Database of Single Nucleotide Polymorphism
Names
More detailed information about this field from each metasource.
Database of Single Nucleotide Polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
dbSNP
metasource: Fairsharing.org
version: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
Database for short genetic variations
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
SNV
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
dbsnp
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866
Names
More detailed information about this field from each metasource.
Database of Single Nucleotide Polymorphism
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
dbSNP
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
Database for short genetic variations
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
SNV
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
dbsnp
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:07.435866
Other names: dbSNP, Database for short genetic variations, SNV, dbsnp
Names
More detailed information about this field from each metasource.
Database of Single Nucleotide Polymorphism
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
dbSNP
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
Database for short genetic variations
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
SNV
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
dbsnp
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:07.435866
dbSNP contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variations and clinical mutations.
Description
More detailed information about this field from each metasource.
dbSNP contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variations and clinical mutations.
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
metasource: Fairsharing.org
version: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
The NCBI Short Genetic Variations database, commonly known as dbSNP, catalogs short variations in nucleotide sequences from a wide range of organisms. These variations include single nucleotide variations, short nucleotide insertions and deletions, short tandem repeats and microsatellites. Short Genetic Variations may be common, thus representing true polymorphisms, or they may be rare. Some rare human entries have additional information associated withthem, including disease associations, genotype information and allele origin, as some variations are somatic rather than germline events. ***NCBI will phase out support for non-human organism data in dbSNP and dbVar beginning on September 1, 2017***
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
Database of single nucleotide polymorphism (dbSNP) contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variations and clinical mutations.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:07.435866
Webpage:
https://www.ncbi.nlm.nih.gov/snp/Webpage
More detailed information about this field from each metasource.
https://www.ncbi.nlm.nih.gov/snp/
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
http://www.ncbi.nlm.nih.gov/snp/
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
http://www.ncbi.nlm.nih.gov/SNP/
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:07.435866
Licence:
Name: NCBI - specific / free to use and distributeLicence name
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NCBI - specific / free to use and distribute
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
Open Data Commons (ODC) Public Domain Dedication and Licence (PDDL) 1.0
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
other
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
Licence URL
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https://www.ncbi.nlm.nih.gov/home/about/policies/
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
http://opendatacommons.org/licenses/pddl/1.0/
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
Publications:
Publications
More detailed information about this field from each metasource.
dbSNP: the NCBI database of genetic variation
PMID: 11125122
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
metasource: Fairsharing.org
version: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
http://dx.doi.org/10.1093/nar/29.1.308
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866
Publications
More detailed information about this field from each metasource.
dbSNP: the NCBI database of genetic variation
PMID: 11125122
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
metasource: Fairsharing.org
version: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
http://dx.doi.org/10.1093/nar/29.1.308
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:07.435866
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dbSNP: the NCBI database of genetic variation
PubMed citations: 3130.
3130 articles citing: dbSNP: the NCBI database of genetic variation
Survey of the binding preferences of RNA-binding proteins to RNA editing events. PMID:35927743
Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis. PMID:35927245
Alternatively Spliced Isoforms of the P2X7 Receptor: Structure, Function and Disease Associations. PMID:35897750
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases. PMID:35887629
SparkGC: Spark based genome compression for large collections of genomes. PMID:35879669
Discovering the drivers of clonal hematopoiesis. PMID:35871184
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum. PMID:35865963
Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan. PMID:35864541
Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation. PMID:35864526
Peripheral blood DNA methylation profiles predict future development of B-cell Non-Hodgkin Lymphoma. PMID:35864305
Biallelic and gene-wide genomic substitution for endogenous intron and retroelement mutagenesis in human cells. PMID:35864085
Sex hormone-related polymorphisms in endometriosis and migraine: A narrative review. PMID:35848345
Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank. PMID:35841873
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis. PMID:35835912
Single-cell DNA sequencing identifies risk-associated clonal complexity and evolutionary trajectories in childhood medulloblastoma development. PMID:35831448
The lack of association between PADI4_94 or PADI4_104 polymorphisms and RF, ACPA and anti-PAD4 in patients with rheumatoid arthritis. PMID:35831381
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions. PMID:35821352
The heterogeneous pharmacological medical biochemical network PharMeBINet. PMID:35821017
Dissecting Generalizability and Actionability of Disease-Associated Genes From 20 Worldwide Ethnolinguistic Cultural Groups. PMID:35812734
Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. PMID:35794096
Quality control of large genome datasets. PMID:35789587
Somatic variant calling from single-cell DNA sequencing data. PMID:35782734
Disaster and Pandemic Management Using Machine Learning: A Survey. PMID:35782181
The role of ERK-1 and ERK-2 gene polymorphisms in PCOS pathogenesis. PMID:35768803
