEvol: the resource presenting molecular evolution analysis of proteins involved in the function of Vertebrate mitochondria. PMID:30813887
Epigenome-Wide Association Study (EWAS) of Blood Lipids in Healthy Population from STANISLAS Family Study (SFS). PMID:30813608
The moonlighting RNA-binding activity of cytosolic serine hydroxymethyltransferase contributes to control compartmentalization of serine metabolism. PMID:30809670
Genome wide association and gene enrichment analysis reveal membrane anchoring and structural proteins associated with meat quality in beef. PMID:30791866
Oxygen in the tumor microenvironment: effects on dendritic cell function. PMID:30783517
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. PMID:30781664
3DBIONOTES v3.0: crossing molecular and structural biology data with genomic variations. PMID:30768147
BioVR: a platform for virtual reality assisted biological data integration and visualization. PMID:30767777
PLAIDOH: a novel method for functional prediction of long non-coding RNAs identifies cancer-specific LncRNA activities. PMID:30767760
ClinTAD: a tool for copy number variant interpretation in the context of topologically associated domains. PMID:30765865
Disuse-induced insulin resistance susceptibility coincides with a dysregulated skeletal muscle metabolic transcriptome. PMID:30763167
Hereditary xanthinuria in a goat. PMID:30758870
Signals of Variation in Human Mutation Rate at Multiple Levels of Sequence Context. PMID:30753705
CPPred: coding potential prediction based on the global description of RNA sequence. PMID:30753596
Generation of a zebrafish SWATH-MS spectral library to quantify 10,000 proteins. PMID:30747917
NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans. PMID:30744685
Testing of library preparation methods for transcriptome sequencing of real life glioblastoma and brain tissue specimens: A comparative study with special focus on long non-coding RNAs. PMID:30742682
A conserved molecular switch in Class F receptors regulates receptor activation and pathway selection. PMID:30737406
Reproduction of contagious caprine pleuropneumonia reveals the ability of convalescent sera to reduce hydrogen peroxide production in vitro. PMID:30736863
A Microglial Signature Directing Human Aging and Neurodegeneration-Related Gene Networks. PMID:30733664
A genetic variant associated with multiple sclerosis inversely affects the expression of CD58 and microRNA-548ac from the same gene. PMID:30730892
Convergent gene losses illuminate metabolic and physiological changes in herbivores and carnivores. PMID:30718421
Genome-wide association study identifies QTLs for displacement of abomasum in Chinese Holstein cattle1. PMID:30715382
Design, optimization and validation of genes commonly used in expression studies on DMH/AOM rat colon carcinogenesis model. PMID:30713822
Integration of genomic copy number variations and chemotherapy-response biomarkers in pediatric sarcoma. PMID:30704460
Neuronal overexpression of Alzheimer's disease and Down's syndrome associated DYRK1A/minibrain gene alters motor decline, neurodegeneration and synaptic plasticity in Drosophila. PMID:30703437
Evolution of vertebrate nicotinic acetylcholine receptors. PMID:30700248
OrthoMaM v10: Scaling-Up Orthologous Coding Sequence and Exon Alignments with More than One Hundred Mammalian Genomes. PMID:30698751
Temporal patterns of gene regulation and upstream regulators contributing to major developmental transitions during Rhesus macaque preimplantation development. PMID:30698740
An integrated transcriptional analysis of the developing human retina. PMID:30696714
Comparative analyses identify genomic features potentially involved in the evolution of birds-of-paradise. PMID:30689847
Sleeping Beauty Insertional Mutagenesis Reveals Important Genetic Drivers of Central Nervous System Embryonal Tumors. PMID:30674530
A junction coverage compatibility score to quantify the reliability of transcript abundance estimates and annotation catalogs. PMID:30655364
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. PMID:30632316
RAEdb: a database of enhancers identified by high-throughput reporter assays. PMID:30624654
TogoGenome/TogoStanza: modularized Semantic Web genome database. PMID:30624651
The long non-coding RNA LINC00941 and SPRR5 are novel regulators of human epidermal homeostasis. PMID:30622217
The transcriptome landscape of the carcinogenic treatment response in the blind mole rat: insights into cancer resistance mechanisms. PMID:30621584
Human polyomavirus BKV infection of endothelial cells results in interferon pathway induction and persistence. PMID:30620752
High genomic diversity and candidate genes under selection associated with range expansion in eastern coyote (Canis latrans) populations. PMID:30619570
Genetic Variants in Preeclampsia: Lessons From Studies in Latin-American Populations. PMID:30618791
Genetic effects on promoter usage are highly context-specific and contribute to complex traits. PMID:30618377
Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17. PMID:30617627
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. PMID:30607703
Comprehensive identification of RNA-protein interactions in any organism using orthogonal organic phase separation (OOPS). PMID:30607034
Age-dependent skeletal muscle transcriptome response to bed rest-induced atrophy. PMID:30605403
STADIUM: Species-Specific tRNA Adaptive Index Compendium. PMID:30602089
Harnessing Genetic Complexity to Enhance Translatability of Alzheimer's Disease Mouse Models: A Path toward Precision Medicine. PMID:30595332
High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report. PMID:30592451
Multiple forms of selection shape reproductive isolation in a primate hybrid zone. PMID:30582763
Association of Copy Number Variation at Intron 3 of HMGA2 With Navel Length in Bos indicus. PMID:30581455
The Identification and Interpretation of cis-Regulatory Noncoding Mutations in Cancer. PMID:30577431
Four selenoprotein P genes exist in salmonids: Analysis of their origin and expression following Se supplementation and bacterial infection. PMID:30571741
Evolution of the Muscarinic Acetylcholine Receptors in Vertebrates. PMID:30564629
A Curated Resource for Phosphosite-specific Signature Analysis. PMID:30563849
An evolutionary framework for measuring epigenomic information and estimating cell-type-specific fitness consequences. PMID:30559490
Host genetic polymorphisms and serological response against malaria in a selected population in Sri Lanka. PMID:30558622
DAWN: a resource for yielding insights into the diversity among wheat genomes. PMID:30558550
Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13.1. PMID:30557369
Elucidating the Role of Chromatin State and Transcription Factors on the Regulation of the Yeast Metabolic Cycle: A Multi-Omic Integrative Approach. PMID:30555512
Structural Equation Modeling and Whole-Genome Scans Uncover Chromosome Regions and Enriched Pathways for Carcass and Meat Quality in Beef. PMID:30555508
Production of Protein-Complex Components Is Stoichiometric and Lacks General Feedback Regulation in Eukaryotes. PMID:30553725
Alternative Splicing Regulator RBM20 and Cardiomyopathy. PMID:30547036
Differential expression of PMCA2 mRNA isoforms in a cohort of Spanish patients with breast tumor types. PMID:30546427
Rediscovery of Red Wolf Ghost Alleles in a Canid Population Along the American Gulf Coast. PMID:30544757
PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations. PMID:30535305
GWAS identifies 14 loci for device-measured physical activity and sleep duration. PMID:30531941
Comprehensive Transcriptional Profiling of the Gastrointestinal Tract of Ruminants from Birth to Adulthood Reveals Strong Developmental Stage Specific Gene Expression. PMID:30530642
GOnet: a tool for interactive Gene Ontology analysis. PMID:30526489
EZH2 variants differentially regulate polycomb repressive complex 2 in histone methylation and cell differentiation. PMID:30522506
Maternal mRNA input of growth and stress-response-related genes in cichlids in relation to egg size and trophic specialization. PMID:30519389
Non-coding Class Switch Recombination-Related Transcription in Human Normal and Pathological Immune Responses. PMID:30519242
Both Intrinsically Disordered Regions and Structural Domains Evolve Rapidly in Immune-Related Mammalian Proteins. PMID:30518031
Genome-wide characterization and phylogenetic analysis of GSK gene family in three species of cotton: evidence for a role of some GSKs in fiber development and responses to stress. PMID:30514299
The Role of Cystinosin in the Intermediary Thiol Metabolism and Redox Homeostasis in Kidney Proximal Tubular Cells. PMID:30513914
Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern. PMID:30510563
A 15-lncRNA signature predicts survival and functions as a ceRNA in patients with colorectal cancer. PMID:30510449
De novo annotation of the transcriptome of the Northern Wheatear (Oenanthe oenanthe). PMID:30498627
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase. PMID:30497360
Updating genome annotation for the microbial cell factory Aspergillus niger using gene co-expression networks. PMID:30496528
PlanMine 3.0-improvements to a mineable resource of flatworm biology and biodiversity. PMID:30496475
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders. PMID:30482948
Interactive online application for the prediction, ranking and prioritisation of drug targets in Schistosoma haematobium. PMID:30482220
Predicting the mutations generated by repair of Cas9-induced double-strand breaks. PMID:30480667
Identification of the Toxicity Pathways Associated With Thioacetamide-Induced Injuries in Rat Liver and Kidney. PMID:30459623
Epigenetic meta-analysis across three civilian cohorts identifies NRG1 and HGS as blood-based biomarkers for post-traumatic stress disorder. PMID:30456986
Identification, Characterization, and Heritability of Murine Metastable Epialleles: Implications for Non-genetic Inheritance. PMID:30454646
Functional relevance of genes predicted to be affected by epigenetic alterations in atypical teratoid/rhabdoid tumors. PMID:30446899
RNAct: Protein-RNA interaction predictions for model organisms with supporting experimental data. PMID:30445601
SIFTS: updated Structure Integration with Function, Taxonomy and Sequences resource allows 40-fold increase in coverage of structure-based annotations for proteins. PMID:30445541
Ten simple rules for delivering live distance training in bioinformatics across the globe using webinars. PMID:30439935
Expression of mitochondrial dysfunction-related genes and pathways in paclitaxel-induced peripheral neuropathy in breast cancer survivors. PMID:30426838
Gene2vec: gene subsequence embedding for prediction of mammalian N 6-methyladenosine sites from mRNA. PMID:30425123
IRSOM, a reliable identifier of ncRNAs based on supervised self-organizing maps with rejection. PMID:30423081
Expanding the clinical phenotype of IARS2-related mitochondrial disease. PMID:30419932
C/VDdb: A multi-omics expression profiling database for a knowledge-driven approach in cardiovascular disease (CVD). PMID:30419069
eggNOG 5.0: a hierarchical, functionally and phylogenetically annotated orthology resource based on 5090 organisms and 2502 viruses. PMID:30418610
Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis. PMID:30413775
Transition-transversion encoding and genetic relationship metric in ReliefF feature selection improves pathway enrichment in GWAS. PMID:30410580
IID 2018 update: context-specific physical protein-protein interactions in human, model organisms and domesticated species. PMID:30407591
FusionGDB: fusion gene annotation DataBase. PMID:30407583
Lnc2Cancer v2.0: updated database of experimentally supported long non-coding RNAs in human cancers. PMID:30407549
Molecular characterization of a precision-cut rat liver slice model for the evaluation of antifibrotic compounds. PMID:30406699
Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders. PMID:30405350
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits. PMID:30405126
MitoMiner v4.0: an updated database of mitochondrial localization evidence, phenotypes and diseases. PMID:30398659
The PRIDE database and related tools and resources in 2019: improving support for quantification data. PMID:30395289
UniProt: a worldwide hub of protein knowledge. PMID:30395287
Aequatus: an open-source homology browser. PMID:30395211
An Alternative Exon of CAPS2 Influences Catecholamine Loading into LDCVs of Chromaffin Cells. PMID:30389842
Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins. PMID:30380418
LncRNA2Target v2.0: a comprehensive database for target genes of lncRNAs in human and mouse. PMID:30380072
iDog: an integrated resource for domestic dogs and wild canids. PMID:30371881
COSMIC: the Catalogue Of Somatic Mutations In Cancer. PMID:30371878
LNCipedia 5: towards a reference set of human long non-coding RNAs. PMID:30371849
GENCODE reference annotation for the human and mouse genomes. PMID:30357393
liqDB: a small-RNAseq knowledge discovery database for liquid biopsy studies. PMID:30357370
CORUM: the comprehensive resource of mammalian protein complexes-2019. PMID:30357367
Aberrant splicing in B-cell acute lymphoblastic leukemia. PMID:30357359
CoevDB: a database of intramolecular coevolution among protein-coding genes of the bony vertebrates. PMID:30357342
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. PMID:30356099
TissueEnrich: Tissue-specific gene enrichment analysis. PMID:30346488
The master regulator FUBP1: its emerging role in normal cell function and malignant development. PMID:30343319
PopHumanScan: the online catalog of human genome adaptation. PMID:30335169
RPFdb v2.0: an updated database for genome-wide information of translated mRNA generated from ribosome profiling. PMID:30335166
Identification of therapeutic targets in chordoma through comprehensive genomic and transcriptomic analyses. PMID:30322893
ParGenes: a tool for massively parallel model selection and phylogenetic tree inference on thousands of genes. PMID:30321303
Screening of candidate substrates and coupling ions of transporters by thermostability shift assays. PMID:30320551
Predicting variant deleteriousness in non-human species: applying the CADD approach in mouse. PMID:30314430
Genome-wide association studies and meta-analysis uncovers new candidate genes for growth and carcass traits in pigs. PMID:30308042
Genenames.org: the HGNC and VGNC resources in 2019. PMID:30304474
OpenProt: a more comprehensive guide to explore eukaryotic coding potential and proteomes. PMID:30299502
Using microarray-based subtyping methods for breast cancer in the era of high-throughput RNA sequencing. PMID:30289602
Genome Sequence of Peacock Reveals the Peculiar Case of a Glittering Bird. PMID:30283495
Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder. PMID:30276537
Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis. PMID:30272267
Ept7, a quantitative trait locus that controls estrogen-induced pituitary lactotroph hyperplasia in rat, is orthologous to a locus in humans that has been associated with numerous cancer types and common diseases. PMID:30261014
MS4A2-rs573790 Is Associated With Aspirin-Exacerbated Respiratory Disease: Replicative Study Using a Candidate Gene Strategy. PMID:30254660
ADIPOR1 is essential for vision and its RPE expression is lost in the Mfrprd6 mouse. PMID:30254279
Integrated analysis of transcription factors and targets co-expression profiles reveals reduced correlation between transcription factors and target genes in cancer. PMID:30251028
Exploring the genome and transcriptome of the cave nectar bat Eonycteris spelaea with PacBio long-read sequencing. PMID:30247613
Molecular and Cellular Response to Experimental Anisakis pegreffii (Nematoda, Anisakidae) Third-Stage Larval Infection in Rats. PMID:30245697
A genome-wide association study for natural antibodies measured in blood of Canadian Holstein cows. PMID:30241501
Characterization of copy number variants in a large multibreed population of beef and dairy cattle using high-density single nucleotide polymorphism genotype data. PMID:30239746
AgBioData consortium recommendations for sustainable genomics and genetics databases for agriculture. PMID:30239679
Insights into the Influence of Specific Splicing Events on the Structural Organization of LRRK2. PMID:30223621
RNA-seq: Basic Bioinformatics Analysis. PMID:30222249
Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas. PMID:30217226
Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis. PMID:30215709
AnimalTFDB 3.0: a comprehensive resource for annotation and prediction of animal transcription factors. PMID:30204897
Nature-inspired engineering of an F-type lectin for increased binding strength. PMID:30202877
Transcriptional outcomes and kinetic patterning of gene expression in response to NF-κB activation. PMID:30199532
A Bioinformatics Pipeline for the Analysis and Target Prediction of RNA Effectors in Bidirectional Communication During Plant-Microbe Interactions. PMID:30177942
Machine learning identifies interacting genetic variants contributing to breast cancer risk: A case study in Finnish cases and controls. PMID:30177847
Silent Witness: Dual-Species Transcriptomics Reveals Epithelial Immunological Quiescence to Helminth Larval Encounter and Fostered Larval Development. PMID:30158930
DNA Methylation Profiles in Whole Blood of Huntington's Disease Patients. PMID:30158895
RNA Sequencing (RNA-Seq) Reveals Extremely Low Levels of Reticulocyte-Derived Globin Gene Transcripts in Peripheral Blood From Horses (Equus caballus) and Cattle (Bos taurus). PMID:30154823
Arabidopsis RNA processing factor SERRATE regulates the transcription of intronless genes. PMID:30152752
Cross-genetic determination of maternal and neonatal immune mediators during pregnancy. PMID:30134952
Proteomics: Clinical and research applications in respiratory diseases. PMID:30105802
Sequencing of Supernumerary Chromosomes of Red Fox and Raccoon Dog Confirms a Non-Random Gene Acquisition by B Chromosomes. PMID:30103445
Xenotropic Mouse Gammaretroviruses Isolated from Pre-Leukemic Tissues Include a Recombinant. PMID:30096897
Small RNAs detected in exosomes derived from the MH7A synovial fibroblast cell line with TNF-α stimulation. PMID:30096164
A k-mer based transcriptomics approach for antisense drug discovery targeting the Ewing's family of tumors. PMID:30093970
Molecular Mechanisms of Syndromic Cryptorchidism: Data Synthesis of 50 Studies and Visualization of Gene-Disease Network. PMID:30093884
An Integrative Overview of Non-Amyloid and Non-Tau Pathologies in Alzheimer's Disease. PMID:30084096
Natural Genetic Variation in a Multigenerational Phenotype in C. elegans. PMID:30078564
CircPrimer: a software for annotating circRNAs and determining the specificity of circRNA primers. PMID:30075703
ChemDIS 2: an update of chemical-disease inference system. PMID:30053236
Formation of a Family of Long Intergenic Noncoding RNA Genes with an Embedded Translocation Breakpoint Motif in Human Chromosomal Low Copy Repeats of 22q11.2-Some Surprises and Questions. PMID:30036931
CRMP2 and CRMP4 Are Differentially Required for Axon Guidance and Growth in Zebrafish Retinal Neurons. PMID:30034463
Comparative genomic analysis of eutherian adiponectin genes. PMID:30003153
iSEE: Interactive SummarizedExperiment Explorer. PMID:30002819
The transcription factor Rfx7 limits metabolism of NK cells and promotes their maintenance and immunity. PMID:29967452
Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma. PMID:29961174
Pleiotropic effects of regulatory variation in tan result in correlation of two pigmentation traits in Drosophila melanogaster. PMID:29957826
Characterization of expression and alternative splicing of the gene cadherin-like and PC esterase domain containing 1 (Cped1). PMID:29935354
Genomic approaches for the elucidation of genes and gene networks underlying cardiovascular traits. PMID:29934864
HMMER web server: 2018 update. PMID:29905871
Imaging EGFR and HER3 through 89Zr-labeled MEHD7945A (Duligotuzumab). PMID:29899472
Expanding the horizons of microRNA bioinformatics. PMID:29871895
Multiple Sequence Alignment Averaging Improves Phylogeny Reconstruction. PMID:29771363
A Genomic Region Containing REC8 and RNF212B Is Associated with Individual Recombination Rate Variation in a Wild Population of Red Deer (Cervus elaphus). PMID:29764960
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer. PMID:29749045
ICAM-1-related long non-coding RNA: promoter analysis and expression in human retinal endothelial cells. PMID:29743093
Interferon regulatory factor 1 and a variant of heterogeneous nuclear ribonucleoprotein L coordinately silence the gene for adhesion protein CEACAM1. PMID:29720400
New CRISPR Mutagenesis Strategies Reveal Variation in Repair Mechanisms among Fungi. PMID:29695624
Ultrasound-Activated Piezoelectric Nanoparticles Inhibit Proliferation of Breast Cancer Cells. PMID:29674690
Regionally clustered ABCC8 polymorphisms in a prospective cohort predict cerebral oedema and outcome in severe traumatic brain injury. PMID:29674479
A family of long intergenic non-coding RNA genes in human chromosomal region 22q11.2 carry a DNA translocation breakpoint/AT-rich sequence. PMID:29668722
Association of EGLN1 genetic polymorphisms with SpO2 responses to acute hypobaric hypoxia in a Japanese cohort. PMID:29625625
Comparative Serum Challenges Show Divergent Patterns of Gene Expression and Open Chromatin in Human and Chimpanzee. PMID:29608722
Evolutionary origins and diversification of testis-specific short histone H2A variants in mammals. PMID:29549088
Vertebrate Genome Evolution in the Light of Fish Cytogenomics and rDNAomics. PMID:29443947
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor PubMed citations: 948.