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers. PMID:35761208
RegEl corpus: identifying DNA regulatory elements in the scientific literature. PMID:35758881
Pharmacogenetics of Praziquantel Metabolism: Evaluating the Cytochrome P450 Genes of Zimbabwean Patients During a Schistosomiasis Treatment. PMID:35754834
A new deep learning technique reveals the exclusive functional contributions of individual cancer mutations. PMID:35753349
TCGA-My: A Systematic Repository for Systems Biology of Malaysian Colorectal Cancer. PMID:35743803
PhenGenVar: A User-Friendly Genetic Variant Detection and Visualization Tool for Precision Medicine. PMID:35743744
Influence of Insulin Receptor Single Nucleotide Polymorphisms on Glycaemic Control and Formation of Anti-Insulin Antibodies in Diabetes Mellitus. PMID:35742925
Potential Therapeutic Candidates against Chlamydia pneumonia Discovered and Developed In Silico Using Core Proteomics and Molecular Docking and Simulation-Based Approaches. PMID:35742569
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity. PMID:35741818
Genome-Wide Meta-Analysis Identifies Variants in DSCAM and PDLIM3 That Correlate with Efficacy Outcomes in Metastatic Renal Cell Carcinoma Patients Treated with Sunitinib. PMID:35740506
Epigenetic Signatures of Centrosomes Are Novel Targets in Cancer Diagnosis: Insights from an Analysis of the Cancer Genome Atlas. PMID:35735471
Molecular signatures of long-term hepatocellular carcinoma risk in nonalcoholic fatty liver disease. PMID:35731891
Association Studies and Genomic Prediction for Genetic Improvements in Agriculture. PMID:35720549
Single Nucleotide Polymorphisms (SNP) and SNP-SNP Interactions of the Surfactant Protein Genes Are Associated With Idiopathic Pulmonary Fibrosis in a Mexican Study Group; Comparison With Hypersensitivity Pneumonitis. PMID:35720392
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes. PMID:35706047
The Roles of Par3, Par6, and aPKC Polarity Proteins in Normal Neurodevelopment and in Neurodegenerative and Neuropsychiatric Disorders. PMID:35705493
Direct identification of A-to-I editing sites with nanopore native RNA sequencing. PMID:35697834
Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity. PMID:35694544
Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India. PMID:35693198
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome. PMID:35688147
Bioarchaeological evidence of one of the earliest Islamic burials in the Levant. PMID:35672445
Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes. PMID:35656234
CAD v1.0: Cancer Antigens Database Platform for Cancer Antigen Algorithm Development and Information Exploration. PMID:35646870
Genetic Alterations in Papillary Thyroid Carcinoma With Hashimoto's Thyroiditis： ANK3, an Indolent Maintainer of Papillary Thyroid Carcinoma. PMID:35646694
Characteristics of Genomic Alterations in Pericardial Effusion of Advanced Non-small Cell Lung Cancer. PMID:35646096
Evaluation of Pharmacogenetics of Drug-Metabolizing Enzymes and Drug Efflux Transporter in Renal Transplants Receiving Immunosuppressants. PMID:35629245
The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren's Contracture. PMID:35627129
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project. PMID:35618720
The impact of ALDH7A1 variants in oral cancer development and prognosis. PMID:35613852
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia. PMID:35613087
Multiaspect Examinations of Possible Alternative Mappings of Identified Variant Peptides: A Case Study on the HEK293 Cell Line. PMID:35601313
Bioinformatics for the Origin and Evolution of Viruses. PMID:35594020
A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data. PMID:35591888
Increased genetic contribution to wellbeing during the COVID-19 pandemic. PMID:35588108
Translocator Protein (18 kDa) Polymorphism (rs6971) in the Korean Population. PMID:35585910
SPRISS: Approximating Frequent K-mers by Sampling Reads, and Applications. PMID:35583271
Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital Neutropenia and Osteopetrosis. PMID:35573728
In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis. PMID:35571273
Novel MicroRNA-Regulated Transcript Networks Are Associated with Chemotherapy Response in Ovarian Cancer. PMID:35563265
TMC-SNPdb 2.0: an ethnic-specific database of Indian germline variants. PMID:35551364
Pathway-Based Analysis Revealed the Role of Keap1-Nrf2 Pathway and PI3K-Akt Pathway in Chinese Esophageal Squamous Cell Carcinoma Patients With Definitive Chemoradiotherapy. PMID:35548450
Molecular Dynamics Simulation and Essential Dynamics of Deleterious Proline 12 Alanine Single-Nucleotide Polymorphism in PPARγ2 Associated with Type 2 Diabetes, Cardiovascular Disease, and Nonalcoholic Fatty Liver Disease. PMID:35547362
Comparative analysis of web-based programs for single amino acid substitutions in proteins. PMID:35507592
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women. PMID:35502621
A systems genomics approach to uncover patient-specific pathogenic pathways and proteins in ulcerative colitis. PMID:35484353
Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs. PMID:35463004
Impact of the Genotype and Phenotype of CYP3A and P-gp on the Apixaban and Rivaroxaban Exposure in a Real-World Setting. PMID:35455642
Cardiometabolic Health in Adolescents and Young Adults with Congenital Adrenal Hyperplasia. PMID:35454339
ANANASTRA: annotation and enrichment analysis of allele-specific transcription factor binding at SNPs. PMID:35446421
Analysis of the APOB Gene and Apolipoprotein B Serum Levels in a Mexican Population with Acute Coronary Syndrome: Association with the Single Nucleotide Variants rs1469513, rs673548, rs676210, and rs1042034. PMID:35440891
A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation. PMID:35440565
An evolutionarily conserved stop codon enrichment at the 5' ends of mammalian piRNAs. PMID:35440552
A pilot study of ADRA2A genotype association with doses of dexmedetomidine for sedation in pediatric patients. PMID:35429176
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic >KRAS Variation. PMID:35418823
A systematic review and functional bioinformatics analysis of genes associated with Crohn's disease identify more than 120 related genes. PMID:35418025
Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database. PMID:35411390
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes. PMID:35410384
Associations between Omega-3 Index, Dopaminergic Genetic Variants and Aggressive and Metacognitive Traits: A Study in Adult Male Prisoners. PMID:35405990
Are transient protein-protein interactions more dispensable? PMID:35404956
SNP-SNP Interactions of Surfactant Protein Genes in Persistent Respiratory Morbidity Susceptibility in Previously Healthy Children. PMID:35401703
Population Genetic Structure and Selection Signature Analysis of Beijing Black Pig. PMID:35401688
PPVED: A machine learning tool for predicting the effect of single amino acid substitution on protein function in plants. PMID:35398963
Genetic variants underlying differences in facial morphology in East Asian and European populations. PMID:35393595
An Amish founder population reveals rare-population genetic determinants of the human lipidome. PMID:35393526
Genetic loci and metabolic states associated with murine epigenetic aging. PMID:35389339
Eukaryotic tRNA sequences present conserved and amino acid-specific structural signatures. PMID:35380696
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses. PMID:35365635
Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report. PMID:35363175
Neurobiological, familial and genetic risk factors for dimensional psychopathology in the Adolescent Brain Cognitive Development study. PMID:35361904
Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2). PMID:35343647
Guide RNAs containing universal bases enable Cas9/Cas12a recognition of polymorphic sequences. PMID:35338140
Epitope-based peptide vaccine design and elucidation of novel compounds against 3C like protein of SARS-CoV-2. PMID:35324925
ADARs act as potent regulators of circular transcriptome in cancer. PMID:35314703
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. PMID:35311178
MicroRNA childhood cancer catalog (M3Cs): a resource for translational bioinformatics toward health informatics in pediatric cancer. PMID:35303059
The Concept of Immunogenetics. PMID:35286690
Splice-disrupt genomic variants in prostate cancer. PMID:35286517
Greater Diffusion Restriction in White Matter in Preclinical Alzheimer Disease. PMID:35285067
Genetic Epidemiology of Medication Safety and Efficacy Related Variants in the Central Han Chinese Population With Whole Genome Sequencing. PMID:35280256
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. PMID:35278131
Exome sequencing identifies variants in infants with sacral agenesis. PMID:35274497
Global DNA methylation profiling reveals chromosomal instability in IDH-mutant astrocytomas. PMID:35264242
RNA-seq and integrated network analysis reveals the hub genes and key pathway of paclitaxel inhibition on Adriamycin resistant diffuse large B cell lymphoma cells. PMID:35263200
Amygdala and anterior cingulate transcriptomes from individuals with bipolar disorder reveal downregulated neuroimmune and synaptic pathways. PMID:35260864
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects. PMID:35260199
Pan-human consensus genome significantly improves the accuracy of RNA-seq analyses. PMID:35256454
Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge. PMID:35251494
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use. PMID:35244186
Multidrug-resistant Uro-associated Escherichia coli Populations and Recurrent Urinary Tract Infections in Patients Performing Clean Intermittent Self-catheterisation. PMID:35243393
Proteome-wide Mendelian randomization identifies causal links between blood proteins and severe COVID-19. PMID:35239653
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
Spatial Multiomics Analysis Reveals Only Minor Genetic and Epigenetic Changes in Human Liver Cancer Stem-Like Cells Compared With Other Tumor Parenchymal Cells. PMID:35223840
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability. PMID:35216386
Association of P450 Oxidoreductase Gene Polymorphism with Tacrolimus Pharmacokinetics in Renal Transplant Recipients: A Systematic Review and Meta-Analysis. PMID:35213993
Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson's Disease. PMID:35207708
Pharmacogenetics of Drugs Used in the Treatment of Cancers. PMID:35205356
Whole Genome Sequencing Unravels New Genetic Determinants of Early-Onset Familial Osteoporosis and Low BMD in Malta. PMID:35205249
Does circulating progesterone mediate the associations of single nucleotide polymorphisms in progesterone receptor (PGR)-related genes with mammographic breast density in premenopausal women? PMID:35201469
Genomic characterization of the world's longest selection experiment in mouse reveals the complexity of polygenic traits. PMID:35189878
Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma. PMID:35186718
TRmir: A Comprehensive Resource for Human Transcriptional Regulatory Information of MiRNAs. PMID:35186035
A comparison of experimental assays and analytical methods for genome-wide identification of active enhancers. PMID:35177836
Tool evaluation for the detection of variably sized indels from next generation whole genome and targeted sequencing data. PMID:35176018
The S100A7 nuclear interactors in autoimmune diseases: a coevolutionary study in mammals. PMID:35174412
Life-Threatening Docetaxel Toxicity in a Patient With Reduced-Function CYP3A Variants: A Case Report. PMID:35174070
Delineating the intra-patient heterogeneity of molecular alterations in treatment-naïve colorectal cancer with peritoneal carcinomatosis. PMID:35169225
NETMAGE: A human disease phenotype map generator for the network-based visualization of phenome-wide association study results. PMID:35166337
Disparities in Lung Cancer: miRNA Isoform Characterization in Lung Adenocarcinoma. PMID:35159038
HKG: an open genetic variant database of 205 Hong Kong cantonese exomes. PMID:35156024
Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation. PMID:35154276
Physiological and Multi-Omics Approaches for Explaining Drought Stress Tolerance and Supporting Sustainable Production of Rice. PMID:35154193
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
Elucidating minimal residual disease of paediatric B-cell acute lymphoblastic leukaemia by single-cell analysis. PMID:35145224
Deciphering spatial genomic heterogeneity at a single cell resolution in multiple myeloma. PMID:35145077
A Syndrome of Variable Allergy, Short Stature, and Fatty Liver. PMID:35140738
Zebrafish patient-derived xenograft models predict lymph node involvement and treatment outcome in non-small cell lung cancer. PMID:35139880
CATA: a comprehensive chromatin accessibility database for cancer. PMID:35134148
The association of four genetic variants with myelosuppression in gemcitabine-treated Japanese is not evident in gemcitabine/carboplatin-treated Swedes. PMID:35132780
Linkage analysis identifies novel genetic modifiers of microbiome traits in families with inflammatory bowel disease. PMID:35129060
Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination. PMID:35122187
Placental genomics mediates genetic associations with complex health traits and disease. PMID:35121757
Computational Prediction of the Pathogenic Status of Cancer-Specific Somatic Variants. PMID:35116056
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. PMID:35108495
Evaluation of the EMPAR study population on the basis of metabolic phenotypes of selected pharmacogenes. PMID:35102241
Transmembrane Helices Are an Over-Presented and Evolutionarily Conserved Source of Major Histocompatibility Complex Class I and II Epitopes. PMID:35087515
Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis. PMID:35075162
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
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations. PMID:35064169
Polympact: exploring functional relations among common human genetic variants. PMID:35061909
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics. PMID:35055388
Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models. PMID:35052430
Scripting Analyses of Genomes in Ensembl Plants. PMID:35037199
Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel. PMID:35033063
Evaluating the association of TRPA1 gene polymorphisms with pain sensitivity: a protocol for an adaptive recall by genotype study. PMID:35022050
SARS-CoV-2-Encoded MiRNAs Inhibit Host Type I Interferon Pathway and Mediate Allelic Differential Expression of Susceptible Gene. PMID:35003084
The association between two genetic polymorphisms in ITGB3 and increase risk of venous thromboembolism in cancer patients in Eastern Province of Saudi Arabia. PMID:35002407
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. PMID:34999892
Limb development genes underlie variation in human fingerprint patterns. PMID:34995520
m5C-Atlas: a comprehensive database for decoding and annotating the 5-methylcytosine (m5C) epitranscriptome. PMID:34986603
ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome. PMID:34966851
Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome. PMID:34965247
The aryl hydrocarbon receptor as a model PAS sensor. PMID:34950569
Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease. PMID:34946808
In-silico analysis reveals druggable single nucleotide polymorphisms in angiotensin 1 converting enzyme involved in the onset of blood pressure. PMID:34930451
Intellectual disability genomics: current state, pitfalls and future challenges. PMID:34930158
Single-Nucleotide Polymorphisms Promote Dysregulation Activation by Essential Gene Mediated Bio-Molecular Interaction in Breast Cancer. PMID:34926308
Functional and structural analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the MYB oncoproteins associated with human cancer. PMID:34921182
Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences. PMID:34910759
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes. PMID:34905135
Robust deep learning model for prognostic stratification of pancreatic ductal adenocarcinoma patients. PMID:34901786
A reference-quality, fully annotated genome from a Puerto Rican individual. PMID:34897437
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants. PMID:34893635
The power of genetic diversity in genome-wide association studies of lipids. PMID:34887591
Pharmacogenetics of induction therapy-related toxicities in childhood acute lymphoblastic leukemia patients treated with UKALL 2003 protocol. PMID:34887513
Computational analysis of cancer genome sequencing data. PMID:34880424
Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved in human reproduction. PMID:34879103
RefSeq Functional Elements as experimentally assayed nongenic reference standards and functional interactions in human and mouse. PMID:34876495
piRBase: integrating piRNA annotation in all aspects. PMID:34871445
A Model of Minor Histocompatibility Antigens in Allogeneic Hematopoietic Cell Transplantation. PMID:34868058
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report. PMID:34863162
Variant interpretation using population databases: Lessons from gnomAD. PMID:34859531
A comprehensive in silico investigation into the nsSNPs of Drd2 gene predicts significant functional consequences in dopamine signaling and pharmacotherapy. PMID:34853389
Decoding the effects of synonymous variants. PMID:34850938
miRTarBase update 2022: an informative resource for experimentally validated miRNA-target interactions. PMID:34850920
CRISPRroots: on- and off-target assessment of RNA-seq data in CRISPR-Cas9 edited cells. PMID:34850137
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India. PMID:34849271
Real-world data analysis of patients with cancer of unknown primary. PMID:34845302
Identification and in vitro validation of neoantigens for immune activation against high-risk pediatric leukemia cells. PMID:34844524
Association between TBXT rs2305089 polymorphism and chordoma in Iranian patients identified by a developed T-ARMS-PCR assay. PMID:34837714
Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes. PMID:34836952
Protein Aggregation of NPAS3, Implicated in Mental Illness, Is Not Limited to the V304I Mutation. PMID:34834422
Comprehensive Characterization of the Coding and Non-Coding Single Nucleotide Polymorphisms in the Tumor Protein p63 (TP63) Gene Using In Silico Tools. PMID:34827731
Genetic diversity of 'Very Important Pharmacogenes' in two South-Asian populations. PMID:34824904
Clinicopathologic and molecular analysis of a BCOR-CCNB3 undifferentiated sarcoma of the kidney reveals significant epigenetic alterations. PMID:34819304
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial. PMID:34816521
Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus. PMID:34815695
Clonal Hematopoiesis Mutations in Patients with Lung Cancer Are Associated with Lung Cancer Risk Factors. PMID:34815255
Impact of Deleterious Mutations on Structure, Function and Stability of Serum/Glucocorticoid Regulated Kinase 1: A Gene to Diseases Correlation. PMID:34805284
Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. PMID:34795337
CircleBase: an integrated resource and analysis platform for human eccDNAs. PMID:34792166
Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus. PMID:34791504
Ensembl 2022. PMID:34791404
Does circulating progesterone mediate the associations of single nucleotide polymorphisms in progesterone receptor (PGR)-related genes with mammographic breast density in premenopausal women? PMID:34790961
Ribonuclease 7 polymorphism rs1263872 reduces antimicrobial activity and associates with pediatric urinary tract infections. PMID:34779412
PIK3R5 genetic predictors of hypertension induced by VEGF-pathway inhibitors. PMID:34775477
Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria. PMID:34762194
Global RNA editing identification and characterization during human pluripotent-to-cardiomyocyte differentiation. PMID:34760335
Network analysis reveals rare disease signatures across multiple levels of biological organization. PMID:34753928
VARIDT 2.0: structural variability of drug transporter. PMID:34747471
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants. PMID:34746235
Association of FTO rs1421085 single nucleotide polymorphism with fat and fatty acid intake in Indonesian adults. PMID:34743743
Conservation and divergence in gene regulation between mouse and human immune cells deserves equal emphasis. PMID:34740529
Computational and structural based approach to identify malignant nonsynonymous single nucleotide polymorphisms associated with CDK4 gene. PMID:34735543
Ideafix: a decision tree-based method for the refinement of variants in FFPE DNA sequencing data. PMID:34729472
3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database. PMID:34723317
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations. PMID:34721006
TcoFBase: a comprehensive database for decoding the regulatory transcription co-factors in human and mouse. PMID:34718747
Gene-Level Germline Contributions to Clinical Risk of Recurrence Scores in Black and White Patients with Breast Cancer. PMID:34711612