948 articles citing: Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

The disconnect2 mutation disrupts the tjp1b gene that is required for electrical synapse formation. PMID:35855444
Targeted sequencing of candidate gene regions for myelofibrosis in dogs. PMID:35815881
Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis. PMID:35783601
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China. PMID:35741772
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2. PMID:35727845
Innovative in Silico Approaches for Characterization of Genes and Proteins. PMID:35664302
Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes. PMID:35656234
Computational and experimental methods for classifying variants of unknown clinical significance. PMID:35483875
Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs. PMID:35463004
Monoallelic Heb/Tcf12 Deletion Reduces the Requirement for NOTCH1 Hyperactivation in T-Cell Acute Lymphoblastic Leukemia. PMID:35401501
Deciphering Genetic Susceptibility to Tuberculous Meningitis. PMID:35401413
Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes. PMID:35396491
Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran. PMID:35389161
"Pure" hepatoid tumors of the pancreas harboring CTNNB1 somatic mutations: a new entity among solid pseudopapillary neoplasms. PMID:35359182
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. PMID:35288587
Brain delivering RNA-based therapeutic strategies by targeting mTOR pathway for axon regeneration after central nervous system injury. PMID:35259823
High-throughput sequencing data revealed genotype-specific changes evoked by heat stress in crown tissue of barley sdw1 near-isogenic lines. PMID:35246029
Association between host genetics of sheep and the rumen microbial composition. PMID:35192073
Coding and regulatory variants are associated with serum protein levels and disease. PMID:35079000
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants. PMID:35075588
Intraventricular Meningiomas: Clinical-Pathological and Genetic Features of a Monocentric Series. PMID:35049691
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins. PMID:34982829
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation. PMID:34952640
Molecular Genetics of Pre-B Acute Lymphoblastic Leukemia Sister Cell Lines during Disease Progression. PMID:34940123
NLR diversity and candidate fusiform rust resistance genes in loblolly pine. PMID:34897455
A Model of Minor Histocompatibility Antigens in Allogeneic Hematopoietic Cell Transplantation. PMID:34868058
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India. PMID:34849271
A joint analysis using exome and transcriptome data identifiescandidate polymorphisms and genes involved with umbilical hernia in pigs. PMID:34773987
Effects of Long-Term In Vitro Expansion on Genetic Stability and Tumor Formation Capacity of Stem Cells. PMID:34738209
Independent somatic evolution underlies clustered neuroendocrine tumors in the human small intestine. PMID:34737276
Genetic variations for the eggshell crystal structure revealed by genome-wide association study in chickens. PMID:34727889
In silico identification of variations in microRNAs with a potential impact on dairy traits using whole ruminant genome SNP datasets. PMID:34599210
Patterns of Coevolutionary Adaptations across Time and Space in Mouse Gammaretroviruses and Three Restrictive Host Factors. PMID:34578445
Whole-Genome Profiles of Malay Colorectal Cancer Patients with Intact MMR Proteins. PMID:34573430
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. PMID:34512724
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database. PMID:34462577
Tumour Genome Characterization of a Rare Case of Pulmonary Enteric Adenocarcinoma and Prior Colon Adenocarcinoma. PMID:34442412
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country. PMID:34395220
The evolution of hematopoietic cells under cancer therapy. PMID:34376657
An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds. PMID:34356081
Identification of cell lines CL-14, CL-40 and CAL-51 as suitable models for SARS-CoV-2 infection studies. PMID:34339474
The Second Oncogenic Hit Determines the Cell Fate of ETV6-RUNX1 Positive Leukemia. PMID:34336858
Wilms tumor with Mulibrey Nanism: A case report and review of literature. PMID:34309235
Using bioinformatics approaches to investigate driver genes and identify BCL7A as a prognostic gene in colorectal cancer. PMID:34306573
Immuno-genomic classification of colorectal cancer organoids reveals cancer cells with intrinsic immunogenic properties associated with patient survival. PMID:34256801
Spinocerebellar Ataxia 42: A New Entity in Indian Subcontinent. PMID:34220096
Identification of 3'-UTR single nucleotide variants and prediction of select protein imbalance in mesial temporal lobe epilepsy patients. PMID:34086756
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family. PMID:34076780
Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome. PMID:34036514
Targeted sequencing reveals candidate causal variants for dairy bull subfertility. PMID:34028060
Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine. PMID:34026292
Standing genetic variation in laboratory populations of insecticide-susceptible Phlebotomus papatasi and Lutzomyia longipalpis (Diptera: Psychodidae: Phlebotominae) for the evolution of resistance. PMID:34025765
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. PMID:34023905
Novel prostate cancer susceptibility gene SP6 predisposes patients to aggressive disease. PMID:34012061
Ultraviolet light-induced collagen degradation inhibits melanoma invasion. PMID:33980846
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits. PMID:33972781
Trans-Ancestry Mutation Landscape of Hepatoblastoma Genomes in Children. PMID:33968779
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia. PMID:33967275
Next generation plasma proteome profiling to monitor health and disease. PMID:33941778
Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis. PMID:33922858
Gene Expression Profiling of Pancreas Neuroendocrine Tumors with Different Ki67-Based Grades. PMID:33922803
Impact of maternal engrafted cytomegalovirus-specific CD8+ T cells in a patient with severe combined immunodeficiency. PMID:33868687
Effect of cell microenvironment on the drug sensitivity of hepatocellular cancer cells. PMID:33868588
Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different BRCA2 Germline Mutations: New Horizons from Tumor Molecular Profiling. PMID:33810291
Neo-Fs Index: A Novel Immunohistochemical Biomarker Panel Predicts Survival and Response to Anti-Angiogenetic Agents in Clear Cell Renal Cell Carcinoma. PMID:33801954
The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study. PMID:33801055
Phase Ib Trial of Copanlisib, A Phosphoinositide-3 Kinase (PI3K) Inhibitor, with Trastuzumab in Advanced Pre-Treated HER2-Positive Breast Cancer "PantHER". PMID:33799597
Genomic, Transcriptomic, and Proteomic Profiling of Metastatic Breast Cancer. PMID:33782032
Comprehensive analysis of mutational and clinicopathologic characteristics of poorly differentiated colorectal neuroendocrine carcinomas. PMID:33737597
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. PMID:33704825
Molecular Profiling of 22 Primary Atypical Meningiomas Shows the Prognostic Significance of 18q Heterozygous Loss and CDKN2A/B Homozygous Deletion on Recurrence-Free Survival. PMID:33670055
Host genetic control of natural killer cell diversity revealed in the Collaborative Cross. PMID:33649222
Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes. PMID:33633223
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing. PMID:33606250
Dysfunction of complement receptors CR3 (CD11b/18) and CR4 (CD11c/18) in pre-eclampsia: a genetic and functional study. PMID:33539617
Genomic characterization of clear cell renal cell carcinoma using targeted gene sequencing. PMID:33456545
Donor genetic variants as risk factors for thrombosis after liver transplantation: A genome-wide association study. PMID:33445220
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism. PMID:33383702
Genetic Ancestry Contributes to Somatic Mutations in Lung Cancers from Admixed Latin American Populations. PMID:33268447
Putative Epigenetic Biomarkers of Stress in Red Blood Cells of Chickens Reared Across Different Biomes. PMID:33240310
Opposing functions of Fng1 and the Rpd3 HDAC complex in H4 acetylation in Fusarium graminearum. PMID:33137093
DNA methylation in canine brains is related to domestication and dog-breed formation. PMID:33119634
Development and comparison of RNA-sequencing pipelines for more accurate SNP identification: practical example of functional SNP detection associated with feed efficiency in Nellore beef cattle. PMID:33032519
Genetic Variants in the Regulatory T cell-Related Pathway and Colorectal Cancer Prognosis. PMID:33008876
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. PMID:32958763
Comparative genomics of CXCR4MUT and CXCR4WT single cells in Waldenström's macroglobulinemia. PMID:32956451
Molecular basis of a new ovine model for human 3M syndrome-2. PMID:32933480
Cytogenetically visible inversions are formed by multiple molecular mechanisms. PMID:32906200
Analysis of Whole Genome Resequencing Datasets from a Worldwide Sample of Sheep Breeds to Identify Potential Causal Mutations Influencing Milk Composition Traits. PMID:32882861
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease. PMID:32859249
Diamond-Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature. PMID:32742115
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. PMID:32730690
KTN1 Variants Underlying Putamen Gray Matter Volumes and Parkinson's Disease. PMID:32655362
Genomic and Transcriptomic Characterisation of Response to Neoadjuvant Chemoradiotherapy in Locally Advanced Rectal Cancer. PMID:32640573
Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene. PMID:32639993
Detecting pathogenic variants in autoimmune diseases using high-throughput sequencing. PMID:32623783
A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report. PMID:32600357
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy. PMID:32576952
Whole-genome sequence association analysis of blood proteins in a longitudinal wellness cohort. PMID:32576278
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology. PMID:32573981
Identification of eQTLs associated with lipid metabolism in Longissimus dorsi muscle of pigs with different genetic backgrounds. PMID:32555447
CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma. PMID:32555149
Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer. PMID:32546718
Mapping and characterization of structural variation in 17,795 human genomes. PMID:32460305
Genomic resources for dissecting the role of non-protein coding variation in gene-environment interactions. PMID:32450112
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. PMID:32439203
BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy. PMID:32429297
Cas9 activates the p53 pathway and selects for p53-inactivating mutations. PMID:32424350
Acquired resistance to combined BET and CDK4/6 inhibition in triple-negative breast cancer. PMID:32393766
Lung Development Genes and Adult Lung Function. PMID:32392078
Genome-Wide Association Study of Muscle Glycogen in Jingxing Yellow Chicken. PMID:32366026
Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei. PMID:32357859
Complex Genetic Architecture Underlies Regulation of Influenza-A-Virus-Specific Antibody Responses in the Collaborative Cross. PMID:32348764
Ligneous Periodontitis in a Patient with Type 1 Plasminogen Deficiency: A Case Report and Review of the Literature. PMID:32274221
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred. PMID:32256301
Adaptive Shifts in Gene Regulation Underlie a Developmental Delay in Thermogenesis in High-Altitude Deer Mice. PMID:32243546
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta. PMID:32234057
Mapping the breast cancer metastatic cascade onto ctDNA using genetic and epigenetic clonal tracking. PMID:32221288
KTN1 variants and risk for attention deficit hyperactivity disorder. PMID:32190980
Clinical and molecular characterization of virus-positive and virus-negative Merkel cell carcinoma. PMID:32188490
Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank. PMID:32184442
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. PMID:32125084
Significant, replicable, and functional associations between KTN1 variants and alcohol and drug codependence. PMID:32115811
Purging of highly deleterious mutations through severe bottlenecks in Alpine ibex. PMID:32081890
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. PMID:32081864
NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency. PMID:32064493
A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease. PMID:32024964
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases. PMID:31977013
Accumulation of genetic variants associated with immunity in the selective breeding of broilers. PMID:31952471
Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics. PMID:31947757
Mutation position is an important determinant for predicting cancer neoantigens. PMID:31940002
Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. PMID:31936656
Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect. PMID:31923267
Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer. PMID:31907386
A preliminary investigation of rare variants associated with genetic risk for PTSD in a natural disaster-exposed adolescent sample. PMID:31839899
IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease. PMID:31788565
Landscape of Loci and Candidate Genes for Muscle Fatty Acid Composition in Pigs Revealed by Multiple Population Association Analysis. PMID:31708975
Physiological and genomic evidence that selection on the transcription factor Epas1 has altered cardiovascular function in high-altitude deer mice. PMID:31697676
Unraveling genomic associations with feed efficiency and body weight traits in chickens through an integrative approach. PMID:31694549
Genomic integrity of human induced pluripotent stem cells: Reprogramming, differentiation and applications. PMID:31692979
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge. PMID:31680375
Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood. PMID:31666285
Sorghum MSD3 Encodes an ω-3 Fatty Acid Desaturase that Increases Grain Number by Reducing Jasmonic Acid Levels. PMID:31661847
Genetic architecture related to contour feathers density in an F2 resource population via a genome-wide association study. PMID:31656738
Pediatric ALL relapses after allo-SCT show high individuality, clonal dynamics, selective pressure, and druggable targets. PMID:31648313
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly. PMID:31637876
Fertility of Pedicellate Spikelets in Sorghum Is Controlled by a Jasmonic Acid Regulatory Module. PMID:31597271
Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia. PMID:31533624
A genome-wide association study explores the genetic determinism of host resistance to Salmonella pullorum infection in chickens. PMID:31533607
Allele-Specific Expression of CD4+ T Cells in Response to Marek's Disease Virus Infection. PMID:31533276
Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6. PMID:31519648
Genome architecture and stability in the Saccharomyces cerevisiae knockout collection. PMID:31511699
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas. PMID:31510873
The Evolving Field of Genetic Epidemiology: From Familial Aggregation to Genomic Sequencing. PMID:31509181
Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment. PMID:31480372
Genome-wide association scan for QTL and their positional candidate genes associated with internal organ traits in chickens. PMID:31438838
Genome-wide association analysis of egg production performance in chickens across the whole laying period. PMID:31412760
Analysis of porcine IGF2 gene expression in adipose tissue and its effect on fatty acid composition. PMID:31393967
Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates. PMID:31382961
Rare Angiogenin and Ribonuclease 4 variants associated with amyotrophic lateral sclerosis exhibit loss-of-function: a comprehensive in silico study. PMID:31368019
Recurrent genetic HLA loss in AML relapsed after matched unrelated allogeneic hematopoietic cell transplantation. PMID:31324640
Homologous recombination and DNA repair mutations in patients treated with carboplatin and nab-paclitaxel for metastatic non-small cell lung cancer. PMID:31319977
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis. PMID:31308374
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis. PMID:31269945
Sequence-based GWAS, network and pathway analyses reveal genes co-associated with milk cheese-making properties and milk composition in Montbéliarde cows. PMID:31262251
Indel detection from Whole Genome Sequencing data and association with lipid metabolism in pigs. PMID:31246983
Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy. PMID:31242196
Association between the pig genome and its gut microbiota composition. PMID:31217427
RNA-Seq analysis of soft rush (Juncus effusus): transcriptome sequencing, de novo assembly, annotation, and polymorphism identification. PMID:31195970
Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype. PMID:31180460
The LL-100 panel: 100 cell lines for blood cancer studies. PMID:31160637
A catalog of genetic loci associated with kidney function from analyses of a million individuals. PMID:31152163
Genomic signatures of extensive inbreeding in Isle Royale wolves, a population on the threshold of extinction. PMID:31149628
Deregulated expression of NKL homeobox genes in T-cell lymphomas. PMID:31143370
Genome-Wide Association Study of H/L Traits in Chicken. PMID:31117270
Detection of circular RNA expression and related quantitative trait loci in the human dorsolateral prefrontal cortex. PMID:31109370
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. PMID:31106382
Clinical Targeted Next-Generation sequencing Panels for Detection of Somatic Variants in Gliomas. PMID:31096737
Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis. PMID:31092817
Genetic Association of Finger Photoplethysmography-Derived Arterial Stiffness Index With Blood Pressure and Coronary Artery Disease. PMID:31070453
GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures. PMID:31053729
Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population. PMID:31053132
Genome-wide sexually antagonistic variants reveal long-standing constraints on sexual dimorphism in fruit flies. PMID:31022179
Genetic Variations and Precision Medicine. PMID:31019429
Genome-Wide SNP Discovery in Indigenous Cattle Breeds of South Africa. PMID:30988672
Genome sequencing for rightward hemispheric language dominance. PMID:30950222
A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers. PMID:30901340
Adaptation and Phenotypic Diversification in Arabidopsis through Loss-of-Function Mutations in Protein-Coding Genes. PMID:30886128
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy. PMID:30858397
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. PMID:30856165
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms. PMID:30840646
Therapeutic resistance and susceptibility is shaped by cooperative multi-compartment tumor adaptation. PMID:30824837
Mutations in DNA repair genes are associated with increased neoantigen burden and a distinct immunophenotype in lung squamous cell carcinoma. PMID:30824826
A pathway-driven predictive model of tramadol pharmacogenetics. PMID:30824817
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia. PMID:30801977
Genome-wide association studies for yield-related traits in soft red winter wheat grown in Virginia. PMID:30794545
Hereditary xanthinuria in a goat. PMID:30758870
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. PMID:30735495
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. PMID:30718709
Gene editing of the multi-copy H2A.B gene and its importance for fertility. PMID:30704500
Comparison of different functional prediction scores using a gene-based permutation model for identifying cancer driver genes. PMID:30704472
Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. PMID:30680470
Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. PMID:30659259
Clinical resistance to crenolanib in acute myeloid leukemia due to diverse molecular mechanisms. PMID:30651561
Discovery of a ZIP7 inhibitor from a Notch pathway screen. PMID:30643281
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition. PMID:30630937
Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study. PMID:30630526
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. PMID:30626929
Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations. PMID:30572963
Relative impact of indels versus SNPs on complex disease. PMID:30565766
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. PMID:30514889
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). PMID:30487245
Frailty Index associates with GRIN2B in two representative samples from the United States and the United Kingdom. PMID:30475886
KDM5 Histone Demethylase Activity Links Cellular Transcriptomic Heterogeneity to Therapeutic Resistance. PMID:30472020
Impact of rare and low-frequency sequence variants on reliability of genomic prediction in dairy cattle. PMID:30458700
Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue From Icelandic Patients With Ulcerative Colitis. PMID:30452647
Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs. PMID:30448613
High-Throughput Stability Screening of Neoantigen/HLA Complexes Improves Immunogenicity Predictions. PMID:30425106
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. PMID:30419018
Purging of Strongly Deleterious Mutations Explains Long-Term Persistence and Absence of Inbreeding Depression in Island Foxes. PMID:30415705
Transition-transversion encoding and genetic relationship metric in ReliefF feature selection improves pathway enrichment in GWAS. PMID:30410580
Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. PMID:30410027
PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia. PMID:30404791
A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia. PMID:30397018
DNA Sequence Variation in ACVR1C Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes. PMID:30389748
Integration of genome wide association studies and whole genome sequencing provides novel insights into fat deposition in chicken. PMID:30385857
Functional genomic landscape of acute myeloid leukaemia. PMID:30333627
Sequence variant analysis of RNA sequences in severe equine asthma. PMID:30324028
Molecular alterations associated with metastases of solid pseudopapillary neoplasms of the pancreas. PMID:30306561
A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan. PMID:30305023
Genomic and transcriptomic characterisation of undifferentiated pleomorphic sarcoma of bone. PMID:30281149
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. PMID:30275531
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation. PMID:30271950
Apert's syndrome: Study by whole exome sequencing. PMID:30258940
Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease. PMID:30255815
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype. PMID:30255099
Mutational and copy number asset of primary sporadic neuroendocrine tumors of the small intestine. PMID:30219970
Genetics of self-reported risk-taking behaviour, trans-ethnic consistency and relevance to brain gene expression. PMID:30181555
Human Organoids Share Structural and Genetic Features with Primary Pancreatic Adenocarcinoma Tumors. PMID:30171177
In vivo phosphoproteomics reveals kinase activity profiles that predict treatment outcome in triple-negative breast cancer. PMID:30158526
Characterization of the Neuroendocrine Tumor Immune Microenvironment. PMID:30153220
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. PMID:30140000
Confirmation of GLRA3 as a susceptibility locus for albuminuria in Finnish patients with type 1 diabetes. PMID:30120300
Genetic and transcriptional evolution alters cancer cell line drug response. PMID:30089904
Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH). PMID:30071039
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination. PMID:30067756
Potent effect of the MDM2 inhibitor AMG232 on suppression of glioblastoma stem cells. PMID:30022047
Genetic variations for egg quality of chickens at late laying period revealed by genome-wide association study. PMID:30018363
Synthetic lethality of TNK2 inhibition in PTPN11-mutant leukemia. PMID:30018082
An Exome-wide Association Study for Type 2 Diabetes-Attributed End-Stage Kidney Disease in African Americans. PMID:29989002
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. PMID:29973585
Clinical and genetic spectrum of a large cohort of children with epilepsy in China. PMID:29930392
Calculating the statistical significance of rare variants causal for Mendelian and complex disorders. PMID:29898714
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models. PMID:29884841
Genomic atlas of the human plasma proteome. PMID:29875488
Landscape of copy number variations in Bos taurus: individual - and inter-breed variability. PMID:29843606
Apolipoprotein E region molecular signatures of Alzheimer's disease. PMID:29797398
A genome-wide association study reveals novel genomic regions and positional candidate genes for fat deposition in broiler chickens. PMID:29783939
Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children. PMID:29769040
Genomic variants in an inbred mouse model predict mania-like behaviors. PMID:29768498
Genome-Wide Association Analysis of Age-Dependent Egg Weights in Chickens. PMID:29755503
Identification of polymorphisms in the bovine collagenous lectins and their association with infectious diseases in cattle. PMID:29744529
Genetic alterations analysis in prognostic stratified groups identified TP53 and ARID1A as poor clinical performance markers in intrahepatic cholangiocarcinoma. PMID:29740198
Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools. PMID:29707261
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. PMID:29691411
TransAtlasDB: an integrated database connecting expression data, metadata and variants. PMID:29688361
Detection of functional protein domains by unbiased genome-wide forward genetic screening. PMID:29670134
A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver. PMID:29650998
The Origins and Vulnerabilities of Two Transmissible Cancers in Tasmanian Devils. PMID:29634948
Genetic analysis of Wnt/PCP genes in neural tube defects. PMID:29618362
Epigenetics and early domestication: differences in hypothalamic DNA methylation between red junglefowl divergently selected for high or low fear of humans. PMID:29609558
NF-kB2 Genetic Variations are Significantly Associated with Non-Small Cell Lung Cancer Risk and Overall Survival. PMID:29588475
IDH1/2 Mutations Predict Shorter Survival in Chondrosarcoma. PMID:29581779
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. PMID:29554876
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing. PMID:29522175
Genome-wide analysis yields new loci associating with aortic valve stenosis. PMID:29511194
Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels. PMID:29487695
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. PMID:29486463
Genome-wide scan of depressive symptomatology in two representative cohorts in the United States and the United Kingdom. PMID:29486404
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. PMID:29483653
MSD1 regulates pedicellate spikelet fertility in sorghum through the jasmonic acid pathway. PMID:29483511
Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1. PMID:29473935
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool. PMID:29463208
Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures. PMID:29455857
A novel LPL intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels. PMID:29438437
Comprehensive characterization of cancer genes in hepatocellular carcinoma genomes. PMID:29434842
Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort. PMID:29423651
Mutational Profiling of Malignant Mesothelioma Revealed Potential Therapeutic Targets in EGFR and NRAS. PMID:29413759
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. PMID:29392648
Expression analysis of candidate genes for fatty acid composition in adipose tissue and identification of regulatory regions. PMID:29391556
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project. PMID:29388947
Host genetic variation and its microbiome interactions within the Human Microbiome Project. PMID:29378630
Integrated ovarian mRNA and miRNA transcriptome profiling characterizes the genetic basis of prolificacy traits in sheep (Ovis aries). PMID:29378514
Genome-wide characterization of genetic variants and putative regions under selection in meat and egg-type chicken lines. PMID:29370772
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. PMID:29358691
Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. PMID:29323929
Acquired resistance to PI3K/mTOR inhibition is associated with mitochondrial DNA mutation and glycolysis. PMID:29299135
A genome-wide study to identify genes responsible for oviduct development in chickens. PMID:29281706
Canary: an atomic pipeline for clinical amplicon assays. PMID:29246107
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. PMID:29228333
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. PMID:29221145
Blood collection in cell-stabilizing tubes does not impact germline DNA quality for pediatric patients. PMID:29206863