A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations. PMID:34708937
Genomics of Alzheimer's disease implicates the innate and adaptive immune systems. PMID:34708251
Network-driven analysis of human-Plasmodium falciparum interactome: processes for malaria drug discovery and extracting in silico targets. PMID:34702263
Chromatin accessibility and gene expression during adipocyte differentiation identify context-dependent effects at cardiometabolic GWAS loci. PMID:34699533
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region. PMID:34691145
Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia. PMID:34684072
Designing a Multi-Epitope Vaccine against Chlamydia trachomatis by Employing Integrated Core Proteomics, Immuno-Informatics and In Silico Approaches. PMID:34681096
Risk of migraine contributed by genetic polymorphisms of ANKDD1B gene: a case-control study based on Chinese Han population. PMID:34669083
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls. PMID:34656763
RNA Sequencing Data for FFPE Tumor Blocks Can Be Used for Robust Estimation of Tumor Mutation Burden in Individual Biosamples. PMID:34650919
Prioritization of regulatory variants with tissue-specific function in the non-coding regions of human genome. PMID:34648033
Ancestral Spectrum Analysis With Population-Specific Variants. PMID:34646302
PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life. PMID:34646120
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. PMID:34645894
Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass. PMID:34639175
Association of TLR 9 gene polymorphisms with remission in patients with rheumatoid arthritis receiving TNF-α inhibitors and development of machine learning models. PMID:34635730
UNMASC: tumor-only variant calling with unmatched normal controls. PMID:34632388
Comparison of sequencing data processing pipelines and application to underrepresented African human populations. PMID:34627144
caAtlas: An immunopeptidome atlas of human cancer. PMID:34622160
Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients. PMID:34616010
A CIBERSORTx-based immune cell scoring system could independently predict the prognosis of patients with myelodysplastic syndromes. PMID:34614508
Genetic Variants of CLPP and M1AP Are Associated With Risk of Non-Small Cell Lung Cancer. PMID:34604049
A randomized, double-blind, placebo-controlled trial of ondansetron for the treatment of cocaine use disorder with post hoc pharmacogenetic analysis. PMID:34600264
Large-scale analysis of imprinting in naive human pluripotent stem cells reveals recurrent aberrations and a potential link to FGF signaling. PMID:34597600
Gosling: A Grammar-based Toolkit for Scalable and Interactive Genomics Data Visualization. PMID:34596551
Developmental Considerations for the Use of Naltrexone in Children and Adolescents. PMID:34588931
Whole-Genome Profiles of Malay Colorectal Cancer Patients with Intact MMR Proteins. PMID:34573430
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations. PMID:34573371
Accurate Sequence-Based Prediction of Deleterious nsSNPs with Multiple Sequence Profiles and Putative Binding Residues. PMID:34572550
VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases. PMID:34570217
Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48). PMID:34565360
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms. PMID:34559197
Genetic demultiplexing of pooled single-cell RNA-sequencing samples in cancer facilitates effective experimental design. PMID:34553212
Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features. PMID:34552920
Association between the FTO rs9939609 single nucleotide polymorphism and dietary adherence during a 2-year caloric restriction intervention: Exploratory analyses from CALERIE™ phase 2. PMID:34543722
S19W, T27W, and N330Y mutations in ACE2 enhance SARS-CoV-2 S-RBD binding toward both wild-type and antibody-resistant viruses and its molecular basis. PMID:34531369
Identification of tissue-specific and common methylation quantitative trait loci in healthy individuals using MAGAR. PMID:34530905
Genetic predisposition to tinnitus in the UK Biobank population. PMID:34518561
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. PMID:34510628
Integrative analysis of epigenetics data identifies gene-specific regulatory elements. PMID:34508352
Differential whole-genome doubling and homologous recombination deficiencies across breast cancer subtypes from the Taiwanese population. PMID:34504292
iSheep: an Integrated Resource for Sheep Genome, Variant and Phenotype. PMID:34490043
Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma. PMID:34465776
A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review. PMID:34465349
Methods and Developments in Graphical Pangenomics. PMID:34456520
Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study. PMID:34449562
Pan-cancer analysis of longitudinal metastatic tumors reveals genomic alterations and immune landscape dynamics associated with pembrolizumab sensitivity. PMID:34446728
Analysis of Selected Variants of DRD2 and ANKK1 Genes in Combat Athletes. PMID:34440413
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder. PMID:34440290
Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma. PMID:34439371
A global map of associations between types of protein posttranslational modifications and human genetic diseases. PMID:34430807
Genomic Analysis Reveals Heterogeneity Between Lesions in Synchronous Primary Right-Sided and Left-Sided Colon Cancer. PMID:34422903
Characterizing miRNA-lncRNA Interplay. PMID:34417757
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country. PMID:34395220
Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping. PMID:34395068
Computational Analysis of Gly482Ser Single-Nucleotide Polymorphism in PPARGC1A Gene Associated with CAD, NAFLD, T2DM, Obesity, Hypertension, and Metabolic Diseases. PMID:34394332
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation. PMID:34393998
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility. PMID:34379666
Measuring and interpreting pervasive heterogeneity, poikilosis. PMID:34377957
An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds. PMID:34356081
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children. PMID:34355505
Targeting mitotic exit in solid tumors. PMID:34354869
ACO2 clinicobiological dataset with extensive phenotype ontology annotation. PMID:34354088
Whole genome sequencing of low input circulating cell-free DNA obtained from normal human subjects. PMID:34350716
IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling. PMID:34349788
Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in mice†. PMID:34333627
Careful feature selection is key in classification of Alzheimer's disease patients based on whole-genome sequencing data. PMID:34327330
Identification of the Hub Genes in Alzheimer's Disease. PMID:34326892
Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants. PMID:34316407
Resource-efficient pooled sequencing expands translational impact in solid tumors. PMID:34316321
Using bioinformatics approaches to investigate driver genes and identify BCL7A as a prognostic gene in colorectal cancer. PMID:34306573
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. PMID:34301805
Drugs and Epigenetic Molecular Functions. A Pharmacological Data Scientometric Analysis. PMID:34298869
Recessive/dominant model: Alternative choice in case-control-based genome-wide association studies. PMID:34288964
A survey of direct-to-consumer genotype data, and quality control tool (GenomePrep) for research. PMID:34285776
Single Cell Genetic Profiling of Tumors of Breast Cancer Patients Aged 50 Years and Older Reveals Enormous Intratumor Heterogeneity Independent of Individual Prognosis. PMID:34282768
Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes. PMID:34282249
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis. PMID:34274969
Effective variant filtering and expected candidate variant yield in studies of rare human disease. PMID:34267211
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype. PMID:34258273
New approaches to predict the effect of co-occurring variants on protein characteristics. PMID:34256028
Adiponectin, Leptin, and IGF-1 Are Useful Diagnostic and Stratification Biomarkers of NAFLD. PMID:34249975
Novel Gene Mutations Regulating Immune Responses in Autoimmune Polyglandular Syndrome With an Atypical Course. PMID:34235359
Highly pleiotropic variants of human traits are enriched in genomic regions with strong background selection. PMID:34228221
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy. PMID:34224328
Prevalence of rare F5 variants in general population from Bosnia and Herzegovina. PMID:34215992
Highly multiplexed rapid DNA detection with single-nucleotide specificity via convective PCR in a portable device. PMID:34211146
High-resolution characterization of gene function using single-cell CRISPR tiling screen. PMID:34210975
Histone H2B Mutations in Cancer. PMID:34205231
Bioinformatics Accelerates the Major Tetrad: A Real Boost for the Pharmaceutical Industry. PMID:34201152
Machine Learning Approaches for Predicting Bisphosphonate-Related Osteonecrosis in Women with Osteoporosis Using VEGFA Gene Polymorphisms. PMID:34200782
NKG2D Natural Killer Cell Receptor-A Short Description and Potential Clinical Applications. PMID:34200375
Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure. PMID:34199109
The effect of protein mutations on drug binding suggests ensuing personalised drug selection. PMID:34188094
BIGwas: Single-command quality control and association testing for multi-cohort and biobank-scale GWAS/PheWAS data. PMID:34184051
The MicroRNA Family Gets Wider: The IsomiRs Classification and Role. PMID:34178993
Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population. PMID:34178030
Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders. PMID:34177904
LncRNAs and Available Databases. PMID:34160796
Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. PMID:34155038
Perinatal exposure to nicotine alters spermatozoal DNA methylation near genes controlling nicotine action. PMID:34153130
CD8+ T cell immunity blocks the metastasis of carcinogen-exposed breast cancer. PMID:34144976
Recent advances in functional annotation and prediction of the epitranscriptome. PMID:34136099
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology. PMID:34127679
In silico analysis of deleterious SNPs of human MTUS1 gene and their impacts on subsequent protein structure and function. PMID:34125870
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome. PMID:34125832
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction. PMID:34118926
The GEnetic Syntax Score: a genetic risk assessment implementation tool grading the complexity of coronary artery disease-rationale and design of the GESS study. PMID:34103005
Replicate sequencing libraries are important for quantification of allelic imbalance. PMID:34099647
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction. PMID:34095246
Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference. PMID:34092963
SnoRNA copy regulation affects family size, genomic location and family abundance levels. PMID:34090325
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. PMID:34087052
Eleven genomic loci affect plasma levels of chronic inflammation marker soluble urokinase-type plasminogen activator receptor. PMID:34079037
Somatic Functional Deletions of Upstream Open Reading Frame-Associated Initiation and Termination Codons in Human Cancer. PMID:34072580
Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma. PMID:34070951
Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings. PMID:34067575
Analysis and Interpretation of the Impact of Missense Variants in Cancer. PMID:34063805
Exonic variants undergoing allele-specific selection in cancers. PMID:34059054
Deep conservation of ribosome stall sites across RNA processing genes. PMID:34056595
Assessing the functional relevance of splice isoforms. PMID:34046593
Rare protein-coding variants implicate genes involved in risk of suicide death. PMID:34042246
High Response Rate and Durability Driven by HLA Genetic Diversity in Patients with Kidney Cancer Treated with Lenvatinib and Pembrolizumab. PMID:34039647
Cataloguing experimentally confirmed 80.7 kb-long ACKR1 haplotypes from the 1000 Genomes Project database. PMID:34039276
Lantern: an integrative repository of functional annotations for lncRNAs in the human genome. PMID:34039271
Genetic effects on liver chromatin accessibility identify disease regulatory variants. PMID:34038741
High-Resolution Characterization of KIR Genes in a Large North American Cohort Reveals Novel Details of Structural and Sequence Diversity. PMID:34025673
Inducible expression quantitative trait locus analysis of the MUC5AC gene in asthma in urban populations of children. PMID:34019912
Unique evolutionary trajectories of breast cancers with distinct genomic and spatial heterogeneity. PMID:34011996
Reproductive history determines Erbb2 locus amplification, WNT signalling and tumour phenotype in a murine breast cancer model. PMID:34003256
Genome-wide detection of CNVs and their association with performance traits in broilers. PMID:34001004
Molecular Evolution of DNA Topoisomerase III Beta (TOP3B) in Metazoa. PMID:33999213
Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children. PMID:33996179
Functional dynamic genetic effects on gene regulation are specific to particular cell types and environmental conditions. PMID:33988505
Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1. PMID:33986331
A non-genetic, cell cycle-dependent mechanism of platinum resistance in lung adenocarcinoma. PMID:33983115
Gene4PD: A Comprehensive Genetic Database of Parkinson's Disease. PMID:33981200
Landscape of allele-specific transcription factor binding in the human genome. PMID:33980847
Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia. PMID:33973092
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
A Population-Specific Major Allele Reference Genome From The United Arab Emirates Population. PMID:33968136
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. PMID:33964006