Kras mutant genetically engineered mouse models of human cancers are genomically heterogeneous. PMID:29203670
Contributions of Zea mays subspecies mexicana haplotypes to modern maize. PMID:29187731
Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India. PMID:29184351
RNA sequencing reveals candidate genes and polymorphisms related to sperm DNA integrity in testis tissue from boars. PMID:29183316
Genetic Architecture and Candidate Genes Identified for Follicle Number in Chicken. PMID:29180824
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications. PMID:29176389
Network Analysis Reveals Putative Genes Affecting Meat Quality in Angus Cattle. PMID:29163638
Vemurafenib-resistance via de novo RBM genes mutations and chromosome 5 aberrations is overcome by combined therapy with palbociclib in thyroid carcinoma with BRAFV600E. PMID:29156680
A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse. PMID:29141579
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. PMID:29138412
High-resolution analysis of selection sweeps identified between fine-wool Merino and coarse-wool Churra sheep breeds. PMID:29115919
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. PMID:29105242
BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. PMID:29088781
Lumbosacral stenosis in Labrador retriever military working dogs - an exomic exploratory study. PMID:29085643
Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. PMID:29084231
Candidate lethal haplotypes and causal mutations in Angus cattle. PMID:29047335
Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family. PMID:29017490
Genomic Heterogeneity as a Barrier to Precision Medicine in Gastroesophageal Adenocarcinoma. PMID:28978556
Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation. PMID:28945813
Common Expression Quantitative Trait Loci Shared by Histone Genes. PMID:28929106
Within-breed and multi-breed GWAS on imputed whole-genome sequence variants reveal candidate mutations affecting milk protein composition in dairy cattle. PMID:28923017
Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species. PMID:28904385
Parkinson's disease associated with pure ATXN10 repeat expansion. PMID:28890930
Phenotype-driven precision oncology as a guide for clinical decisions one patient at a time. PMID:28874669
Effects of short indels on protein structure and function in human genomes. PMID:28839204
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. PMID:28825729
Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. PMID:28817111
Replication and validation of genetic polymorphisms associated with survival after allogeneic blood or marrow transplant. PMID:28811306
Analytical Strategy to Prioritize Alzheimer's Disease Candidate Genes in Gene Regulatory Networks Using Public Expression Data. PMID:28800327
Comprehensive Genomic Profiling of Metastatic Squamous Cell Carcinoma of the Anal Canal. PMID:28784613
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. PMID:28779002
Using the Neandertal genome to study the evolution of small insertions and deletions in modern humans. PMID:28778150
Asparagine Synthetase deficiency-report of a novel mutation and review of literature. PMID:28776279
Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs. PMID:28776031
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B. PMID:28752769
Genome-wide identification of lineage and locus specific variation associated with pneumococcal carriage duration. PMID:28742023
EPAS1 variants in high altitude Tibetan wolves were selectively introgressed into highland dogs. PMID:28717592
The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family. PMID:28690860
Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders. PMID:28671696
Gene expression allelic imbalance in ovine brown adipose tissue impacts energy homeostasis. PMID:28665992
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. PMID:28663568
Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish Population. PMID:28652462
Genome-Wide Association Study of Dietary Pattern Scores. PMID:28644415
Whole Exome Sequencing to Identify Genetic Variants Associated with Raised Atherosclerotic Lesions in Young Persons. PMID:28642624
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges. PMID:28634997
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. PMID:28630369
Identification of sequence variants influencing immunoglobulin levels. PMID:28628107
Detecting genetic association through shortest paths in a bidirected graph. PMID:28626864
Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases. PMID:28626473
MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers. PMID:28623182
Differentiated demographic histories and local adaptations between Sherpas and Tibetans. PMID:28619099
"Like sugar in milk": reconstructing the genetic history of the Parsi population. PMID:28615043
CloudNeo: a cloud pipeline for identifying patient-specific tumor neoantigens. PMID:28605406
Genetic diagnosis of Mendelian disorders via RNA sequencing. PMID:28604674
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. PMID:28594829
Inbred Strain Variant Database (ISVdb): A Repository for Probabilistically Informed Sequence Differences Among the Collaborative Cross Strains and Their Founders. PMID:28592645
The genomic road to invasion-examining the similarities and differences in the genomes of associated oral pre-cancer and cancer samples. PMID:28592326
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment. PMID:28587604
Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis. PMID:28585551
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. PMID:28548082
GLANET: genomic loci annotation and enrichment tool. PMID:28541490
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. PMID:28533336
Impact of mutations in Toll-like receptor pathway genes on esophageal carcinogenesis. PMID:28531216
GenomeVIP: a cloud platform for genomic variant discovery and interpretation. PMID:28522612
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease. PMID:28506971
A Pathway-Centered Analysis of Pig Domestication and Breeding in Eurasia. PMID:28500056
Genome-wide association study confirm major QTL for backfat fatty acid composition on SSC14 in Duroc pigs. PMID:28494783
Chromosome 1 Sequence Analysis of C57BL/6J-Chr1KM Mouse Strain. PMID:28487860
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly. PMID:28483762
ImmunoNodes - graphical development of complex immunoinformatics workflows. PMID:28482806
GSuite HyperBrowser: integrative analysis of dataset collections across the genome and epigenome. PMID:28459977
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. PMID:28457472
Novel oxytocin receptor variants in laboring women requiring high doses of oxytocin. PMID:28456503
Lost in translation: returning germline genetic results in genome-scale cancer research. PMID:28454591
PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories. PMID:28438193
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. PMID:28434888
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. PMID:28430856
Detection of QTL for traits related to adaptation to sub-optimal climatic conditions in chickens. PMID:28427323
Oncodomains: A protein domain-centric framework for analyzing rare variants in tumor samples. PMID:28426665
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. PMID:28414270
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. PMID:28406212
Search for rare protein altering variants influencing susceptibility to multiple myeloma. PMID:28404951
Global genetic variation of select opiate metabolism genes in self-reported healthy individuals. PMID:28398354
Lessons from the CAGI-4 Hopkins clinical panel challenge. PMID:28397312
Emerging role of mutations in epigenetic regulators including MLL2 derived from The Cancer Genome Atlas for cervical cancer. PMID:28390392
Chromatin determinants impart camptothecin sensitivity. PMID:28389464
Large-scale SNP discovery and construction of a high-density genetic map of Colossoma macropomum through genotyping-by-sequencing. PMID:28387238
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing. PMID:28378423
Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci. PMID:28374850
Large scale genomic analysis shows no evidence for pathogen adaptation between the blood and cerebrospinal fluid niches during bacterial meningitis. PMID:28348877
Enhancing knowledge discovery from cancer genomics data with Galaxy. PMID:28327945
Single nucleotide variants and InDels identified from whole-genome re-sequencing of Guzerat, Gyr, Girolando and Holstein cattle breeds. PMID:28323836
Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an FGFR2 Missense Mutation. PMID:28293556
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. PMID:28283061
A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma. PMID:28273074
A Randomized Phase II Neoadjuvant Study of Cisplatin, Paclitaxel With or Without Everolimus in Patients with Stage II/III Triple-Negative Breast Cancer (TNBC): Responses and Long-term Outcome Correlated with Increased Frequency of DNA Damage Response Gene Mutations, TNBC Subtype, AR Status, and Ki67. PMID:28270498
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease. PMID:28267856
GenePANDA-a novel network-based gene prioritizing tool for complex diseases. PMID:28252032
Connecting genetic risk to disease end points through the human blood plasma proteome. PMID:28240269
Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci. PMID:28240266
One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. PMID:28235832
Big Data Analytics for Genomic Medicine. PMID:28212287
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. PMID:28205584
A genome-wide association study yields five novel thyroid cancer risk loci. PMID:28195142
Integrated genomic analyses of de novo pathways underlying atypical meningiomas. PMID:28195122
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. PMID:28191890
Identification of rare nonsynonymous variants in SYNE1/CPG2 in bipolar affective disorder. PMID:28178086
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. PMID:28176794
Accurately annotate compound effects of genetic variants using a context-sensitive framework. PMID:28158838
Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom. PMID:28145424
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. PMID:28143435
Prevalence and architecture of de novo mutations in developmental disorders. PMID:28135719
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. PMID:28132688
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing. PMID:28127548
Introducing COCOS: codon consequence scanner for annotating reading frame changes induced by stop-lost and frame shift variants. PMID:28122779
A variant by any name: quantifying annotation discordance across tools and clinical databases. PMID:28122645
Whole-exome sequencing of 228 patients with sporadic Parkinson's disease. PMID:28117402
Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework. PMID:28115622
CanVar: A resource for sharing germline variation in cancer patients. PMID:28105316
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). PMID:28084650
INDELseek: detection of complex insertions and deletions from next-generation sequencing data. PMID:28056804
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. PMID:28053047
SVScore: an impact prediction tool for structural variation. PMID:28031184
Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity. PMID:28017796
A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits. PMID:28000695
Whole-exome sequencing predicted cancer epitope trees of 23 early cervical cancers in Chinese women. PMID:27998038
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. PMID:27993330
Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. PMID:27989323
easyGWAS: A Cloud-Based Platform for Comparing the Results of Genome-Wide Association Studies. PMID:27986896
Characterization of ADME gene variation in 21 populations by exome sequencing. PMID:27984508
Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony. PMID:27942904
Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms. PMID:27939749
Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. PMID:27939289
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. PMID:27916860
Evaluating Sequence-Based Genomic Prediction with an Efficient New Simulator. PMID:27913617
Verticillium dahliae LysM effectors differentially contribute to virulence on plant hosts. PMID:27911046
A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle. PMID:27905875
Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource. PMID:27903883
KBG syndrome involving a single-nucleotide duplication in ANKRD11. PMID:27900361
SCN8A mutation in a child presenting with seizures and developmental delays. PMID:27900360
Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs. PMID:27900359
The ExAC browser: displaying reference data information from over 60 000 exomes. PMID:27899611
Lung neuroendocrine tumours: deep sequencing of the four World Health Organization histotypes reveals chromatin-remodelling genes as major players and a prognostic role for TERT, RB1, MEN1 and KMT2D. PMID:27873319
Evaluation of the genetic basis of primary hypoadrenocorticism in Standard Poodles using SNP array genotyping and whole-genome sequencing. PMID:27864587
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters. PMID:27863249
Indel variant analysis of short-read sequencing data with Scalpel. PMID:27854363
Construction of a large collection of small genome variations in French dairy and beef breeds using whole-genome sequences. PMID:27846802
Density of immunogenic antigens does not explain the presence or absence of the T-cell-inflamed tumor microenvironment in melanoma. PMID:27837020
Novel genetic risk variants for pediatric celiac disease. PMID:27836013
Whole genome sequence analysis of the TALLYHO/Jng mouse. PMID:27835940
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. PMID:27831900
Replicated Risk Nicotinic Cholinergic Receptor Genes for Nicotine Dependence. PMID:27827986
Genome-Wide Detection of Selective Signatures in Chicken through High Density SNPs. PMID:27820849
Genome-wide genetic screening with chemically mutagenized haploid embryonic stem cells. PMID:27820796
Deep targeted sequencing of 12 breast cancer susceptibility regions in 4611 women across four different ethnicities. PMID:27814745
Genomic Variants Associated with Resistance to High Fat Diet Induced Obesity in a Primate Model. PMID:27811965
Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. PMID:27790247
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. PMID:27776828
The impact of ERBB-family germline single nucleotide polymorphisms on survival response to adjuvant trastuzumab treatment in HER2-positive breast cancer. PMID:27776352
Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations. PMID:27768888
Significance of TP53 Mutation in Wilms Tumors with Diffuse Anaplasia: A Report from the Children's Oncology Group. PMID:27702824
Atlas of human diseases influenced by genetic variants with extreme allele frequency differences. PMID:27699474
Genotyping-by-sequencing approaches to characterize crop genomes: choosing the right tool for the right application. PMID:27696619
Exome Sequencing and Prediction of Long-Term Kidney Allograft Function. PMID:27684477
Expression-based GWAS identifies variants, gene interactions and key regulators affecting intramuscular fatty acid content and composition in porcine meat. PMID:27666082
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. PMID:27657687
The Genetic Landscape of Renal Complications in Type 1 Diabetes. PMID:27647854
NGS-based reverse genetic screen for common embryonic lethal mutations compromising fertility in livestock. PMID:27646536
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. PMID:27625337
Subclonal diversity arises early even in small colorectal tumours and contributes to differential growth fates. PMID:27609830
Genome Sequencing of Chromosome 1 Substitution Lines Derived from Chinese Wild Mice Revealed a Unique Resource for Genetic Studies of Complex Traits. PMID:27605517
Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance. PMID:27595477
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab. PMID:27592446
Response to Programmed Cell Death-1 Blockade in a Murine Melanoma Syngeneic Model Requires Costimulation, CD4, and CD8 T Cells. PMID:27589875
A pathway-centric approach to rare variant association analysis. PMID:27577545
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD. PMID:27572114
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. PMID:27551681
Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy. PMID:27549615
Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. PMID:27545677
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. PMID:27545674
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. PMID:27535653
ISOexpresso: a web-based platform for isoform-level expression analysis in human cancer. PMID:27519173
Evaluation of artificial selection in Standard Poodles using whole-genome sequencing. PMID:27510710
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. PMID:27510606
Meta-Analysis of Tourette Syndrome and Attention Deficit Hyperactivity Disorder Provides Support for a Shared Genetic Basis. PMID:27499730
High Resolution Genomic Scans Reveal Genetic Architecture Controlling Alcohol Preference in Bidirectionally Selected Rat Model. PMID:27490364
Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome. PMID:27485430
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis. PMID:27485037
Deep genome sequencing and variation analysis of 13 inbred mouse strains defines candidate phenotypic alleles, private variation and homozygous truncating mutations. PMID:27480531
Associations of rare nicotinic cholinergic receptor gene variants to nicotine and alcohol dependence. PMID:27473937
Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24. PMID:27473539
Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans. PMID:27461219
Systems genetics identifies Hp1bp3 as a novel modulator of cognitive aging. PMID:27460150
Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease. PMID:27460089
Genetic architecture dissection by genome-wide association analysis reveals avian eggshell ultrastructure traits. PMID:27456605
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. PMID:27453576
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family. PMID:27439461
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. PMID:27432961
Genome-Wide Association Studies for Comb Traits in Chickens. PMID:27427764
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. PMID:27418539
A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers. PMID:27406316
Mutation Drivers of Immunological Responses to Cancer. PMID:27401919
Integrative radiogenomic analysis for genomic signatures in glioblastomas presenting leptomeningeal dissemination. PMID:27399113
Deriving Gene Networks from SNP Associated with Triacylglycerol and Phospholipid Fatty Acid Fractions from Ribeyes of Angus Cattle. PMID:27379164
Computational genomics tools for dissecting tumour-immune cell interactions. PMID:27376489
Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families. PMID:27373512
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. PMID:27356891
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. PMID:27353517
Transcriptome analysis revealed chimeric RNAs, single nucleotide polymorphisms and allele-specific expression in porcine prenatal skeletal muscle. PMID:27352850
Computational Analysis of Single Nucleotide Polymorphisms Associated with Altered Drug Responsiveness in Type 2 Diabetes. PMID:27347941
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. PMID:27329137
A novel approach to detect resistance mechanisms reveals FGR as a factor mediating HDAC inhibitor SAHA resistance in B-cell lymphoma. PMID:27324824
Covariance Association Test (CVAT) Identifies Genetic Markers Associated with Schizophrenia in Functionally Associated Biological Processes. PMID:27317683
The Ensembl Variant Effect Predictor. PMID:27268795
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians. PMID:27260402
Whole-genome resequencing of honeybee drones to detect genomic selection in a population managed for royal jelly. PMID:27255426
Vcfanno: fast, flexible annotation of genetic variants. PMID:27250555
Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate. PMID:27229527
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle. PMID:27225349
High-throughput and Cost-effective Chicken Genotyping Using Next-Generation Sequencing. PMID:27220827
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. PMID:27216912
Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy. PMID:27212199
Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine. PMID:27195526
Mitochondrial genetic diversity, selection and recombination in a canine transmissible cancer. PMID:27185408
A genome-wide approach to screen for genetic variants in broilers (Gallus gallus) with divergent feed conversion ratio. PMID:27174137
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. PMID:27173435
GNAS mutations as prognostic biomarker in patients with relapsed peritoneal pseudomyxoma receiving metronomic capecitabine and bevacizumab: a clinical and translational study. PMID:27154293
Identification of QTL on Chromosome 18 Associated with Non-Coagulating Milk in Swedish Red Cows. PMID:27148354
Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation. PMID:27146671
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease. PMID:27135400
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility. PMID:27132594
Multi-omic data integration and analysis using systems genomics approaches: methods and applications in animal production, health and welfare. PMID:27130220
Incorporating Non-Coding Annotations into Rare Variant Analysis. PMID:27128317
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. PMID:27120335
Separating the wheat from the chaff: systematic identification of functionally relevant noncoding variants in ADHD. PMID:27113999
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. PMID:27111036
Biallelic BRCA2 Mutations Shape the Somatic Mutational Landscape of Aggressive Prostate Tumors. PMID:27087322
A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred. PMID:27081527
Rapid evolution of the intersexual genetic correlation for fitness in Drosophila melanogaster. PMID:27077679
The Use of Genomics in Conservation Management of the Endangered Visayan Warty Pig (Sus cebifrons). PMID:27069913
Haploinsufficiency for NR3C1, the gene encoding the glucocorticoid receptor, in blastic plasmacytoid dendritic cell neoplasms. PMID:27060168
FgPrp4 Kinase Is Important for Spliceosome B-Complex Activation and Splicing Efficiency in Fusarium graminearum. PMID:27058959
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. PMID:27050191
Systematic identification of genetic influences on methylation across the human life course. PMID:27036880
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle. PMID:27036302
The degree of intratumor mutational heterogeneity varies by primary tumor sub-site. PMID:27034009
Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms. PMID:27029036
Dynamic epigenetic changes to VHL occur with sunitinib in metastatic clear cell renal cancer. PMID:27029034
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease. PMID:27026413
Independent Origins of Yeast Associated with Coffee and Cacao Fermentation. PMID:27020745
Genome-wide association analysis of milk yield traits in Nordic Red Cattle using imputed whole genome sequence variants. PMID:27006194
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. PMID:27001614
Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions. PMID:26993986
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. PMID:26993267
Dynamic changes of driver genes' mutations across clinical stages in nine cancer types. PMID:26992457
dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions. PMID:26989155
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved? PMID:26988438
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. PMID:26974950
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. PMID:26974007
The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution. PMID:26966016
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. PMID:26965164
In Silico Identification of Candidate Genes for Fertility Restoration in Cytoplasmic Male Sterile Perennial Ryegrass (Lolium perenne L.). PMID:26951780
Identification of quantitative trait loci and candidate genes for an anxiolytic-like response to ethanol in BXD recombinant inbred strains. PMID:26948279
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. PMID:26938784
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death. PMID:26933038
Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine. PMID:26927186
Establishment and characterisation of patient-derived xenografts as paraclinical models for gastric cancer. PMID:26926953
A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle. PMID:26923438
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material. PMID:26919633
Ensembl regulation resources. PMID:26888907
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. PMID:26888179
Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair. PMID:26876963
A Phylogenetic and Phenotypic Analysis of Salmonella enterica Serovar Weltevreden, an Emerging Agent of Diarrheal Disease in Tropical Regions. PMID:26867150
Digital Sorting of Pure Cell Populations Enables Unambiguous Genetic Analysis of Heterogeneous Formalin-Fixed Paraffin-Embedded Tumors by Next Generation Sequencing. PMID:26864208
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. PMID:26857349
Weighting sequence variants based on their annotation increases power of whole-genome association studies. PMID:26854916
Positive selection in the SLC11A1 gene in the family Equidae. PMID:26846480
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome. PMID:26841357
HLA class II sequence variants influence tuberculosis risk in populations of European ancestry. PMID:26829749
pVAC-Seq: A genome-guided in silico approach to identifying tumor neoantigens. PMID:26825632
Frequent variations in cancer-related genes may play prognostic role in treatment of patients with chronic myeloid leukemia. PMID:26822197
Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms. PMID:26796102
Variations in ORAI1 Gene Associated with Kawasaki Disease. PMID:26789410
Role of non-coding sequence variants in cancer. PMID:26781813
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes. PMID:26781712
Diffuse large B-cell lymphoma patient-derived xenograft models capture the molecular and biological heterogeneity of the disease. PMID:26773040
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data. PMID:26764020
Identification of genomic variants putatively targeted by selection during dog domestication. PMID:26754411
Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts. PMID:26746786
BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing. PMID:26745875
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. PMID:26740553
UCSC Data Integrator and Variant Annotation Integrator. PMID:26740527
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. PMID:26735901
Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus. PMID:26721477
Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians. PMID:26719974
BigQ: a NoSQL based framework to handle genomic variants in i2b2. PMID:26714792
Evaluation of a DLA-79 allele associated with multiple immune-mediated diseases in dogs. PMID:26711123
Erk5 contributes to maintaining the balance of cellular nucleotide levels and erythropoiesis. PMID:26697837
Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate. PMID:26692521
Ensembl 2016. PMID:26687719
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. PMID:26684649
Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders. PMID:26684335
Whole-exome tumor sequencing study in biliary cancer patients with a response to MEK inhibitors. PMID:26683364
Mutational analysis of pulmonary tumours with neuroendocrine features using targeted massive parallel sequencing: a comparison of a neglected tumour group. PMID:26645239
The Extent of mRNA Editing Is Limited in Chicken Liver and Adipose, but Impacted by Tissular Context, Genotype, Age, and Feeding as Exemplified with a Conserved Edited Site in COG3. PMID:26637431
MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours. PMID:26635203
Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 That Confer Risk for Type 1 Diabetes. PMID:26631741
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. PMID:26626625
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. PMID:26619011
Integrated genomic characterization of IDH1-mutant glioma malignant progression. PMID:26618343
GWASdb v2: an update database for human genetic variants identified by genome-wide association studies. PMID:26615194
The UCSC Genome Browser database: 2016 update. PMID:26590259
WormBase 2016: expanding to enable helminth genomic research. PMID:26578572
Shifts in rDNA levels act as a genome buffer promoting chromosome homeostasis. PMID:26566866
Genome-Wide Estimates of Mutation Rates and Spectrum in Schizosaccharomyces pombe Indicate CpG Sites are Highly Mutagenic Despite the Absence of DNA Methylation. PMID:26564949
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs. PMID:26555599
Rapid whole genome sequencing and precision neonatology. PMID:26521050
TransVar: a multilevel variant annotator for precision genomics. PMID:26513549