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations. PMID:33954879
Search for Genetic Predictors of Adult Autoimmune Polyendocrine Syndrome in Monozygotic Twins. PMID:33953634
Forensic nanopore sequencing of STRs and SNPs using Verogen's ForenSeq DNA Signature Prep Kit and MinION. PMID:33950286
SLF1 polymorphism predicts response to oxaliplatin-based adjuvant chemotherapy in patients with colon cancer. PMID:33948371
Spatial Distribution of Private Gene Mutations in Clear Cell Renal Cell Carcinoma. PMID:33946379
A versatile polypharmacology platform promotes cytoprotection and viability of human pluripotent and differentiated cells. PMID:33941937
Learning a genome-wide score of human-mouse conservation at the functional genomics level. PMID:33941776
Predicting Ovarian/Breast Cancer Pathogenic Risks of Human BRCA1 Gene Variants of Unknown Significance. PMID:33937409
The Need for a Human Pangenome Reference Sequence. PMID:33929893
In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity. PMID:33925997
Gene Expression Analysis of Microtubers of Potato Solanum tuberosum L. Induced in Cytokinin Containing Medium and Osmotic Stress. PMID:33925316
Prostate Cancer Mortality Associated with Aggregate Polymorphisms in Androgen-Regulating Genes: The Atherosclerosis Risk in the Communities (ARIC) Study. PMID:33921650
Evolutionary Trajectories and Genomic Divergence in Localized Breast Cancers after Ipsilateral Breast Tumor Recurrence. PMID:33920370
Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant. PMID:33916827
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report. PMID:33910511
Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis. PMID:33907838
Comprehensive genomic analysis contrasting primary colorectal cancer and matched liver metastases. PMID:33907576
Promoter switching in response to changing environment and elevated expression of protein-coding genes overlapping at their 5' ends. PMID:33903630
Toward Colorectal Cancer Biomarkers: The Role of Genetic Variation, Wnt Pathway, and Long Noncoding RNAs. PMID:33891491
COMETS Analytics: An Online Tool for Analyzing and Meta-Analyzing Metabolomics Data in Large Research Consortia. PMID:33889934
The cis-regulatory effects of modern human-specific variants. PMID:33885362
BC-TFdb: a database of transcription factor drivers in breast cancer. PMID:33882119
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
Computational analysis of deleterious single nucleotide polymorphisms in catechol O-Methyltransferase conferring risk to post-traumatic stress disorder. PMID:33865170
A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease. PMID:33855622
Development and Analytical Validation of a Targeted Next-Generation Sequencing Panel to Detect Actionable Mutations for Targeted Therapy. PMID:33854338
Genomic insights into population history and biological adaptation in Oceania. PMID:33854233
Moss enables high sensitivity single-nucleotide variant calling from multiple bulk DNA tumor samples. PMID:33850139
Cardiometabolic risks of SARS-CoV-2 hospitalization using Mendelian Randomization. PMID:33846372
Genetic alterations in Thai adult patients with acute myeloid leukemia and myelodysplastic syndrome-excess blasts detected by next-generation sequencing technique. PMID:33839881
SARS-CoV-2 associated Complement genetic variants possibly deregulate the activation of the Alternative pathway affecting the severity of infection. PMID:33838929
Genomic landscape of extraordinary responses in metastatic breast cancer. PMID:33837242
Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma. PMID:33832503
Whole genome variation in 27 Mexican indigenous populations, demographic and biomedical insights. PMID:33831079
Massive parallel sequencing in a family with rectal cancer. PMID:33827643
Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation. PMID:33827469
Lack of association between TREM2 rs75932628 variant and amyotrophic lateral sclerosis. PMID:33826063
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. PMID:33824317
Common genetic variants and pathways in diabetes and associated complications and vulnerability of populations with different ethnic origins. PMID:33820928
Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms. PMID:33809641
Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression. PMID:33804940
Candidate Markers of Olaparib Response from Genomic Data Analyses of Human Cancer Cell Lines. PMID:33803939
Neo-Fs Index: A Novel Immunohistochemical Biomarker Panel Predicts Survival and Response to Anti-Angiogenetic Agents in Clear Cell Renal Cell Carcinoma. PMID:33801954
Prediction of Functional Consequences of Missense Mutations in ANO4 Gene. PMID:33800471
Deep neural networks identify sequence context features predictive of transcription factor binding. PMID:33796819
Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations. PMID:33796225
A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses. PMID:33783722
A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy. PMID:33783721
Influence of Disease-Causing Mutations on Protein Structural Networks. PMID:33778000
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools. PMID:33770142
Racial and socioeconomic disparity associates with differences in cardiac DNA methylation among men with end-stage heart failure. PMID:33769919
Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations. PMID:33767731
Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients. PMID:33762647
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance. PMID:33743798
Comprehensive analysis of mutational and clinicopathologic characteristics of poorly differentiated colorectal neuroendocrine carcinomas. PMID:33737597
Gene variants of coagulation related proteins that interact with SARS-CoV-2. PMID:33730015
Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing. PMID:33727697
Functional genetic variants of the IFN-λ3 (IL28B) gene and transcription factor interactions on its promoter. PMID:33725487
A showcase study on personalized in silico drug response prediction based on the genetic landscape of muscle invasive bladder cancer. PMID:33712636
Global discovery of lupus genetic risk variant allelic enhancer activity. PMID:33712590
Comparative analysis of 7 short-read sequencing platforms using the Korean Reference Genome: MGI and Illumina sequencing benchmark for whole-genome sequencing. PMID:33710328
A novel machine learning approach (svmSomatic) to distinguish somatic and germline mutations using next-generation sequencing data. PMID:33709636
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome. PMID:33691640
Genetic variation and microRNA targeting of A-to-I RNA editing fine tune human tissue transcriptomes. PMID:33685485
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
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome. PMID:33672345
Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives. PMID:33666867
Transcription-translation error: In-silico investigation of the structural and functional impact of deleterious single nucleotide polymorphisms in GULP1 gene. PMID:33665355