Genome sequencing of the extinct Eurasian wild aurochs, Bos primigenius, illuminates the phylogeography and evolution of cattle. PMID:26498365
A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces. PMID:26485003
An integrative systems genetics approach reveals potential causal genes and pathways related to obesity. PMID:26482556
Design and Implementation of the International Genetics and Translational Research in Transplantation Network. PMID:26479416
PhytoPath: an integrative resource for plant pathogen genomics. PMID:26476449
Association mapping by pooled sequencing identifies TOLL 11 as a protective factor against Plasmodium falciparum in Anopheles gambiae. PMID:26462916
Genome-wide association study of body mass index in subjects with alcohol dependence. PMID:26458734
Functional Analyses of Transcription Factor Binding Sites that Differ between Present-Day and Archaic Humans. PMID:26454764
Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses. PMID:26452642
Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing. PMID:26449678
Alternative transcription initiation leads to expression of a novel ALK isoform in cancer. PMID:26444240
Genome-wide association study dissects genetic architecture underlying longitudinal egg weights in chickens. PMID:26438435
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. PMID:26437029
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. PMID:26419432
Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2. PMID:26406445
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families. PMID:26403419
WGSA: an annotation pipeline for human genome sequencing studies. PMID:26395054
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. PMID:26390057
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. PMID:26379229
Polymorphism profiling of nine high altitude relevant candidate gene loci in acclimatized sojourners and adapted natives. PMID:26373931
BET inhibitor resistance emerges from leukaemia stem cells. PMID:26367796
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. PMID:26367794
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. PMID:26366554
Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes. PMID:26358132
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. PMID:26350204
Regulatory Divergence of Transcript Isoforms in a Mammalian Model System. PMID:26339903
Truncation of POC1A associated with short stature and extreme insulin resistance. PMID:26336158
Comparative "-omics" in Mycoplasma pneumoniae Clinical Isolates Reveals Key Virulence Factors. PMID:26335586
Promising Loci and Genes for Yolk and Ovary Weight in Chickens Revealed by a Genome-Wide Association Study. PMID:26332579
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease. PMID:26327206
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. PMID:26315209
Genomic Variants Revealed by Invariably Missing Genotypes in Nelore Cattle. PMID:26305794
Comparative genomics reveals multistep pathogenesis of E2A-PBX1 acute lymphoblastic leukemia. PMID:26301816
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. PMID:26301688
Smoking Gun or Circumstantial Evidence? Comparison of Statistical Learning Methods using Functional Annotations for Prioritizing Risk Variants. PMID:26300220
Comparison of significant single nucleotide polymorphisms selections in GWAS for complex traits. PMID:26294278
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. PMID:26283626
Common and rare variants associated with kidney stones and biochemical traits. PMID:26272126
Comparison of predicted and actual consequences of missense mutations. PMID:26269570
Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis. PMID:26264438
Comparison against 186 canid whole-genome sequences reveals survival strategies of an ancient clonally transmissible canine tumor. PMID:26232412
MAC: identifying and correcting annotation for multi-nucleotide variations. PMID:26231518
Improving the Sequence Ontology terminology for genomic variant annotation. PMID:26229585
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes. PMID:26229552
Genome-wide association study revealed a promising region and candidate genes for eggshell quality in an F2 resource population. PMID:26228268
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER. PMID:26220709
VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files. PMID:26210358
Implementation of genome-wide complex trait analysis to quantify the heritability in multiple myeloma. PMID:26208354
Runs of homozygosity and distribution of functional variants in the cattle genome. PMID:26198692
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. PMID:26192085
Homozygous loss-of-function variants in European cosmopolitan and isolate populations. PMID:26173456
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. PMID:26168268
Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina Sequencing. PMID:26165823
Strategies for fine-mapping complex traits. PMID:26157023
Next Generation Semiconductor Based Sequencing of the Donkey (Equus asinus) Genome Provided Comparative Sequence Data against the Horse Genome and a Few Millions of Single Nucleotide Polymorphisms. PMID:26151450
Novel scripts for improved annotation and selection of variants from whole exome sequencing in cancer research. PMID:26150983
The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data. PMID:26147798
DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation. PMID:26137478
A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition. PMID:26135620
Informatics resources for the Collaborative Cross and related mouse populations. PMID:26135136
The Mouse Genomes Project: a repository of inbred laboratory mouse strain genomes. PMID:26123534
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. PMID:26113417
Computational methods and resources for the interpretation of genomic variants in cancer. PMID:26111056
Disease-associated variants in different categories of disease located in distinct regulatory elements. PMID:26110593
Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction. PMID:26110515
Better prediction of functional effects for sequence variants. PMID:26110438
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. PMID:26106619
Loss-of-function variants in ATM confer risk of gastric cancer. PMID:26098866
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. PMID:26084686
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. PMID:26073755
Using genome-wide measures of coancestry to maintain diversity and fitness in endangered and domestic pig populations. PMID:26063737
Integrative network-based approach identifies key genetic elements in breast invasive carcinoma. PMID:26040466
Whole Genome Sequencing Investigation of a Tuberculosis Outbreak in Port-au-Prince, Haiti Caused by a Strain with a "Low-Level" rpoB Mutation L511P - Insights into a Mechanism of Resistance Escalation. PMID:26039194
Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty. PMID:26030606
Genome-Wide Characterization of RNA Editing in Chicken Embryos Reveals Common Features among Vertebrates. PMID:26024316
Whole genome prediction for preimplantation genetic diagnosis. PMID:26019723
Protracted dormancy of pre-leukemic stem cells. PMID:26017033
Using whole-genome sequences of the LG/J and SM/J inbred mouse strains to prioritize quantitative trait genes and nucleotides. PMID:26016481
Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. PMID:26007630
Comprehensive genome-wide evaluation of lapatinib-induced liver injury yields a single genetic signal centered on known risk allele HLA-DRB1*07:01. PMID:25987243
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. PMID:25985138
Sequence variants from whole genome sequencing a large group of Icelanders. PMID:25977816
Genomes and phenomes of a population of outbred rats and its progenitors. PMID:25977769
New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. PMID:25948282
The Kalash genetic isolate: ancient divergence, drift, and selection. PMID:25937445
Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa. PMID:25935160
Differential Natural Selection of Human Zinc Transporter Genes between African and Non-African Populations. PMID:25927708
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. PMID:25917818
Characterization and identification of hidden rare variants in the human genome. PMID:25903059
Synthetic viability genomic screening defines Sae2 function in DNA repair. PMID:25899817
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. PMID:25898808
WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data. PMID:25890833
Fastq2vcf: a concise and transparent pipeline for whole-exome sequencing data analyses. PMID:25889517
A hidden Markov approach for ascertaining cSNP genotypes from RNA sequence data in the presence of allelic imbalance by exploiting linkage disequilibrium. PMID:25887316
SNPchiMp v.3: integrating and standardizing single nucleotide polymorphism data for livestock species. PMID:25881165
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. PMID:25871441
Decoding the regulatory landscape of melanoma reveals TEADS as regulators of the invasive cell state. PMID:25865119
A decision support framework for genomically informed investigational cancer therapy. PMID:25863335
Reduced Representation Libraries from DNA Pools Analysed with Next Generation Semiconductor Based-Sequencing to Identify SNPs in Extreme and Divergent Pigs for Back Fat Thickness. PMID:25821781
Exome and transcriptome sequencing of Aedes aegypti identifies a locus that confers resistance to Brugia malayi and alters the immune response. PMID:25815506
High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer. PMID:25808843
Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC. PMID:25799584
Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PMID:25798845
A deep catalog of autosomal single nucleotide variation in the pig. PMID:25789620
In-silico analysis of inflammatory bowel disease (IBD) GWAS loci to novel connections. PMID:25786114
VaRank: a simple and powerful tool for ranking genetic variants. PMID:25780760
Homologous Mutation to Human BRAF V600E Is Common in Naturally Occurring Canine Bladder Cancer--Evidence for a Relevant Model System and Urine-Based Diagnostic Test. PMID:25767210
Reducing the search space for causal genetic variants with VASP. PMID:25755272
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. PMID:25751624
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients. PMID:25742471
Genetic variations in magnesium-related ion channels may affect diabetes risk among African American and Hispanic American women. PMID:25733456
mRNA profiling reveals determinants of trastuzumab efficiency in HER2-positive breast cancer. PMID:25710561
Rare variant association studies: considerations, challenges and opportunities. PMID:25709717
Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver. PMID:25706643
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. PMID:25704602
Oncotator: cancer variant annotation tool. PMID:25703262
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. PMID:25684150
Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors. PMID:25670082
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing. PMID:25634236
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. PMID:25625282
Decatransin, a new natural product inhibiting protein translocation at the Sec61/SecYEG translocon. PMID:25616894
Functional consequence of the MET-T1010I polymorphism in breast cancer. PMID:25605252
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. PMID:25589632
Genetic mapping of MAPK-mediated complex traits Across S. cerevisiae. PMID:25569670
Analysis of individual protein regions provides novel insights on cancer pharmacogenomics. PMID:25568936
Application of quantitative trait locus mapping and transcriptomics to studies of the senescence-accelerated phenotype in rats. PMID:25563673
Genome-wide association study of Fusarium ear rot disease in the U.S.A. maize inbred line collection. PMID:25547028
Allele Workbench: transcriptome pipeline and interactive graphics for allele-specific expression. PMID:25541944
An integrated transcriptome and expressed variant analysis of sepsis survival and death. PMID:25538794
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. PMID:25529582
VectorBase: an updated bioinformatics resource for invertebrate vectors and other organisms related with human diseases. PMID:25510499
Natural CMT2 variation is associated with genome-wide methylation changes and temperature seasonality. PMID:25503602
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. PMID:25497877
Neurobeachin is required postsynaptically for electrical and chemical synapse formation. PMID:25484298
Association mapping across numerous traits reveals patterns of functional variation in maize. PMID:25474422
Approaches for establishing the function of regulatory genetic variants involved in disease. PMID:25473428
Computational approaches to interpreting genomic sequence variation. PMID:25473426
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. PMID:25473036
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. PMID:25472942
Triticeae resources in Ensembl Plants. PMID:25432969
SNiPA: an interactive, genetic variant-centered annotation browser. PMID:25431330
Predicting immunogenic tumour mutations by combining mass spectrometry and exome sequencing. PMID:25428506
The UCSC Genome Browser database: 2015 update. PMID:25428374
SF3B1 mutations constitute a novel therapeutic target in breast cancer. PMID:25424858
Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration. PMID:25422373
Comprehensive characterization of the genomic alterations in human gastric cancer. PMID:25422082
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. PMID:25401298
Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy. PMID:25388448
Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes. PMID:25387709
Systematic analysis of noncoding somatic mutations and gene expression alterations across 14 tumor types. PMID:25383969
Approximation to the distribution of fitness effects across functional categories in human segregating polymorphisms. PMID:25375159
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. PMID:25356967
COSMIC: exploring the world's knowledge of somatic mutations in human cancer. PMID:25355519
The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing. PMID:25355294
Ensembl 2015. PMID:25352552
Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population. PMID:25350283
Genetic and metabolic determinants of methotrexate-induced mucositis in pediatric acute lymphoblastic leukemia. PMID:25348617
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. PMID:25344692
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. PMID:25342064
Genetic influences on translation in yeast. PMID:25340754
Re-sequencing data for refining candidate genes and polymorphisms in QTL regions affecting adiposity in chicken. PMID:25333370
The cavefish genome reveals candidate genes for eye loss. PMID:25329095
MBASED: allele-specific expression detection in cancer tissues and cell lines. PMID:25315065
VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants. PMID:25306238
A meta-analysis of gene expression quantitative trait loci in brain. PMID:25290266
Integrative post-genome-wide association analysis of CDKN2A and TP53 SNPs and risk of esophageal adenocarcinoma. PMID:25280564
FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer. PMID:25273974
A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature. PMID:25273102
Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity. PMID:25273069
Erbb2 is required for cardiac atrial electrical activity during development. PMID:25269082
Mouse ENU Mutagenesis to Understand Immunity to Infection: Methods, Selected Examples, and Perspectives. PMID:25268389
Catalytic mTOR inhibitors can overcome intrinsic and acquired resistance to allosteric mTOR inhibitors. PMID:25261369
Genome analysis of a major urban malaria vector mosquito, Anopheles stephensi. PMID:25244985
The Ensembl REST API: Ensembl Data for Any Language. PMID:25236461
Fine mapping QTL for female fertility on BTA04 and BTA13 in dairy cattle using HD SNP and sequence data. PMID:25216717
Sequencing and de novo transcriptome assembly of Brachypodium sylvaticum (Poaceae). PMID:25202520
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. PMID:25192044
The olfactory transcriptomes of mice. PMID:25187969
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. PMID:25187353
A test for ancient selective sweeps and an application to candidate sites in modern humans. PMID:25172957
In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. PMID:25153125
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. PMID:25105364
Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences. PMID:25062004
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study. PMID:25009551
Expanding the computational toolbox for mining cancer genomes. PMID:25001846
Refined mapping of a hypertension susceptibility locus on rat chromosome 12. PMID:25001272
Design and development of exome capture sequencing for the domestic pig (Sus scrofa). PMID:24988888
Choice of transcripts and software has a large effect on variant annotation. PMID:24944579
Ultraviolet radiation accelerates BRAF-driven melanomagenesis by targeting TP53. PMID:24919155
Identification of candidate risk gene variations by whole-genome sequence analysis of four rat strains commonly used in inflammation research. PMID:24885425
Concordance analysis for QTL detection in dairy cattle: a case study of leg morphology. PMID:24884971
Increased genetic diversity of ADME genes in African Americans compared with their putative ancestral source populations and implications for pharmacogenomics. PMID:24884825
High-definition reconstruction of clonal composition in cancer. PMID:24882004
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. PMID:24878229
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. PMID:24847005
De novo transcriptome assembly and analyses of gene expression during photomorphogenesis in diploid wheat Triticum monococcum. PMID:24821410
Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. PMID:24821223
Genetic association of the tachykinin receptor 1 TACR1 gene in bipolar disorder, attention deficit hyperactivity disorder, and the alcohol dependence syndrome. PMID:24817687
The personal genome browser: visualizing functions of genetic variants. PMID:24799434
Bioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment. PMID:24752294
Genetic control of differential acetylation in diabetic rats. PMID:24743600
Heritability and genomics of gene expression in peripheral blood. PMID:24728292
Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX. PMID:24722405
Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair. PMID:24717843
Rare variants in NR2F2 cause congenital heart defects in humans. PMID:24702954
A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. PMID:24699068
Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations. PMID:24689077
POT1 loss-of-function variants predispose to familial melanoma. PMID:24686849
VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants. PMID:24681907
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. PMID:24680889
Characterisation of genetic variation in ST8SIA2 and its interaction region in NCAM1 in patients with bipolar disorder. PMID:24651862
Genomic structure of nucleotide diversity among Lyon rat models of metabolic syndrome. PMID:24628878
Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins. PMID:24626529
Mutations in TJP2 cause progressive cholestatic liver disease. PMID:24614073
Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia. PMID:24514424
Functional annotation of noncoding sequence variants. PMID:24487584
A general framework for estimating the relative pathogenicity of human genetic variants. PMID:24487276
Alu elements shape the primate transcriptome by cis-regulation of RNA editing. PMID:24485196
Non-synonymous variations in cancer and their effects on the human proteome: workflow for NGS data biocuration and proteome-wide analysis of TCGA data. PMID:24467687
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. PMID:24464100
Transmissible [corrected] dog cancer genome reveals the origin and history of an ancient cell lineage. PMID:24458646
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. PMID:24456803
STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud. PMID:24454756
Transcriptome-wide investigation of genomic imprinting in chicken. PMID:24452801
Integrated analysis of germline and somatic variants in ovarian cancer. PMID:24448499
Evidence for positive selection of taurine genes within a QTL region on chromosome X associated with testicular size in Australian Brahman cattle. PMID:24410912
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. PMID:24406459
The temporal foliar transcriptome of the perennial C3 desert plant Rhazya stricta in its natural environment. PMID:24387666
Low frequency variants, collapsed based on biological knowledge, uncover complexity of population stratification in 1000 genomes project data. PMID:24385916
A review of post-GWAS prioritization approaches. PMID:24367376
Comprehensive analysis of transcriptome variation uncovers known and novel driver events in T-cell acute lymphoblastic leukemia. PMID:24367274
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. PMID:24360809
Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset. PMID:24348229
The high polyphenol content of grapevine cultivar tannat berries is conferred primarily by genes that are not shared with the reference genome. PMID:24319081
Ensembl 2014. PMID:24316576
NECTAR: a database of codon-centric missense variant annotations. PMID:24297257
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. PMID:24290375
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants. PMID:24285302
The European Bioinformatics Institute's data resources 2014. PMID:24271396
The UCSC Genome Browser database: 2014 update. PMID:24270787
DriverDB: an exome sequencing database for cancer driver gene identification. PMID:24214964
CanDrA: cancer-specific driver missense mutation annotation with optimized features. PMID:24205039
Identification of candidate genes and mutations in QTL regions for chicken growth using bioinformatic analysis of NGS and SNP-chip data. PMID:24204379
Genome-wide analysis of HPV integration in human cancers reveals recurrent, focal genomic instability. PMID:24201445
Large-scale mass spectrometric detection of variant peptides resulting from nonsynonymous nucleotide differences. PMID:24175627
Mapping genetic modifiers of survival in a mouse model of Dravet syndrome. PMID:24152123
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. PMID:24150940
Extreme growth failure is a common presentation of ligase IV deficiency. PMID:24123394
Intratumoral genetic heterogeneity in metastatic melanoma is accompanied by variation in malignant behaviors. PMID:24119551
Monophyly of Wolbachia pipientis genomes within Drosophila melanogaster: geographic structuring, titre variation and host effects across five populations. PMID:24118111
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. PMID:24097065
Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia. PMID:24093751
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. PMID:24092820
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. PMID:24076602
Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm. PMID:24072100
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing. PMID:24001973
Endogenous retrovirus EAV-HP linked to blue egg phenotype in Mapuche fowl. PMID:23990950
Computational approaches to identify functional genetic variants in cancer genomes. PMID:23900255
Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat. PMID:23890820
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. PMID:23881933
GEMINI: integrative exploration of genetic variation and genome annotations. PMID:23874191
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. PMID:23849776
Female-specific hypertension loci on rat chromosome 13. PMID:23817491
Recalibrating Equus evolution using the genome sequence of an early Middle Pleistocene horse. PMID:23803765
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. PMID:23768512
Isolation and high-throughput sequencing of two closely linked epistatic hypertension susceptibility loci with a panel of bicongenic strains. PMID:23757393
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. PMID:23750167
GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications. PMID:23723249
Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. PMID:23708188
Gene polymorphisms in African buffalo associated with susceptibility to bovine tuberculosis infection. PMID:23691232
Genetic architecture of Wistar-Kyoto rat and spontaneously hypertensive rat substrains from different sources. PMID:23673728
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. PMID:23664120
Candidate gene association studies: a comprehensive guide to useful in silico tools. PMID:23656885
Gene-based single nucleotide polymorphism discovery in bovine muscle using next-generation transcriptomic sequencing. PMID:23651547
Chapter 15: disease gene prioritization. PMID:23633938
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. PMID:23631824
RUbioSeq: a suite of parallelized pipelines to automate exome variation and bisulfite-seq analyses. PMID:23630175
Genomic analysis of a novel spontaneous albino C57BL/6N mouse strain. PMID:23620107
A systematic genome-wide analysis of zebrafish protein-coding gene function. PMID:23594742
A sequence-based variation map of zebrafish. PMID:23590399
SMIM1 underlies the Vel blood group and influences red blood cell traits. PMID:23563608
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. PMID:23552953
Dissecting structural and nucleotide genome-wide variation in inbred Iberian pigs. PMID:23497037
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. PMID:23487782
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. PMID:23352160
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. PMID:23349334
A survey of tools for variant analysis of next-generation genome sequencing data. PMID:23341494
De novo transcriptome characterization of Vitis vinifera cv. Corvina unveils varietal diversity. PMID:23331995
RNA-seq-based mapping and candidate identification of mutations from forward genetic screens. PMID:23299976
Characterization of LEDGF/p75 genetic variants and association with HIV-1 disease progression. PMID:23226247
Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions. PMID:23205178
Ensembl 2013. PMID:23203987
DbVar and DGVa: public archives for genomic structural variation. PMID:23193291
Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation. PMID:23181723
Novel SNP Discovery in African Buffalo, Syncerus caffer, using high-throughput Sequencing. PMID:23144973
Interpreting noncoding genetic variation in complex traits and human disease. PMID:23138309
CooVar: co-occurring variant analyzer. PMID:23116482
EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics. PMID:23095660
Fine mapping of complex traits in non-model species: using next generation sequencing and advanced intercross lines in Japanese quail. PMID:23066875
Olorin: combining gene flow with exome sequencing in large family studies of complex disease. PMID:23052039
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. PMID:23035047
Genome and transcriptome sequencing of lung cancers reveal diverse mutational and splicing events. PMID:23033341
VarioML framework for comprehensive variation data representation and exchange. PMID:23031277
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PMID:23028338
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. PMID:22962312
A high-coverage genome sequence from an archaic Denisovan individual. PMID:22936568
Sequencing and characterization of the FVB/NJ mouse genome. PMID:22916792
The UCSC genome browser and associated tools. PMID:22908213
Functional impact bias reveals cancer drivers. PMID:22904074
Identification of hypertension susceptibility loci on rat chromosome 12. PMID:22868394
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. PMID:22863195
VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing. PMID:22693211
New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. PMID:22675518
Mutation mapping and identification by whole-genome sequencing. PMID:22555591
The 1000 Genomes Project: data management and community access. PMID:22543379
Genetic basis of transcriptome differences between the founder strains of the rat HXB/BXH recombinant inbred panel. PMID:22541052
Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq. PMID:22471526
Catalog of microRNA seed polymorphisms in vertebrates. PMID:22303453
Bioinformatics for personal genome interpretation. PMID:22247263
Whole genome sequencing of matched primary and metastatic acral melanomas. PMID:22183965
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability. PMID:22182939
Next-generation sequencing for cancer diagnostics: a practical perspective. PMID:22147957
NovelSNPer: A Fast Tool for the Identification and Characterization of Novel SNPs and InDels. PMID:22110502
Ensembl 2012. PMID:22086963
Ensembl BioMarts: a hub for data retrieval across taxonomic space. PMID:21785142
Precise manipulation of chromosomes in vivo enables genome-wide codon replacement. PMID:21764749
Ensembl 2011. PMID:21045057
PICMI: mapping point mutations on genomes. PMID:20940168
Ensembl 2014 PubMed citations: 795.

795 articles citing: Ensembl 2014

Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation. PMID:35864526
Construction of a Novel circRNA/miRNA/mRNA Regulatory Network to Explore the Potential Pathogenesis of Wilson's Disease. PMID:35784724
Pilot study of bempegaldesleukin in combination with nivolumab in patients with metastatic sarcoma. PMID:35710741
Delayed processing of blood samples impairs the accuracy of mRNA-based biomarkers. PMID:35581252
The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation. PMID:35379293
Multi-omics-based label-free metabolic flux inference reveals obesity-associated dysregulatory mechanisms in liver glucose metabolism. PMID:35243212
Transcriptomic Profile of Canine DH82 Macrophages Infected by Leishmania infantum Promastigotes with Different Virulence Behavior. PMID:35163386
Early DNA methylation changes in children developing beta cell autoimmunity at a young age. PMID:35142878
A platform for oncogenomic reporting and interpretation. PMID:35140225
Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes. PMID:35121966
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences. PMID:35104841
Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0. PMID:35072799
Analysis of the Batch Effect Due to Sequencing Center in Population Statistics Quantifying Rare Events in the 1000 Genomes Project. PMID:35052384
Ischemic Heart Disease Selectively Modifies the Right Atrial Appendage Transcriptome. PMID:34926599
MYC assembles and stimulates topoisomerases 1 and 2 in a "topoisome". PMID:34890565
Limited Introgression between Rock-Wallabies with Extensive Chromosomal Rearrangements. PMID:34865126
Prediction of functional microexons by transfer learning. PMID:34836511
Drought Stress-Mediated Transcriptome Profile Reveals NCED as a Key Player Modulating Drought Tolerance in Populus davidiana. PMID:34777433
Isolation of high-quality total RNA and RNA sequencing of single bovine oocytes. PMID:34723212
Identification of Endothelial Proteins in Plasma Associated With Cardiovascular Risk Factors. PMID:34706560
Chromosome-scale assembly and high-density genetic map of the yellow drum, Nibea albiflora. PMID:34654820
Single paternal dexamethasone challenge programs offspring metabolism and reveals multiple candidates in RNA-mediated inheritance. PMID:34386731
Identification of GH17 gene family in Vitis vinifera and expression analysis of GH17 under various adversities. PMID:34366587
miR-208b Reduces the Expression of Kcnj5 in a Cardiomyocyte Cell Line. PMID:34201741
Differential Transcript Profiles in Cumulus-Oocyte Complexes Originating from Pre-Ovulatory Follicles of Varied Physiological Maturity in Beef Cows. PMID:34200628
Robustness of differential gene expression analysis of RNA-seq. PMID:34188784
A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion. PMID:34183069
The Gene Expression Profile of the Song Control Nucleus HVC Shows Sex Specificity, Hormone Responsiveness, and Species Specificity Among Songbirds. PMID:34135731
ExTraMapper: Exon- and Transcript-level mappings for orthologous gene pairs. PMID:34014317
In Silico Analysis of Huntingtin Homologs in Lower Eukaryotes. PMID:33809947
Key Genes Regulating Skeletal Muscle Development and Growth in Farm Animals. PMID:33809500
Post-treatment cell-free DNA as a predictive biomarker in molecular-targeted therapy of hepatocellular carcinoma. PMID:33712873
Protein domain identification methods and online resources. PMID:33680357
Nine-long non-coding ribonucleic acid signature can improve the survival prediction of colorectal cancer. PMID:33643540
Cytoplasmic cleavage of IMPA1 3' UTR is necessary for maintaining axon integrity. PMID:33626357
Genome-wide transcriptome study using deep RNA sequencing for myocardial infarction and coronary artery calcification. PMID:33568140
IsomiR_Window: a system for analyzing small-RNA-seq data in an integrative and user-friendly manner. PMID:33522913
Deregulation of a Cis-Acting lncRNA in Non-small Cell Lung Cancer May Control HMGA1 Expression. PMID:33505435
Crosstalk between codon optimality and cis-regulatory elements dictates mRNA stability. PMID:33402205
Assessment of Autism Zebrafish Mutant Models Using a High-Throughput Larval Phenotyping Platform. PMID:33330465
Identification of novel alternative splicing biomarkers for breast cancer with LC/MS/MS and RNA-Seq. PMID:33272210
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. PMID:33230297
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. PMID:33131181
Rewiring of gene expression in circulating white blood cells is associated with pregnancy outcome in heifers (Bos taurus). PMID:33033295
Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians. PMID:33005019
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. PMID:32973342
Connecting the Missing Dots: ncRNAs as Critical Regulators of Therapeutic Susceptibility in Breast Cancer. PMID:32967267
Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family. PMID:32705272
Long noncoding RNA H19X is a key mediator of TGF-β-driven fibrosis. PMID:32603313
Human ARF Specifically Inhibits Epimorphic Regeneration in the Zebrafish Heart. PMID:32570883
Substrate specificity of the TRAMP nuclear surveillance complexes. PMID:32561742
Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case-Control and Populational Study. PMID:32547005
Properties of structural variants and short tandem repeats associated with gene expression and complex traits. PMID:32522982
Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners. PMID:32489792
Personalized whole-body models integrate metabolism, physiology, and the gut microbiome. PMID:32463598
Regulation of hepatic microRNAs in response to early stage Echinococcus multilocularis egg infection in C57BL/6 mice. PMID:32442168
Guppy Y Chromosome Integrity Maintained by Incomplete Recombination Suppression. PMID:32426836
Complex Analysis of Retroposed Genes' Contribution to Human Genome, Proteome and Transcriptome. PMID:32408516
The First Draft Genome of the Plasterer Bee Colletes gigas (Hymenoptera: Colletidae: Colletes). PMID:32386319
SMaRT lncRNA controls translation of a G-quadruplex-containing mRNA antagonizing the DHX36 helicase. PMID:32337838
Interference With Complex IV as a Model of Age-Related Decline in Synaptic Connectivity. PMID:32265651
RNA-seq data of soleus muscle tissue after spinal cord injury under conditions of inactivity and applied exercise. PMID:32226812
MicroRNA-126-3p Inhibits Angiogenic Function of Human Lung Microvascular Endothelial Cells via LAT1 (L-Type Amino Acid Transporter 1)-Mediated mTOR (Mammalian Target of Rapamycin) Signaling. PMID:32212853
Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes. PMID:32203388
B Cells as Prognostic Biomarker After Surgery for Colorectal Liver Metastases. PMID:32195184
Jumping translocations of 1q in donor cell-derived myelodysplastic syndrome after cord blood transplantation: Case report and review of the literature. PMID:32190321
KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing. PMID:32133509
Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk. PMID:32128252
CHG: A Systematically Integrated Database of Cancer Hallmark Genes. PMID:32117445
Purifying selection of long dsRNA is the first line of defense against false activation of innate immunity. PMID:32028986
Vav2 lacks Ca2+ entry-promoting scaffolding functions unique to Vav1 and inhibits T cell activation via Cdc42. PMID:31974114
Enhancer-gene maps in the human and zebrafish genomes using evolutionary linkage conservation. PMID:31943068
Nitric oxide- induced AtAO3 differentially regulates plant defense and drought tolerance in Arabidopsis thaliana. PMID:31888479
miR-10a-5p and miR-29b-3p as Extracellular Vesicle-Associated Prostate Cancer Detection Markers. PMID:31877768
Fluorouracil sensitivity in a head and neck squamous cell carcinoma with a somatic DPYD structural variant. PMID:31871216
Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania. PMID:31844061
Genetic Predisposition to Glioma Mediated by a MAPKAP1 Enhancer Variant. PMID:31773361
Massive Loss of Olfactory Receptors But Not Trace Amine-Associated Receptors in the World's Deepest-Living Fish (Pseudoliparis swirei). PMID:31717379
Chromosome genome assembly and annotation of the yellowbelly pufferfish with PacBio and Hi-C sequencing data. PMID:31704938
Increased calcium channel in the lamina propria of aging rat. PMID:31682233
R-Loops Promote Antisense Transcription across the Mammalian Genome. PMID:31679819
Detection of gene mutations in gastric cancer tissues using a commercial sequencing panel. PMID:31620276
Cell fate analysis in fetal mouse lung reveals distinct pathways for TI and TII cell development. PMID:31432712
Gene Fusions Derived by Transcriptional Readthrough are Driven by Segmental Duplication in Human. PMID:31400206
Computational Analysis of HLA-presentation of Non-synonymous Recipient Mismatches Indicates Effect on the Risk of Chronic Graft-vs.-Host Disease After Allogeneic HSCT. PMID:31379830
FoxH1 represses miR-430 during early embryonic development of zebrafish via non-canonical regulation. PMID:31362746
Challenges in funding and developing genomic software: roots and remedies. PMID:31358028
An effective biomedical data migration tool from resource description framework to JSON. PMID:31343683
ADGRL4/ELTD1 is a highly conserved angiogenesis-associated orphan adhesion GPCR that emerged with the first vertebrates and comprises 3 evolutionary variants. PMID:31299890
Insula serotonin 2A receptor binding and gene expression contribute to serotonin transporter polymorphism anxious phenotype in primates. PMID:31266890
Expansion of vomeronasal receptor genes (OlfC) in the evolution of fright reaction in Ostariophysan fishes. PMID:31263779
RNA sequencing dataset characterizing transcriptomic responses to dietary changes in Caenorhabditis elegans. PMID:31223636
Complement Receptor 1 availability on red blood cell surface modulates Plasmodium vivax invasion of human reticulocytes. PMID:31221984
Activity/exercise-induced changes in the liver transcriptome after chronic spinal cord injury. PMID:31197156
Transcriptome of dorsal root ganglia caudal to a spinal cord injury with modulated behavioral activity. PMID:31175296
Transcriptome Changes in Relation to Manic Episode. PMID:31118907
Genetic mechanism underlying sexual plasticity and its association with colour patterning in zebrafish (Danio rerio). PMID:31060508
The long non-coding RNA Cerox1 is a post transcriptional regulator of mitochondrial complex I catalytic activity. PMID:31045494
Fine-tuned adaptation of embryo-endometrium pairs at implantation revealed by transcriptome analyses in Bos taurus. PMID:30978203
Epigenetic-genetic chromatin footprinting identifies novel and subject-specific genes active in prefrontal cortex neurons. PMID:30970224
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. PMID:30926958
Characterizing human genomic coevolution in locus-gene regulatory interactions. PMID:30923571
The mouse KLF1 Nan variant impairs nuclear condensation and erythroid maturation. PMID:30921348
Aberrant Expression of Pseudogene-Derived lncRNAs as an Alternative Mechanism of Cancer Gene Regulation in Lung Adenocarcinoma. PMID:30894871
The epg5 knockout zebrafish line: a model to study Vici syndrome. PMID:30806141
Repurposing of Drugs as Novel Influenza Inhibitors From Clinical Gene Expression Infection Signatures. PMID:30761132
A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer. PMID:30738427
Molecular interactions between Hel2 and RNA supporting ribosome-associated quality control. PMID:30718516
Genome sequence of the barred knifejaw Oplegnathus fasciatus (Temminck & Schlegel, 1844): the first chromosome-level draft genome in the family Oplegnathidae. PMID:30715332
A High-quality Draft Genome Assembly of Sinella curviseta: A Soil Model Organism (Collembola). PMID:30668671
Uncoupling of transcriptomic and cytological differentiation in mouse spermatocytes with impaired meiosis. PMID:30649999
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons. PMID:30649277
Enhancement of the gut barrier integrity by a microbial metabolite through the Nrf2 pathway. PMID:30626868
A tumor-specific endogenous repetitive element is induced by herpesviruses. PMID:30626867
Cluster expansion of apolipoprotein D (ApoD) genes in teleost fishes. PMID:30621595
Genome-wide maps of distal gene regulatory enhancers active in the human placenta. PMID:30589856
Borders of Cis-Regulatory DNA Sequences Preferentially Harbor the Divergent Transcription Factor Binding Motifs in the Human Genome. PMID:30524473
WebNetCoffee: a web-based application to identify functionally conserved proteins from Multiple PPI networks. PMID:30419809
The evolution of UDP-glycosyl/glucuronosyltransferase 1E (UGT1E) genes in bird lineages is linked to feeding habits but UGT2 genes is not. PMID:30379829
Impact of Variable RNA-Sequencing Depth on Gene Expression Signatures and Target Compound Robustness: Case Study Examining Brain Tumor (Glioma) Disease Progression. PMID:30324181
An intronic genetic variation of MGMT affects enhancer activity and is associated with glioma susceptibility. PMID:30310321
Prediction of gene regulatory enhancers across species reveals evolutionarily conserved sequence properties. PMID:30286077
A systems-approach reveals human nestin is an endothelial-enriched, angiogenesis-independent intermediate filament protein. PMID:30279450
Chromosomal-level assembly of yellow catfish genome using third-generation DNA sequencing and Hi-C analysis. PMID:30256939
Cdk1 gates cell cycle-dependent tRNA synthesis by regulating RNA polymerase III activity. PMID:30247619
Transgenic zebrafish model for quantification and visualization of tissue toxicity caused by alloying elements in newly developed biodegradable metal. PMID:30218086
A draft genome assembly of the Chinese sillago (Sillago sinica), the first reference genome for Sillaginidae fishes. PMID:30202912
Leptin Stimulates Cellular Glycolysis Through a STAT3 Dependent Mechanism in Tilapia. PMID:30186233
Exosomal lncRNAs as new players in cell-to-cell communication. PMID:30148073
coTRaCTE predicts co-occurring transcription factors within cell-type specific enhancers. PMID:30142147
Limited Evidence for Parallel Molecular Adaptations Associated with the Subterranean Niche in Mammals: A Comparative Study of Three Superorders. PMID:30137400
PdumBase: a transcriptome database and research tool for Platynereis dumerilii and early development of other metazoans. PMID:30115014
Biased Inference of Selection Due to GC-Biased Gene Conversion and the Rate of Protein Evolution in Flycatchers When Accounting for It. PMID:30085180
Defining Lineage Potential and Fate Behavior of Precursors during Pancreas Development. PMID:30057275
Contemporary ancestor? Adaptive divergence from standing genetic variation in Pacific marine threespine stickleback. PMID:30021523
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization. PMID:29997393
Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses. PMID:29942513
Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome. PMID:29921581
Long noncoding RNA repertoire and targeting by nuclear exosome, cytoplasmic exonuclease, and RNAi in fission yeast. PMID:29914874
RegenDbase: a comparative database of noncoding RNA regulation of tissue regeneration circuits across multiple taxa. PMID:29872545
Transcriptomic response of breast cancer cells to anacardic acid. PMID:29795261
Poor feed efficiency in sheep is associated with several structural abnormalities in the community metabolic network of their ruminal microbes. PMID:29788417
Functional signaling and gene regulatory networks between the oocyte and the surrounding cumulus cells. PMID:29747587
Genome-wide evidence for divergent selection between populations of a major agricultural pathogen. PMID:29729657
Rare Splice Variants in Long Non-Coding RNAs. PMID:29657294
Cryptic glucocorticoid receptor-binding sites pervade genomic NF-κB response elements. PMID:29626214
HoxA Genes and the Fin-to-Limb Transition in Vertebrates. PMID:29615578
The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion. PMID:29581185
Multispecies reconstructions uncover widespread conservation, and lineage-specific elaborations in eukaryotic mRNA metabolism. PMID:29561870
A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human. PMID:29518216
Weak sharing of genetic association signals in three lung cancer subtypes: evidence at the SNP, gene, regulation, and pathway levels. PMID:29486777
In-host microevolution of Aspergillus fumigatus: A phenotypic and genotypic analysis. PMID:29477713
Genomic analysis of morphometric traits in bighorn sheep using the Ovine Infinium® HD SNP BeadChip. PMID:29473002
Early Detection of Preeclampsia Using Circulating Small non-coding RNA. PMID:29467498
Expression of cell cycle regulators and frequency of TP53 mutations in high risk gastrointestinal stromal tumors prior to adjuvant imatinib treatment. PMID:29451912
Clonal polymorphism and high heterozygosity in the celibate genome of the Amazon molly. PMID:29434351
Transcriptome profiles in peripheral white blood cells at the time of artificial insemination discriminate beef heifers with different fertility potential. PMID:29426285
XRCC3 Thr241Met and TYMS variable number tandem repeat polymorphisms are associated with time-to-metastasis in colorectal cancer. PMID:29394274
A practical solution for preserving single cells for RNA sequencing. PMID:29391536
Transcriptome-wide identification of the RNA-binding landscape of the chromatin-associated protein PARP1 reveals functions in RNA biogenesis. PMID:29387452
Integrated ovarian mRNA and miRNA transcriptome profiling characterizes the genetic basis of prolificacy traits in sheep (Ovis aries). PMID:29378514
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. PMID:29358616
The Landscape of Small Non-Coding RNAs in Triple-Negative Breast Cancer. PMID:29320459
Lineage-independent retrotransposition of UTP14 associated with male fertility has occurred multiple times throughout mammalian evolution. PMID:29308242
Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. PMID:29300007
DNA methyltransferase 3A gene polymorphism contributes to daily life stress susceptibility. PMID:29290696
Bidirectional transcription initiation marks accessible chromatin and is not specific to enhancers. PMID:29284524
Slow evolution of sex-biased genes in the reproductive tissue of the dioecious plant Salix viminalis. PMID:29274186
An integrated and comparative approach towards identification, characterization and functional annotation of candidate genes for drought tolerance in sorghum (Sorghum bicolor (L.) Moench). PMID:29273003
Clinical detection of deletion structural variants in whole-genome sequences. PMID:29263817
Evolutionary expansion of DNA hypomethylation in the mammalian germline genome. PMID:29259021
Informatics for cancer immunotherapy. PMID:29253114
Pronounced strain-specific chemosensory receptor gene expression in the mouse vomeronasal organ. PMID:29233099
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. PMID:29186148
Gramene 2018: unifying comparative genomics and pathway resources for plant research. PMID:29165610
Comparative analysis of weighted gene co-expression networks in human and mouse. PMID:29161290
A Novel Pkhd1 Mutation Interacts with the Nonobese Diabetic Genetic Background To Cause Autoimmune Cholangitis. PMID:29158418
Human Accelerated Regions and Other Human-Specific Sequence Variations in the Context of Evolution and Their Relevance for Brain Development. PMID:29149249
Intron retention enhances gene regulatory complexity in vertebrates. PMID:29141666
Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy. PMID:29104756
Genome-wide discovery of long intergenic noncoding RNAs and their epigenetic signatures in the rat. PMID:29093522
Identification of two types of GGAA-microsatellites and their roles in EWS/FLI binding and gene regulation in Ewing sarcoma. PMID:29091716
The long non-coding RNA ROCR contributes to SOX9 expression and chondrogenic differentiation of human mesenchymal stem cells. PMID:29084806
Transcription Factor CTIP1/ BCL11A Regulates Epidermal Differentiation and Lipid Metabolism During Skin Development. PMID:29044125
Genetic variants affecting equivalent protein family positions reflect human diversity. PMID:28986545
Comparative transcriptomics of cyprinid minnows and carp in a common wild setting: a resource for ecological genomics in freshwater communities. PMID:28985264
Distinct Trajectories of Massive Recent Gene Gains and Losses in Populations of a Microbial Eukaryotic Pathogen. PMID:28981698
Design and validation of a 90K SNP genotyping assay for the water buffalo (Bubalus bubalis). PMID:28981529
Distinct distributions of genomic features of the 5' and 3' partners of coding somatic cancer gene fusions: arising mechanisms and functional implications. PMID:28977995
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. PMID:28977528
Mutation-profile-based methods for understanding selection forces in cancer somatic mutations: a comparative analysis. PMID:28938601
Association between a Single Donor TARC/CCL17 Promotor Polymorphism and Obstructive Chronic Lung Allograft Dysfunction after Lung Transplantation. PMID:28932229
Challenges and advances for transcriptome assembly in non-model species. PMID:28931057
Male Mutation Bias Is the Main Force Shaping Chromosomal Substitution Rates in Monotreme Mammals. PMID:28922870
The impact of the protein interactome on the syntenic structure of mammalian genomes. PMID:28910296
The eBioKit, a stand-alone educational platform for bioinformatics. PMID:28910280
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. PMID:28905882
MYC-dependent recruitment of RUNX1 and GATA2 on the SET oncogene promoter enhances PP2A inactivation in acute myeloid leukemia. PMID:28903318
Perilipin-2 modulates dietary fat-induced microbial global gene expression profiles in the mouse intestine. PMID:28877764
Transposable elements are the primary source of novelty in primate gene regulation. PMID:28855262
New Genes and Functional Innovation in Mammals. PMID:28854603
De novo assembly and characterization of breast cancer transcriptomes identifies large numbers of novel fusion-gene transcripts of potential functional significance. PMID:28851357
A map of human circular RNAs in clinically relevant tissues. PMID:28842720
Freeze-thaw decellularization of the trabecular meshwork in an ex vivo eye perfusion model. PMID:28828244
Annotating long intergenic non-coding RNAs under artificial selection during chicken domestication. PMID:28810830
Association Between NOS1 Gene Polymorphisms and Schizophrenia in Asian and Caucasian Populations: A Meta-Analysis. PMID:28795310
RNA sequencing reveals a complete but an unconventional type of dosage compensation in the domestic silkworm Bombyx mori. PMID:28791152
Reduced Cerebral White Matter Integrity Assessed by DTI in Cognitively Normal H63D-HFE Polymorphism Carriers. PMID:28771940
The SAGA complex, together with transcription factors and the endocytic protein Rvs167p, coordinates the reprofiling of gene expression in response to changes in sterol composition in Saccharomyces cerevisiae. PMID:28768829
Design and implementation of a custom next generation sequencing panel for selected vitamin D associated genes. PMID:28754147
RNA substrate length as an indicator of exosome interactions in vivo. PMID:28748221
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. PMID:28735859
Uncovering missing pieces: duplication and deletion history of arrestins in deuterostomes. PMID:28683816
Analysis of transcription factors among differentially expressed genes induced by drought stress in Populus davidiana. PMID:28667649
An ancestral haplotype of the human PERIOD2 gene associates with reduced sensitivity to light-induced melatonin suppression. PMID:28650999
Isl1 Controls Patterning and Mineralization of Enamel in the Continuously Renewing Mouse Incisor. PMID:28650075
Young Genes are Highly Disordered as Predicted by the Preadaptation Hypothesis of De Novo Gene Birth. PMID:28642936
A Computational Methodology to Overcome the Challenges Associated With the Search for Specific Enzyme Targets to Develop Drugs Against Leishmania major. PMID:28638238
Drug repurposing for aging research using model organisms. PMID:28620943
Computational analysis of multimorbidity between asthma, eczema and rhinitis. PMID:28598986
Diet shifts provoke complex and variable changes in the metabolic networks of the ruminal microbiome. PMID:28595639
Reconciliation feasibility in the presence of gene duplication, loss, and coalescence with multiple individuals per species. PMID:28583091
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. PMID:28552196
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. PMID:28548082
Genetic variation and genetic structure of five Chinese indigenous pig populations in Jiangsu Province revealed by sequencing data. PMID:28543043
The Evolutionary Landscape of Dbl-Like RhoGEF Families: Adapting Eukaryotic Cells to Environmental Signals. PMID:28541439
Bioinformatic analysis of bacteria and host cell dual RNA-sequencing experiments. PMID:28535295
Zebrafish models for functional and toxicological screening of nanoscale drug delivery systems: promoting preclinical applications. PMID:28515222
Hypoxia-driven splicing into noncoding isoforms regulates the DNA damage response. PMID:28480052
CDC42-related genes are upregulated in helper T cells from obese asthmatic children. PMID:28479334
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta. PMID:28475764
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. PMID:28469144
Variable Susceptibility to Cigarette Smoke-Induced Emphysema in 34 Inbred Strains of Mice Implicates Abi3bp in Emphysema Susceptibility. PMID:28441029
Spontaneous Chitin Accumulation in Airways and Age-Related Fibrotic Lung Disease. PMID:28431248
Clusterization in head and neck squamous carcinomas based on lncRNA expression: molecular and clinical correlates. PMID:28405244
Widespread of horizontal gene transfer in the human genome. PMID:28376762
Active module identification in intracellular networks using a memetic algorithm with a new binary decoding scheme. PMID:28361692
FUS affects circular RNA expression in murine embryonic stem cell-derived motor neurons. PMID:28358055
Transcriptome-wide analysis of alternative routes for RNA substrates into the exosome complex. PMID:28355211
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. PMID:28347358
Variants in the host genome may inhibit tumour growth in devil facial tumours: evidence from genome-wide association. PMID:28341828
Different expression patterns of sperm motility-related genes in testis of diploid and tetraploid cyprinid fish†. PMID:28340181
Comparative genomics reveals contraction in olfactory receptor genes in bats. PMID:28325942
Sex differences in the molecular signature of the developing mouse hippocampus. PMID:28302071
An SMC-like protein binds and regulates Caenorhabditis elegans condensins. PMID:28301465
Shared regulatory sites are abundant in the human genome and shed light on genome evolution and disease pleiotropy. PMID:28282383
Population genetic analysis of the DARC locus (Duffy) reveals adaptation from standing variation associated with malaria resistance in humans. PMID:28282382
Evolution of Brain Active Gene Promoters in Human Lineage Towards the Increased Plasticity of Gene Regulation. PMID:28233272
ATF2, a paradigm of the multifaceted regulation of transcription factors in biology and disease. PMID:28212892
Exo-miRExplorer: A Comprehensive Resource for Exploring and Comparatively Analyzing Exogenous MicroRNAs. PMID:28203233
The origin of chow chows in the light of the East Asian breeds. PMID:28201986
Identification of multiple genomic DNA sequences which form i-motif structures at neutral pH. PMID:28180276
Phylointeractomics reconstructs functional evolution of protein binding. PMID:28176777
Identifying the missing proteins in human proteome by biological language model. PMID:28155671
Fast and accurate mutation detection in whole genome sequences of multiple isogenic samples with IsoMut. PMID:28143617
Convergent recombination suppression suggests role of sexual selection in guppy sex chromosome formation. PMID:28139647
Early onset of inflammation during ontogeny of bipolar disorder: the NLRP2 inflammasome gene distinctly differentiates between patients and healthy controls in the transition between iPS cell and neural stem cell stages. PMID:28117838
RIsearch2: suffix array-based large-scale prediction of RNA-RNA interactions and siRNA off-targets. PMID:28108657
An improved genome assembly uncovers prolific tandem repeats in Atlantic cod. PMID:28100185
Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data. PMID:28095480
Oncogenes without a Neighboring Tumor-Suppressor Gene Are More Prone to Amplification. PMID:28087780
MicroRNAs and tRNA-derived fragments predict the transformation of myelodysplastic syndromes to acute myeloid leukemia. PMID:28084850
RAIN: RNA-protein Association and Interaction Networks. PMID:28077569
The Anti-Warburg Effect Elicited by the cAMP-PGC1α Pathway Drives Differentiation of Glioblastoma Cells into Astrocytes. PMID:28076790
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. PMID:28073927
Visualizing the secondary and tertiary architectural domains of lncRNA RepA. PMID:28068310
Initiation of Quality Control during Poly(A) Translation Requires Site-Specific Ribosome Ubiquitination. PMID:28065601
Comprehensive evaluation of extracellular small RNA isolation methods from serum in high throughput sequencing. PMID:28061744
An Isochore Framework Underlies Chromatin Architecture. PMID:28060840
Genome-Wide DNA Methylation Patterns Analysis of Noncoding RNAs in Temporal Lobe Epilepsy Patients. PMID:28058582
Optimized logic rules reveal interferon-γ-induced modes regulated by histone deacetylases and protein tyrosine phosphatases. PMID:28054346
POSTAR: a platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins. PMID:28053162
Induction of the MCP chemokine cluster cascade in the periphery by cancer cell-derived Ccl3. PMID:28041977
Global Analysis of Protein Expression of Inner Ear Hair Cells. PMID:28039372
Transcriptomic comparison of invasive bigheaded carps (Hypophthalmichthys nobilis and Hypophthalmichthys molitrix) and their hybrids. PMID:28031797
Unique Transcriptional Programs Identify Subtypes of AKI. PMID:28028135
Distinctive Patterns of Transcription and RNA Processing for Human lincRNAs. PMID:28017589
RNA sequencing analysis of the developing chicken retina. PMID:27996968
Increased burden of deleterious variants in essential genes in autism spectrum disorder. PMID:27956632
The Lair: a resource for exploratory analysis of published RNA-Seq data. PMID:27905880
Ensembl 2017. PMID:27899575
Extensive Association of Common Disease Variants with Regulatory Sequence. PMID:27875544
Identification of urinary exosomal noncoding RNAs as novel biomarkers in chronic kidney disease. PMID:27872161
The BLUEPRINT Data Analysis Portal. PMID:27863955
Partial reconstitution of the RNAi response in human cells using Drosophila gene products. PMID:27837013
Kinetics of recruitment and allosteric activation of ARHGEF25 isoforms by the heterotrimeric G-protein Gαq. PMID:27833100
WORMHOLE: Novel Least Diverged Ortholog Prediction through Machine Learning. PMID:27812085
Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes. PMID:27799341
Loss of Nat4 and its associated histone H4 N-terminal acetylation mediates calorie restriction-induced longevity. PMID:27799288
RNA-Seq Transcriptomic Responses of Full-Thickness Dermal Excision Wounds to Pseudomonas aeruginosa Acute and Biofilm Infection. PMID:27792773
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. PMID:27788187
A computational interactome and functional annotation for the human proteome. PMID:27770567
Bcr-abl regulates Stat5 through Shp2, the interferon consensus sequence binding protein (Icsbp/Irf8), growth arrest specific 2 (Gas2) and calpain. PMID:27769062
A tissue checkpoint regulates type 2 immunity. PMID:27749840
Both Male-Biased and Female-Biased Genes Evolve Faster in Fish Genomes. PMID:27742722
Positive selection of the TRIM family regulatory region in primate genomes. PMID:27733547
Expression of CALR mutants causes mpl-dependent thrombocytosis in zebrafish. PMID:27716741
De novo assembly and phasing of a Korean human genome. PMID:27706134
Feralisation targets different genomic loci to domestication in the chicken. PMID:27686863
Genome-wide associations for birth weight and correlations with adult disease. PMID:27680694
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. PMID:27666373
SpermBase: A Database for Sperm-Borne RNA Contents. PMID:27628216
Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings. PMID:27617112
Full-length nucleotide sequence of ERMAP alleles encoding Scianna (SC) antigens. PMID:27612015
Microvesicles from brain-extract-treated mesenchymal stem cells improve neurological functions in a rat model of ischemic stroke. PMID:27609711
Breast cancer risk prediction using a clinical risk model and polygenic risk score. PMID:27565998
Mouse models of Down syndrome: gene content and consequences. PMID:27538963
Phenotypically anchored transcriptome profiling of developmental exposure to the antimicrobial agent, triclosan, reveals hepatotoxicity in embryonic zebrafish. PMID:27538710
Inferring Crohn's disease association from exome sequences by integrating biological knowledge. PMID:27535358
Cross-species Conservation of context-specific networks. PMID:27531214
The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. PMID:27528123
Regulatory complexity revealed by integrated cytological and RNA-seq analyses of meiotic substages in mouse spermatocytes. PMID:27519264
Efficient Gene Tree Correction Guided by Genome Evolution. PMID:27513924
Genomic and expression analysis of transition proteins in Drosophila. PMID:27512614
Identification of extracellular miRNA in archived serum samples by next-generation sequencing from RNA extracted using multiple methods. PMID:27510798
A transcriptional blueprint for a spiral-cleaving embryo. PMID:27496340
Spatiotemporal dynamics of OCT4 protein localization during preimplantation development in mice. PMID:27495230
Computational Identification of Novel Genes: Current and Future Perspectives. PMID:27493475
B Cell Receptor Activation Predominantly Regulates AKT-mTORC1/2 Substrates Functionally Related to RNA Processing. PMID:27487157
PiggyBac Transposon-Mediated Mutagenesis in Rats Reveals a Crucial Role of Bbx in Growth and Male Fertility. PMID:27465138
Three Distinct Glutamate Decarboxylase Genes in Vertebrates. PMID:27461130
Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish. PMID:27458342
Aldehyde dehydrogenase 2 is associated with cognitive functions in patients with Parkinson's disease. PMID:27453488
Nitric Oxide Mediated Transcriptome Profiling Reveals Activation of Multiple Regulatory Pathways in Arabidopsis thaliana. PMID:27446194
Cortisol-treated zebrafish embryos develop into pro-inflammatory adults with aberrant immune gene regulation. PMID:27444789
A gene trap transposon eliminates haematopoietic expression of zebrafish Gfi1aa, but does not interfere with haematopoiesis. PMID:27432513
Ancestral vinclozolin exposure alters the epigenetic transgenerational inheritance of sperm small noncoding RNAs. PMID:27390623
A single-cell resolution map of mouse hematopoietic stem and progenitor cell differentiation. PMID:27365425
A Conserved MicroRNA Regulatory Circuit Is Differentially Controlled during Limb/Appendage Regeneration. PMID:27355827
ZIKV - CDB: A Collaborative Database to Guide Research Linking SncRNAs and ZIKA Virus Disease Symptoms. PMID:27332714
A novel approach to detect resistance mechanisms reveals FGR as a factor mediating HDAC inhibitor SAHA resistance in B-cell lymphoma. PMID:27324824
Studying RNA Homology and Conservation with Infernal: From Single Sequences to RNA Families. PMID:27322404
EventPointer: an effective identification of alternative splicing events using junction arrays. PMID:27315794
Long noncoding RNA variations in cardiometabolic diseases. PMID:27305986
Mechanisms of transcription factor evolution in Metazoa. PMID:27288445
Construction of an integrative regulatory element and variation map of the murine Tst locus. PMID:27287690
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. PMID:27279728
A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. PMID:27259051
Improving GENCODE reference gene annotation using a high-stringency proteogenomics workflow. PMID:27250503
Hyperlipidemia-associated gene variations and expression patterns revealed by whole-genome and transcriptome sequencing of rabbit models. PMID:27245873
Engineered Swine Models of Cancer. PMID:27242889
Lineage-specific genomics: Frequent birth and death in the human genome: The human genome contains many lineage-specific elements created by both sequence and functional turnover. PMID:27231054
Quantification of Focal Outflow Enhancement Using Differential Canalograms. PMID:27227352
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. PMID:27216912
Global analysis of transcriptionally engaged yeast RNA polymerase III reveals extended tRNA transcripts. PMID:27206856
Bone-associated gene evolution and the origin of flight in birds. PMID:27193938
Improving microRNA target prediction with gene expression profiles. PMID:27189211
Patterns of Genome-Wide Variation in Glossina fuscipes fuscipes Tsetse Flies from Uganda. PMID:27172181
Codon-Driven Translational Efficiency Is Stable across Diverse Mammalian Cell States. PMID:27166679
Morphometric Analysis of Recognized Genes for Autism Spectrum Disorders and Obesity in Relationship to the Distribution of Protein-Coding Genes on Human Chromosomes. PMID:27164088
Dissecting the expression relationships between RNA-binding proteins and their cognate targets in eukaryotic post-transcriptional regulatory networks. PMID:27161996
Estimation of ribosome profiling performance and reproducibility at various levels of resolution. PMID:27160013
High-performance web services for querying gene and variant annotation. PMID:27154141
Chromatoid Body Protein TDRD6 Supports Long 3' UTR Triggered Nonsense Mediated mRNA Decay. PMID:27149095
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes. PMID:27142762
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. PMID:27142102
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. PMID:27120335
CoReCG: a comprehensive database of genes associated with colon-rectal cancer. PMID:27114494
Abnormal Osmotic Avoidance Behavior in C. elegans Is Associated with Increased Hypertonic Stress Resistance and Improved Proteostasis. PMID:27111894
Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners. PMID:27100087
Population genomics of local adaptation versus speciation in coral reef fishes (Hypoplectrus spp, Serranidae). PMID:27099711
Differences in Whole Blood Gene Expression Associated with Infection Time-Course and Extent of Fetal Mortality in a Reproductive Model of Type 2 Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) Infection. PMID:27093427
Patterns of database citation in articles and patents indicate long-term scientific and industry value of biological data resources. PMID:27092246
Identification of a Bitter-Taste Receptor Gene Repertoire in Different Lagomorphs Species. PMID:27092177
Identification of Differentially Expressed Genes Associated with Litter Size in Berkshire Pig Placenta. PMID:27078025
Data set for transcriptional response to depletion of the Shoc2 scaffolding protein. PMID:27077079
ATtRACT-a database of RNA-binding proteins and associated motifs. PMID:27055826
The Functional Human C-Terminome. PMID:27050421
The Evolution of COP9 Signalosome in Unicellular and Multicellular Organisms. PMID:27044515
A flexible tool to plot a genomic map for single nucleotide polymorphisms. PMID:27042203
Triallelic Population Genomics for Inferring Correlated Fitness Effects of Same Site Nonsynonymous Mutations. PMID:27029732
JAM: A Scalable Bayesian Framework for Joint Analysis of Marginal SNP Effects. PMID:27027514
Lysosomal Disorders Drive Susceptibility to Tuberculosis by Compromising Macrophage Migration. PMID:27015311
VGSC: A Web-Based Vector Graph Toolkit of Genome Synteny and Collinearity. PMID:27006949
CTCF-mediated chromatin loops enclose inducible gene regulatory domains. PMID:27004515
Vitamin D Deficiency Is Associated With Increased Risk of Non-alcoholic Steatohepatitis in Adults With Non-alcoholic Fatty Liver Disease: Possible Role for MAPK and NF-κB? PMID:27002799
A Porcine Anterior Segment Perfusion and Transduction Model With Direct Visualization of the Trabecular Meshwork. PMID:27002293
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. PMID:27001614
Whole transcriptome profiling of patient-derived xenograft models as a tool to identify both tumor and stromal specific biomarkers. PMID:26980748
Whole-Genome Identification, Phylogeny, and Evolution of the Cytochrome P450 Family 2 (CYP2) Subfamilies in Birds. PMID:26979796
Spatiotemporal variation of mammalian protein complex stoichiometries. PMID:26975353
Genome-Wide Association Study to Identify Genes Related to Renal Mercury Concentrations in Mice. PMID:26942574
In silico Analysis Revealed High-risk Single Nucleotide Polymorphisms in Human Pentraxin-3 Gene and their Impact on Innate Immune Response against Microbial Pathogens. PMID:26941719
Genome-Wide Identification and Characterization of Long Non-Coding RNAs from Mulberry (Morus notabilis) RNA-seq Data. PMID:26938562
Divergence in gene expression within and between two closely related flycatcher species. PMID:26928872
Does Japanese medaka (Oryzias latipes) exhibit a gill Na(+)/K(+)-ATPase isoform switch during salinity change? PMID:26920794
Integrative Transcriptome, Genome and Quantitative Trait Loci Resources Identify Single Nucleotide Polymorphisms in Candidate Genes for Growth Traits in Turbot. PMID:26901189
Complementary Post Transcriptional Regulatory Information is Detected by PUNCH-P and Ribosome Profiling. PMID:26898226
Using intron position conservation for homology-based gene prediction. PMID:26893356
Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1. PMID:26877820
ChemProt-3.0: a global chemical biology diseases mapping. PMID:26876982
A micro-RNA expression signature for human NAFLD progression. PMID:26874844
Colib'read on galaxy: a tools suite dedicated to biological information extraction from raw NGS reads. PMID:26870323
Novel small RNA (sRNA) landscape of the starvation-stress response transcriptome of Salmonella enterica serovar typhimurium. PMID:26853797
Comparative transcriptomic profiling of hydrogen peroxide signaling networks in zebrafish and human keratinocytes: Implications toward conservation, migration and wound healing. PMID:26846883
Evolutionary analysis across mammals reveals distinct classes of long non-coding RNAs. PMID:26838501
Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands. PMID:26838129
CIDANE: comprehensive isoform discovery and abundance estimation. PMID:26831908
High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry. PMID:26808113
Global analysis of human duplicated genes reveals the relative importance of whole-genome duplicates originated in the early vertebrate evolution. PMID:26801093
Metatranscriptomic analysis of diverse microbial communities reveals core metabolic pathways and microbiome-specific functionality. PMID:26757703
The chromosome 3q26 OncCassette: A multigenic driver of human cancer. PMID:26754874
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. PMID:26752265
QuickRNASeq lifts large-scale RNA-seq data analyses to the next level of automation and interactive visualization. PMID:26747388
Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts. PMID:26746786
Fast and accurate branch lengths estimation for phylogenomic trees. PMID:26744021
The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants. PMID:26733288
Epidermal growth factor, latrophilin, and seven transmembrane domain-containing protein 1 marker, a novel angiogenesis marker. PMID:26719704
The drug target genes show higher evolutionary conservation than non-target genes. PMID:26716901
Distal substitutions drive divergent DNA specificity among paralogous transcription factors through subdivision of conformational space. PMID:26715749
Transcriptomes of post-mitotic neurons identify the usage of alternative pathways during adult and embryonic neuronal differentiation. PMID:26699284
Esophageal Squamous Cell Carcinoma Cells Modulate Chemokine Expression and Hyaluronan Synthesis in Fibroblasts. PMID:26699196
The conserved HDAC Rpd3 drives transcriptional quiescence in S. cerevisiae. PMID:26697386
Genetic variants associated with colorectal brain metastases susceptibility and survival. PMID:26689941
Phylogenomic analyses reveal a molecular signature linked to subterranean adaptation in rodents. PMID:26683336
Fundamentals of protein interaction network mapping. PMID:26681426
Bioinformatical parsing of folding-on-binding proteins reveals their compositional and evolutionary sequence design. PMID:26678310
Taking Bioinformatics to Systems Medicine. PMID:26677177
RNA-Seq workflow: gene-level exploratory analysis and differential expression. PMID:26674615
Proteogenomics from a bioinformatics angle: A growing field. PMID:26670565
Reduced white matter MRI transverse relaxation rate in cognitively normal H63D-HFE human carriers and H67D-HFE mice. PMID:26660104
Cross-species conservation of complementary amino acid-ribonucleobase interactions and their potential for ribosome-free encoding. PMID:26656258
Measuring the immune system of the three-spined stickleback - investigating natural variation by quantifying immune expression in the laboratory and the wild. PMID:26646722
Identifying Novel Transcriptional Regulators with Circadian Expression. PMID:26644408
Complete re-sequencing of a 2Mb topological domain encompassing the FTO/IRXB genes identifies a novel obesity-associated region upstream of IRX5. PMID:26642925
Depletion of Olig2 in oligodendrocyte progenitor cells infected by Theiler's murine encephalomyelitis virus. PMID:26631080
Circadian and light-driven regulation of rod dark adaptation. PMID:26626567
Production of functional small interfering RNAs by an amino-terminal deletion mutant of human Dicer. PMID:26621737
N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium. PMID:26618645
Large-scale transcriptome sequencing reveals novel expression patterns for key sex-related genes in a sex-changing fish. PMID:26613014
Large-scale probabilistic 3D organization of human chromosome territories. PMID:26604142
An Examination of Dynamic Gene Expression Changes in the Mouse Brain During Pregnancy and the Postpartum Period. PMID:26596646
Quantitative analysis of chromatin interaction changes upon a 4.3 Mb deletion at mouse 4E2. PMID:26589460
DIANA-miRGen v3.0: accurate characterization of microRNA promoters and their regulators. PMID:26586797
Resequencing of the common marmoset genome improves genome assemblies and gene-coding sequence analysis. PMID:26586576
Gene3D: expanding the utility of domain assignments. PMID:26578585
Discover hidden splicing variations by mapping personal transcriptomes to personal genomes. PMID:26578562
The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration. PMID:26575287
Effective Leveraging of Targeted Search Spaces for Improving Peptide Identification in Tandem Mass Spectrometry Based Proteomics. PMID:26569054
A Phase I Trial of BKM120 (Buparlisib) in Combination with Fulvestrant in Postmenopausal Women with Estrogen Receptor-Positive Metastatic Breast Cancer. PMID:26563128
Integrated Transcriptomic-Proteomic Analysis Using a Proteogenomic Workflow Refines Rat Genome Annotation. PMID:26560066
Union Exon Based Approach for RNA-Seq Gene Quantification: To Be or Not to Be? PMID:26559532
Full-length single-cell RNA-seq applied to a viral human cancer: applications to HPV expression and splicing analysis in HeLa S3 cells. PMID:26550473
OperomeDB: A Database of Condition-Specific Transcription Units in Prokaryotic Genomes. PMID:26543854
The Distant Siblings-A Phylogenomic Roadmap Illuminates the Origins of Extant Diversity in Fungal Aromatic Polyketide Biosynthesis. PMID:26537223
CEGA--a catalog of conserved elements from genomic alignments. PMID:26527719
A Scale-Corrected Comparison of Linkage Disequilibrium Levels between Genic and Non-Genic Regions. PMID:26517830
Expression of young HERV-H loci in the course of colorectal carcinoma and correlation with molecular subtypes. PMID:26517682
DEPDC5 variants increase fibrosis progression in Europeans with chronic hepatitis C virus infection. PMID:26517016
SynLethDB: synthetic lethality database toward discovery of selective and sensitive anticancer drug targets. PMID:26516187
Mouse polyQ database: a new online resource for research using mouse models of neurodegenerative diseases. PMID:26515641
Genes with stable DNA methylation levels show higher evolutionary conservation than genes with fluctuant DNA methylation levels. PMID:26515589
Genome-wide identification and characterization of tissue-specific RNA editing events in D. melanogaster and their potential role in regulating alternative splicing. PMID:26512413
Genetics of RA susceptibility, what comes next? PMID:26509058
Identification of dopamine receptors across the extant avian family tree and analysis with other clades uncovers a polyploid expansion among vertebrates. PMID:26500483
Comparison of inter- and intraspecies variation in humans and fruit flies. PMID:26484147
Analysis of 5' gene regions reveals extraordinary conservation of novel non-coding sequences in a wide range of animals. PMID:26482678
Molecular Evolution of the Neural Crest Regulatory Network in Ray-Finned Fish. PMID:26475317
Inter-population Differences in Retrogene Loss and Expression in Humans. PMID:26474060
Concordance between RNA-sequencing data and DNA microarray data in transcriptome analysis of proliferative and quiescent fibroblasts. PMID:26473061
RFX transcription factors are essential for hearing in mice. PMID:26469318
Development of a SNP-based assay for measuring genetic diversity in the Tasmanian devil insurance population. PMID:26467759
Genes located in a chromosomal inversion are correlated with territorial song in white-throated sparrows. PMID:26463687
Functional Analyses of Transcription Factor Binding Sites that Differ between Present-Day and Archaic Humans. PMID:26454764
Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales. PMID:26454016
WaspAtlas: a Nasonia vitripennis gene database and analysis platform. PMID:26452372
The Hox cluster microRNA miR-615: a case study of intronic microRNA evolution. PMID:26451238
Recombination Rate Variation Modulates Gene Sequence Evolution Mainly via GC-Biased Gene Conversion, Not Hill-Robertson Interference, in an Avian System. PMID:26446902
Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence. PMID:26440539
Gene loss, adaptive evolution and the co-evolution of plumage coloration genes with opsins in birds. PMID:26438339
Siaα2-3Galβ1- Receptor Genetic Variants Are Associated with Influenza A(H1N1)pdm09 Severity. PMID:26436774
ncRDeathDB: A comprehensive bioinformatics resource for deciphering network organization of the ncRNA-mediated cell death system. PMID:26431463
The decrease in histone methyltransferase EZH2 in response to fluid shear stress alters endothelial gene expression and promotes quiescence. PMID:26416763
New genomic and fossil data illuminate the origin of enamel. PMID:26416752
Comprehensive comparative homeobox gene annotation in human and mouse. PMID:26412852
Deciphering targeting rules of splicing modulator compounds: case of TG003. PMID:26400733
Transfer RNA detection by small RNA deep sequencing and disease association with myelodysplastic syndromes. PMID:26400237
Beyond the one-locus-one-miRNA paradigm: microRNA isoforms enable deeper insights into breast cancer heterogeneity. PMID:26400174
Long Noncoding RNA Expression during Human B-Cell Development. PMID:26394393
Kinome-wide decoding of network-attacking mutations rewiring cancer signaling. PMID:26388441
The genome of the vervet (Chlorocebus aethiops sabaeus). PMID:26377836
Genome-wide association study for female fertility in Nordic Red cattle. PMID:26369327
Optimization of next-generation sequencing transcriptome annotation for species lacking sequenced genomes. PMID:26358618
Replication and Meta-Analysis of Common Gene Mutations in TTF1 and TTF2 with Papillary Thyroid Cancer. PMID:26356687
RNA sequencing provides exquisite insight into the manipulation of the alveolar macrophage by tubercle bacilli. PMID:26346536
Mixed effects of suberoylanilide hydroxamic acid (SAHA) on the host transcriptome and proteome and their implications for HIV reactivation from latency. PMID:26343910
Transcriptomic responses to prion disease in rats. PMID:26341492
Comparison of stranded and non-stranded RNA-seq transcriptome profiling and investigation of gene overlap. PMID:26334759
Family Wide Molecular Adaptations to Underground Life in African Mole-Rats Revealed by Phylogenomic Analysis. PMID:26318402
Breast Cancer Anti-Estrogen Resistance 4 (BCAR4) Drives Proliferation of IPH-926 lobular Carcinoma Cells. PMID:26317614
Principles of the prolactin/vasoinhibin axis. PMID:26310939
The relationship between iron dyshomeostasis and amyloidogenesis in Alzheimer's disease: Two sides of the same coin. PMID:26303889
Integrated inference and evaluation of host-fungi interaction networks. PMID:26300851
Prediction of Causal Candidate Genes in Coronary Artery Disease Loci. PMID:26293461
Origin and Diversification of Meprin Proteases. PMID:26288188
Optimizing RNA structures by sequence extensions using RNAcop. PMID:26283181
Gene Coexpression and Evolutionary Conservation Analysis of the Human Preimplantation Embryos. PMID:26273607
Signatures of natural selection between life cycle stages separated by metamorphosis in European eel. PMID:26268725
Predicting effective microRNA target sites in mammalian mRNAs. PMID:26267216
Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortium. PMID:26264041
GC skew is a conserved property of unmethylated CpG island promoters across vertebrates. PMID:26253743
The genetics of human infertility by functional interrogation of SNPs in mice. PMID:26240362
Pathogenicity of Bovine Neonatal Pancytopenia-associated vaccine-induced alloantibodies correlates with Major Histocompatibility Complex class I expression. PMID:26235972
Comparison against 186 canid whole-genome sequences reveals survival strategies of an ancient clonally transmissible canine tumor. PMID:26232412
Type 1 Diabetes Prone NOD Mice Have Diminished Cxcr1 mRNA Expression in Polymorphonuclear Neutrophils and CD4+ T Lymphocytes. PMID:26230114
Growth dynamics of gut microbiota in health and disease inferred from single metagenomic samples. PMID:26229116
The frequent evolutionary birth and death of functional promoters in mouse and human. PMID:26228054
A Genome-Wide Landscape of Retrocopies in Primate Genomes. PMID:26224704
CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice. PMID:26224312
Analysis artefacts of the INS-IGF2 fusion transcript. PMID:26220792
The Regulation of Steroid Action by Sulfation and Desulfation. PMID:26213785
Database of RNA binding protein expression and disease dynamics (READ DB). PMID:26210853
Polymorphisms in Genes Involved in EGFR Turnover Are Predictive for Cetuximab Efficacy in Colorectal Cancer. PMID:26206335
The Interferon-Inducible Mouse Apolipoprotein L9 and Prohibitins Cooperate to Restrict Theiler's Virus Replication. PMID:26196674
Structural Bioinformatics Inspection of neXtProt PE5 Proteins in the Human Proteome. PMID:26193931
Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder. PMID:26184070
Leveraging transcript quantification for fast computation of alternative splicing profiles. PMID:26179515
Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci. PMID:26176855
Regulation of human MAPT gene expression. PMID:26170022
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. PMID:26166479
Metrics for the Human Proteome Project 2015: Progress on the Human Proteome and Guidelines for High-Confidence Protein Identification. PMID:26155816
Exploring the utility of cross-laboratory RAD-sequencing datasets for phylogenetic analysis. PMID:26152111
Helicobacter pylori chronic infection and mucosal inflammation switches the human gastric glycosylation pathways. PMID:26144047
Quantitative and functional interrogation of parent-of-origin allelic expression biases in the brain. PMID:26140685
Reptilian Transcriptomes v2.0: An Extensive Resource for Sauropsida Genomics and Transcriptomics. PMID:26133641
Identification of cis-suppression of human disease mutations by comparative genomics. PMID:26123021
A polynomial delay algorithm for the enumeration of bubbles with length constraints in directed graphs. PMID:26120359
Complementing tissue characterization by integrating transcriptome profiling from the Human Protein Atlas and from the FANTOM5 consortium. PMID:26117540
The European Genome-phenome Archive of human data consented for biomedical research. PMID:26111507
Decreased Expression of CoREST1 and CoREST2 Together with LSD1 and HDAC1/2 during Neuronal Differentiation. PMID:26111147
Disease-associated variants in different categories of disease located in distinct regulatory elements. PMID:26110593
BGD: a database of bat genomes. PMID:26110276
Comprehensive identification and analysis of human accelerated regulatory DNA. PMID:26104583
Linked genetic variants on chromosome 10 control ear morphology and body mass among dog breeds. PMID:26100605
The Rise and Fall of TRP-N, an Ancient Family of Mechanogated Ion Channels, in Metazoa. PMID:26100409
Modelling the conditional regulatory activity of methylated and bivalent promoters. PMID:26097508
HCSD: the human cancer secretome database. PMID:26078477
Collembolan Transcriptomes Highlight Molecular Evolution of Hexapods and Provide Clues on the Adaptation to Terrestrial Life. PMID:26075903
Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis. PMID:26070663
Recurrent deletions of IKZF1 in pediatric acute myeloid leukemia. PMID:26069293
Natural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution. PMID:26068475
Stem cells and fluid flow drive cyst formation in an invertebrate excretory organ. PMID:26057828
PCSK5 mutation in a patient with the VACTERL association. PMID:26055999
Extreme multifunctional proteins identified from a human protein interaction network. PMID:26054620
ONION: Functional Approach for Integration of Lipidomics and Transcriptomics Data. PMID:26053255
High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. PMID:26048245
Combined analysis of gene regulatory network and SNV information enhances identification of potential gene markers in mouse knockout studies with small number of samples. PMID:26044212
Trans-species polymorphism at antimicrobial innate immunity cathelicidin genes of Atlantic cod and related species. PMID:26038731
Identification of genomic regions associated with female fertility in Danish Jersey using whole genome sequence data. PMID:26036962
The path of no return--Truncated protein N-termini and current ignorance of their genesis. PMID:26010509
Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform. PMID:25997006
Quantification of GC-biased gene conversion in the human genome. PMID:25995268
A Combined Omics Approach to Generate the Surface Atlas of Human Naive CD4+ T Cells during Early T-Cell Receptor Activation. PMID:25991687
A low-latency, big database system and browser for storage, querying and visualization of 3D genomic data. PMID:25990738
Multidimensional gene search with Genehopper. PMID:25990726
Significant expansion of the REST/NRSF cistrome in human versus mouse embryonic stem cells: potential implications for neural development. PMID:25990720
Harnessing cross-species alignment to discover SNPs and generate a draft genome sequence of a bighorn sheep (Ovis canadensis). PMID:25990117
WGE: a CRISPR database for genome engineering. PMID:25979474
Most partial domains in proteins are alignment and annotation artifacts. PMID:25976240
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. PMID:25973577
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. PMID:25972376
TET2 Mutations Affect Non-CpG Island DNA Methylation at Enhancers and Transcription Factor-Binding Sites in Chronic Myelomonocytic Leukemia. PMID:25972343
Inference of Evolutionary Forces Acting on Human Biological Pathways. PMID:25971280
ADME SARfari: comparative genomics of drug metabolizing systems. PMID:25964657
Variations in genes involved in dormancy associated with outcome in patients with resected colorectal liver metastases. PMID:25957329
Genomic landscape of rat strain and substrain variation. PMID:25943489
Evolution of proteasome regulators in eukaryotes. PMID:25943340
Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PMID:25942438
Initial description of primate-specific cystine-knot Prometheus genes and differential gene expansions of D-dopachrome tautomerase genes. PMID:25941635
De Novo Reconstruction of Adipose Tissue Transcriptomes Reveals Long Non-coding RNA Regulators of Brown Adipocyte Development. PMID:25921091
Inosine modifications in human tRNAs are incorporated at the precursor tRNA level. PMID:25916855
Data-dependent bucketing improves reference-free compression of sequencing reads. PMID:25910696
CCTop: An Intuitive, Flexible and Reliable CRISPR/Cas9 Target Prediction Tool. PMID:25909470
Enrichment of Triticum aestivum gene annotations using ortholog cliques and gene ontologies in other plants. PMID:25887590
CopywriteR: DNA copy number detection from off-target sequence data. PMID:25887352
Transcriptional analysis identifies key genes involved in metabolism, fibrosis/tissue repair and the immune response against Fasciola hepatica in sheep liver. PMID:25885344
Mason: a JavaScript web site widget for visualizing and comparing annotated features in nucleotide or protein sequences. PMID:25884379
Widespread exon skipping triggers degradation by nuclear RNA surveillance in fission yeast. PMID:25883323
The plant Polycomb repressive complex 1 (PRC1) existed in the ancestor of seed plants and has a complex duplication history. PMID:25881027
The central nervous system transcriptome of the weakly electric brown ghost knifefish (Apteronotus leptorhynchus): de novo assembly, annotation, and proteomics validation. PMID:25879418
TAF10 Interacts with the GATA1 Transcription Factor and Controls Mouse Erythropoiesis. PMID:25870109
HOTAIR forms an intricate and modular secondary structure. PMID:25866246
Pan-cancer transcriptome analysis reveals long noncoding RNAs with conserved function. PMID:25864709
GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles. PMID:25861967
miRGate: a curated database of human, mouse and rat miRNA-mRNA targets. PMID:25858286
ALDB: a domestic-animal long noncoding RNA database. PMID:25853886
Mapsnp: an R package to plot a genomic map for single nucleotide polymorphisms. PMID:25853637
RBM7 subunit of the NEXT complex binds U-rich sequences and targets 3'-end extended forms of snRNAs. PMID:25852104
Biochemical functional predictions for protein structures of unknown or uncertain function. PMID:25848497
The Drosophila TIPE family member Sigmar interacts with the Ste20-like kinase Misshapen and modulates JNK signaling, cytoskeletal remodeling and autophagy. PMID:25836674
An ancestral bacterial division system is widespread in eukaryotic mitochondria. PMID:25831547
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. PMID:25827230
Genome-wide linkage and positional association analyses identify associations of novel AFF3 and NTM genes with triglycerides: the GenSalt study. PMID:25819087
Genetic risk factors affecting mitochondrial function are associated with kidney disease in people with Type 1 diabetes. PMID:25819010
Whole-genome sequencing of six Mauritian Cynomolgus macaques (Macaca fascicularis) reveals a genome-wide pattern of polymorphisms under extreme population bottleneck. PMID:25805843
Sumoylation of Rap1 mediates the recruitment of TFIID to promote transcription of ribosomal protein genes. PMID:25800674
Development and characterization of a novel rat model of estrogen-induced mammary cancer. PMID:25800038
Structural imprints in vivo decode RNA regulatory mechanisms. PMID:25799993
De novo origin of VCY2 from autosome to Y-transposed amplicon. PMID:25799347
MicroRNA-499 expression distinctively correlates to target genes sox6 and rod1 profiles to resolve the skeletal muscle phenotype in Nile tilapia. PMID:25793727
A genomic comparison of two termites with different social complexity. PMID:25788900
In-silico analysis of inflammatory bowel disease (IBD) GWAS loci to novel connections. PMID:25786114
Expression of multiple horizontally acquired genes is a hallmark of both vertebrate and invertebrate genomes. PMID:25785303
A genome-wide association study in large white and landrace pig populations for number piglets born alive. PMID:25781935
Why Selection Might Be Stronger When Populations Are Small: Intron Size and Density Predict within and between-Species Usage of Exonic Splice Associated cis-Motifs. PMID:25771198
A comprehensive evaluation of ensembl, RefSeq, and UCSC annotations in the context of RNA-seq read mapping and gene quantification. PMID:25765860
Hardy-Weinberg equilibrium revisited for inferences on genotypes featuring allele and copy-number variations. PMID:25765626
Tissue-specific transcriptome assemblies of the marine medaka Oryzias melastigma and comparative analysis with the freshwater medaka Oryzias latipes. PMID:25765076
Towards further defining the proteome of mouse saliva. PMID:25762866
Recent advances in the Zymoseptoria tritici-wheat interaction: insights from pathogenomics. PMID:25759705
Reconstruction of cyclooxygenase evolution in animals suggests variable, lineage-specific duplications, and homologs with low sequence identity. PMID:25758350
Adaptive Evolution as a Predictor of Species-Specific Innate Immune Response. PMID:25758009
Variations in genes involved in immune response checkpoints and association with outcomes in patients with resected colorectal liver metastases. PMID:25752522
Neighboring Genes Show Correlated Evolution in Gene Expression. PMID:25743543
GWIPS-viz as a tool for exploring ribosome profiling evidence supporting the synthesis of alternative proteoforms. PMID:25736862
The contribution of cohesin-SA1 to gene expression and chromatin architecture in two murine tissues. PMID:25735743
Microprocessor mediates transcriptional termination of long noncoding RNA transcripts hosting microRNAs. PMID:25730776
Avianbase: a community resource for bird genomics. PMID:25723810
Biochemical insight into the prion protein family. PMID:25717473
Defining the gene repertoire and spatiotemporal expression profiles of adhesion G protein-coupled receptors in zebrafish. PMID:25715737
Coincidental loss of DOCK8 function in NLRP10-deficient and C3H/HeJ mice results in defective dendritic cell migration. PMID:25713392
Biological databases for human research. PMID:25712261
mRNA profiling reveals determinants of trastuzumab efficiency in HER2-positive breast cancer. PMID:25710561
StringTie enables improved reconstruction of a transcriptome from RNA-seq reads. PMID:25690850
Genetic variations in angiopoietin and pericyte pathways and clinical outcome in patients with resected colorectal liver metastases. PMID:25690670
The Genome 10K Project: a way forward. PMID:25689317
Review and update on the molecular basis of Leber congenital amaurosis. PMID:25685757
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. PMID:25684150
Functional Proteomic Analysis of Repressive Histone Methyltransferase Complexes Reveals ZNF518B as a G9A Regulator. PMID:25680957
Developing a molecular roadmap of drug-food interactions. PMID:25668218
Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. PMID:25653287
Expression and regulation of long noncoding RNAs in TLR4 signaling in mouse macrophages. PMID:25652569
Methylomic trajectories across human fetal brain development. PMID:25650246
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. PMID:25640679
Deficit of mitonuclear genes on the human X chromosome predates sex chromosome formation. PMID:25637223
Enhancer evolution across 20 mammalian species. PMID:25635462
The human blood DNA methylome displays a highly distinctive profile compared with other somatic tissues. PMID:25634226
Distribution of miRNA genes in the pig genome. PMID:25632794
Evidence for active maintenance of phylotranscriptomic hourglass patterns in animal and plant embryogenesis. PMID:25631928
Functional organization of the genome may shape the species boundary in the house mouse. PMID:25631927
"Off-Spotter": very fast and exhaustive enumeration of genomic lookalikes for designing CRISPR/Cas guide RNAs. PMID:25630343
Identification of divergent WH2 motifs by HMM-HMM alignments. PMID:25616999
Evolutionary constraint and disease associations of post-translational modification sites in human genomes. PMID:25611800
A review of inter- and intraspecific variation in the eutherian placenta. PMID:25602076
Biological interpretation of genome-wide association studies using predicted gene functions. PMID:25597830
BCOR and BCORL1 mutations in pediatric acute myeloid leukemia. PMID:25596268
The neXtProt knowledgebase on human proteins: current status. PMID:25593349
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. PMID:25589632
DNA lesion identity drives choice of damage tolerance pathway in murine cell chromosomes. PMID:25589543
Evolutionary patterns in coiled-coils. PMID:25577198
Single-cell transcriptome analysis reveals dynamic changes in lncRNA expression during reprogramming. PMID:25575081
Human long noncoding RNAs are substantially less folded than messenger RNAs. PMID:25540450
Molecular evolution of Dmrt1 accompanies change of sex-determining mechanisms in reptilia. PMID:25540158
dbPPT: a comprehensive database of protein phosphorylation in plants. PMID:25534750
SWAMP: Sliding Window Alignment Masker for PAML. PMID:25525323
RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts. PMID:25524026
Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates. PMID:25515709
The Role of microRNAs in Bovine Infection and Immunity. PMID:25505900
HGV&TB: a comprehensive online resource on human genes and genetic variants associated with tuberculosis. PMID:25502817
Developmental regulation of human cortex transcription and its clinical relevance at single base resolution. PMID:25501035
Novel single nucleotide polymorphism in CYP2C9 is associated with changes in warfarin clearance and CYP2C9 expression levels in African Americans. PMID:25499099
Predicting expression: the complementary power of histone modification and transcription factor binding data. PMID:25489339
FHOD proteins in actin dynamics--a formin' class of its own. PMID:25483300
Retrotransposons and pseudogenes regulate mRNAs and lncRNAs via the piRNA pathway in the germline. PMID:25480952
Computational approaches to interpreting genomic sequence variation. PMID:25473426
FLAGS, frequently mutated genes in public exomes. PMID:25466818
Analysis of the AHR gene proximal promoter GGGGC-repeat polymorphism in lung, breast, and colon cancer. PMID:25447411
Triticeae resources in Ensembl Plants. PMID:25432969
SNiPA: an interactive, genetic variant-centered annotation browser. PMID:25431330
The UCSC Genome Browser database: 2015 update. PMID:25428374
OrthoDB v8: update of the hierarchical catalog of orthologs and the underlying free software. PMID:25428351
A vertebrate-conserved cis-regulatory module for targeted expression in the main hypothalamic regulatory region for the stress response. PMID:25427861
Computational strategies for a system-level understanding of metabolism. PMID:25427076
DIANA-TarBase v7.0: indexing more than half a million experimentally supported miRNA:mRNA interactions. PMID:25416803
In silico prediction of splice-altering single nucleotide variants in the human genome. PMID:25416802
The SUPERFAMILY 1.75 database in 2014: a doubling of data. PMID:25414345
Novel KRAS gene mutations in sporadic colorectal cancer. PMID:25412182
Comparison of assembly algorithms for improving rate of metatranscriptomic functional annotation. PMID:25411636
The transcriptome of the bowhead whale Balaena mysticetus reveals adaptations of the longest-lived mammal. PMID:25411232
RNA regulons in Hox 5' UTRs confer ribosome specificity to gene regulation. PMID:25409156
I-GSEA4GWAS v2: a web server for functional analysis of SNPs in trait-associated pathways identified from genome-wide association study. PMID:25407412
Beyond protein expression, MOPED goes multi-omics. PMID:25404128
SuRFing the genomics wave: an R package for prioritising SNPs by functionality. PMID:25400697
Interferon lambda: opportunities, risks, and uncertainties in the fight against HCV. PMID:25400636
CMPD: cancer mutant proteome database. PMID:25398898
FlyBase: introduction of the Drosophila melanogaster Release 6 reference genome assembly and large-scale migration of genome annotations. PMID:25398896
How evolution of genomes is reflected in exact DNA sequence match statistics. PMID:25398628
M3D: a kernel-based test for spatially correlated changes in methylation profiles. PMID:25398611
Analysis of the Na+/Ca2+ exchanger gene family within the phylum Nematoda. PMID:25397810
Rfam 12.0: updates to the RNA families database. PMID:25392425
MiCroKiTS 4.0: a database of midbody, centrosome, kinetochore, telomere and spindle. PMID:25392421
Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions. PMID:25392414
The coffee genome hub: a resource for coffee genomes. PMID:25392413
Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR). PMID:25392405
The accessory helix of complexin functions by stabilizing central helix secondary structure. PMID:25383924
Genomicus update 2015: KaryoView and MatrixView provide a genome-wide perspective to multispecies comparative genomics. PMID:25378326
IMGT®, the international ImMunoGeneTics information system® 25 years on. PMID:25378316
Large transcription units unify copy number variants and common fragile sites arising under replication stress. PMID:25373142
ATP-dependent chromatin remodeling shapes the long noncoding RNA landscape. PMID:25367034
Genome-wide analyses and functional classification of proline repeat-rich proteins: potential role of eIF5A in eukaryotic evolution. PMID:25364902
GeneFriends: a human RNA-seq-based gene and transcript co-expression database. PMID:25361971
PomBase 2015: updates to the fission yeast database. PMID:25361970
Genenames.org: the HGNC resources in 2015. PMID:25361968
COSMIC: exploring the world's knowledge of somatic mutations in human cancer. PMID:25355519
Gene: a gene-centered information resource at NCBI. PMID:25355515
The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease. PMID:25355511
RNAcentral: an international database of ncRNA sequences. PMID:25352543
Thyroid transcription factors in development, differentiation and disease. PMID:25350068
The genomic landscape of polymorphic human nuclear mitochondrial insertions. PMID:25348406
Nuclear and mitochondrial tRNA-lookalikes in the human genome. PMID:25339973
ToxDBScan: Large-scale similarity screening of toxicological databases for drug candidates. PMID:25338045
Proteome TopFIND 3.0 with TopFINDer and PathFINDer: database and analysis tools for the association of protein termini to pre- and post-translational events. PMID:25332401
The human DEPhOsphorylation database DEPOD: a 2015 update. PMID:25332398
BCCTBbp: the Breast Cancer Campaign Tissue Bank bioinformatics portal. PMID:25332396
PLAZA 3.0: an access point for plant comparative genomics. PMID:25324309
SNPsnap: a Web-based tool for identification and annotation of matched SNPs. PMID:25316677
Testing whether metazoan tyrosine loss was driven by selection against promiscuous phosphorylation. PMID:25312910
Congenital insensitivity to pain: a case report and review of the literature. PMID:25309764
Gene expression responses of threespine stickleback to salinity: implications for salt-sensitive hypertension. PMID:25309574
VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants. PMID:25306238
SMART: recent updates, new developments and status in 2015. PMID:25300481
Alternative splicing of human NT5E in cirrhosis and hepatocellular carcinoma produces a negative regulator of ecto-5'-nucleotidase (CD73). PMID:25298403
Evolutionary dynamics of coding and non-coding transcriptomes. PMID:25297727
A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival. PMID:25294155
Functional diversification of vitamin D receptor paralogs in teleost fish after a whole genome duplication event. PMID:25279795
RNF213 rare variants in an ethnically diverse population with Moyamoya disease. PMID:25278557
Estrogen receptor alpha prevents bladder cancer via INPP4B inhibited akt pathway in vitro and in vivo. PMID:25277204
Systematic expression profiling analysis identifies specific microRNA-gene interactions that may differentiate between active and latent tuberculosis infection. PMID:25276827
RNA-seq Data: Challenges in and Recommendations for Experimental Design and Analysis. PMID:25271838
The basal epithelial marker P-cadherin associates with breast cancer cell populations harboring a glycolytic and acid-resistant phenotype. PMID:25269858
The structure, function and evolution of proteins that bind DNA and RNA. PMID:25269475
AnimalTFDB 2.0: a resource for expression, prediction and functional study of animal transcription factors. PMID:25262351
Zebrafish vasa is required for germ-cell differentiation and maintenance. PMID:25257909
GeneMANIA: Fast gene network construction and function prediction for Cytoscape. PMID:25254104
Nova1 is a master regulator of alternative splicing in pancreatic beta cells. PMID:25249621
Expression of ORAII, a plasma membrane resident subunit of the CRAC channel, in rodent and non-rodent species. PMID:25249026
Telomere-regulating genes and the telomere interactome in familial cancers. PMID:25244922
Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertility. PMID:25244517
Mitochondrial data are not suitable for resolving placental mammal phylogeny. PMID:25239304
The Ensembl REST API: Ensembl Data for Any Language. PMID:25236461
Identification and characterization of a novel evolutionarily conserved lysine-specific methyltransferase targeting eukaryotic translation elongation factor 2 (eEF2). PMID:25231979
Molecular characterization of common fragile sites as a strategy to discover cancer susceptibility genes. PMID:25231336
The genome of the chicken DT40 bursal lymphoma cell line. PMID:25227228
Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness. PMID:25225945
Volatile evolution of long noncoding RNA repertoires: mechanisms and biological implications. PMID:25218058
Resetting transcription factor control circuitry toward ground-state pluripotency in human. PMID:25215486
Matrix proteins of Nipah and Hendra viruses interact with beta subunits of AP-3 complexes. PMID:25210190
We are all individuals... bioinformatics in the personalized medicine era. PMID:25204962
Single nucleotide polymorphisms in AREG and EREG are prognostic biomarkers in locally advanced gastric cancer patients after surgery with curative intent. PMID:25203737
NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples. PMID:25201160
Analysis of gene expression profiles of soft tissue sarcoma using a combination of knowledge-based filtering with integration of multiple statistics. PMID:25188299
MicroRNA-34 family expression in bovine gametes and preimplantation embryos. PMID:25179211
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. PMID:25173105
Novel X-linked genes revealed by quantitative polymerase chain reaction in the green anole, Anolis carolinensis. PMID:25172916
Genome-wide DNA methylation patterns in LSH mutant reveals de-repression of repeat elements and redundant epigenetic silencing pathways. PMID:25170028
An intronic PICALM polymorphism, rs588076, is associated with allelic expression of a PICALM isoform. PMID:25169757
Making proteomics data accessible and reusable: current state of proteomics databases and repositories. PMID:25158685
Cardiac remodelling during pregnancy: whither the guinea pig? PMID:25155044
High-resolution mapping of transcriptional dynamics across tissue development reveals a stable mRNA-tRNA interface. PMID:25122613
Distinct isoform of FABP7 revealed by screening for retroelement-activated genes in diffuse large B-cell lymphoma. PMID:25114248
Gene density and chromosome territory shape. PMID:25106753
Cell fate inclination within 2-cell and 4-cell mouse embryos revealed by single-cell RNA sequencing. PMID:25096407
The histidine-rich glycoprotein A1042G polymorphism and recurrent miscarriage: a pilot study. PMID:25064236
A new dataset of spermatogenic vs. oogenic transcriptomes in the nematode Caenorhabditis elegans. PMID:25060624
Starvation-response may not involve Atg1-dependent autophagy induction in non-unikont parasites. PMID:25059978
Low coverage sequencing of two Asian elephant (Elephas maximus) genomes. PMID:25053995
Extreme expansion of the olfactory receptor gene repertoire in African elephants and evolutionary dynamics of orthologous gene groups in 13 placental mammals. PMID:25053675
Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency. PMID:25053016
A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1. PMID:25009150
A novel histone deacetylase complex in the control of transcription and genome stability. PMID:25002536
Exploring the stability of long intergenic non-coding RNA in K562 cells by comparative studies of RNA-Seq datasets. PMID:24996425
XB130-A Novel Adaptor Protein: Gene, Function, and Roles in Tumorigenesis. PMID:24995146
Design and development of exome capture sequencing for the domestic pig (Sus scrofa). PMID:24988888
Epigenetic genes and emotional reactivity to daily life events: a multi-step gene-environment interaction study. PMID:24967710
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study. PMID:24956927
Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures. PMID:24916972
Gene co-expression network analysis identifies porcine genes associated with variation in Salmonella shedding. PMID:24912583
MOPED 2.5--an integrated multi-omics resource: multi-omics profiling expression database now includes transcriptomics data. PMID:24910945
Identification of potential therapeutic targets in a model of neuropathic pain. PMID:24904634
Apolipoprotein L2 contains a BH3-like domain but it does not behave as a BH3-only protein. PMID:24901046
Validation of six genetic determinants of susceptibility to estrogen-induced mammary cancer in the rat and assessment of their relevance to breast cancer risk in humans. PMID:24875630
The Drosophila effector caspase Dcp-1 regulates mitochondrial dynamics and autophagic flux via SesB. PMID:24862573
Exosomes in human semen carry a distinctive repertoire of small non-coding RNAs with potential regulatory functions. PMID:24838567
TogoTable: cross-database annotation system using the Resource Description Framework (RDF) data model. PMID:24829452
Vitamin D and the epigenome. PMID:24808866
A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies. PMID:24803668
Patterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patients. PMID:24794429
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. PMID:24770881
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. PMID:24759411
RetrogeneDB--a database of animal retrogenes. PMID:24739306
What's that gene (or protein)? Online resources for exploring functions of genes, transcripts, and proteins. PMID:24723265
Whole-genome sequencing of six dog breeds from continuous altitudes reveals adaptation to high-altitude hypoxia. PMID:24721644
LaSSO, a strategy for genome-wide mapping of intronic lariats and branch points using RNA-seq. PMID:24709818
Resources for functional genomics studies in Drosophila melanogaster. PMID:24653003
Expert curation in UniProtKB: a case study on dealing with conflicting and erroneous data. PMID:24622611