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families. PMID:33664247
In silico screening and analysis of nonsynonymous SNPs in human CYP1A2 to assess possible associations with pathogenicity and cancer susceptibility. PMID:33654112
A Bioinformatics Model of Human Diseases on the Basis of Differentially Expressed Genes (of Domestic Versus Wild Animals) That Are Orthologs of Human Genes Associated with Reproductive-Potential Changes. PMID:33652917
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. PMID:33639992
Biomedical articles share annotations with their citation neighbors. PMID:33637047
Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis. PMID:33630959
Predicting dynamic cellular protein-RNA interactions by deep learning using in vivo RNA structures. PMID:33623109
Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease. PMID:33619289
Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas. PMID:33617468
An in vitro vascularized micro-tumor model of human colorectal cancer recapitulates in vivo responses to standard-of-care therapy. PMID:33605955
Trans-ethnic meta-analysis identifies new loci associated with longitudinal blood pressure traits. PMID:33603002
Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB. PMID:33602974
Structural genetics of circulating variants affecting the SARS-CoV-2 spike/human ACE2 complex. PMID:33583326
The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability. PMID:33577674
Identification and analysis of RNA structural disruptions induced by single nucleotide variants using Riprap and RiboSNitchDB. PMID:33575608
Family-specific analysis of variant pathogenicity prediction tools. PMID:33575576
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. PMID:33573605
Describing variability in pig genes involved in coronavirus infections for a One Health perspective in conservation of animal genetic resources. PMID:33564056
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies. PMID:33562463
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening. PMID:33560568
A Transcription Regulatory Sequence in the 5' Untranslated Region of SARS-CoV-2 Is Vital for Virus Replication with an Altered Evolutionary Pattern against Human Inhibitory MicroRNAs. PMID:33557205
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III. PMID:33555556
Single nucleotide variants lead to dysregulation of the human mitochondrial NAD(P)+-dependent malic enzyme. PMID:33554057
Patient-derived organoids of bladder cancer recapitulate antigen expression profiles and serve as a personal evaluation model for CAR-T cells in vitro. PMID:33552510
Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment. PMID:33550905
Coupled mixed model for joint genetic analysis of complex disorders with two independently collected data sets. PMID:33546598
ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation. PMID:33543124
InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution. PMID:33543123
DeCompress: tissue compartment deconvolution of targeted mRNA expression panels using compressed sensing. PMID:33524140
IsomiR_Window: a system for analyzing small-RNA-seq data in an integrative and user-friendly manner. PMID:33522913
Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer. PMID:33507988
Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants. PMID:33502607
Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene. PMID:33501421
Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange. PMID:33500538
An improved assay for detection of theranostic gene translocations and MET exon 14 skipping in thoracic oncology. PMID:33495574
IsoMiRmap-fast, deterministic, and exhaustive mining of isomiRs from short RNA-seq datasets. PMID:33471076
Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms. PMID:33459343
Comparison of Beta-2 Adrenergic Receptor Gene Polymorphisms Between Patients with Fibromyalgia Syndrome and Healthy Controls. PMID:33458655
FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma. PMID:33456465
Classification and specific primer design for accurate detection of SARS-CoV-2 using deep learning. PMID:33441822
The variant call format provides efficient and robust storage of GWAS summary statistics. PMID:33441155
Pharmacogenetics of Direct Oral Anticoagulants: A Systematic Review. PMID:33440670
Polygenic Risk and the Course of Attention-Deficit/Hyperactivity Disorder From Childhood to Young Adulthood: Findings From a Nationally Representative Cohort. PMID:33440202
DALIA- a comprehensive resource of Disease Alleles in Arab population. PMID:33439861
Human whole genome sequencing in South Africa. PMID:33436733
Refractory alveolar rhabdomyosarcoma in an 11-year-old male. PMID:33436392
Variants in PPP2R2B and IGF2BP3 are associated with higher tau deposition. PMID:33426524
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing. PMID:33424349
Comprehensive characterisation of intronic mis-splicing mutations in human cancers. PMID:33420369
Whole exome sequencing and establishment of an organoid culture of the carcinoma showing thymus-like differentiation (CASTLE) of the parotid gland. PMID:33415446
Accurate, scalable cohort variant calls using DeepVariant and GLnexus. PMID:33399819
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies. PMID:33395407
Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas. PMID:33391357
NGS-PrimerPlex: High-throughput primer design for multiplex polymerase chain reactions. PMID:33378360
Semi-supervised learning for somatic variant calling and peptide identification in personalized cancer immunotherapy. PMID:33375939
Breast Cancer Organoids Model Patient-Specific Response to Drug Treatment. PMID:33371412
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study. PMID:33362715
Essential interpretations of bioinformatics in COVID-19 pandemic. PMID:33349792
The impact of structural bioinformatics tools and resources on SARS-CoV-2 research and therapeutic strategies. PMID:33348379
RBM-MHC: A Semi-Supervised Machine-Learning Method for Sample-Specific Prediction of Antigen Presentation by HLA-I Alleles. PMID:33338400
Exercise during pregnancy mitigates negative effects of parental obesity on metabolic function in adult mouse offspring. PMID:33332990
Convergent network effects along the axis of gene expression during prostate cancer progression. PMID:33317623
GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations. PMID:33312764
The impact of post-alignment processing procedures on whole-exome sequencing data. PMID:33306778
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype. PMID:33301229
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits. PMID:33300029
Msuite: A High-Performance and Versatile DNA Methylation Data-Analysis Toolkit. PMID:33294868
Quantifying the influence of mutation detection on tumour subclonal reconstruction. PMID:33288765
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses. PMID:33287903
Common germline-somatic variant interactions in advanced urothelial cancer. PMID:33273457
Flype: Software for enabling personalized medicine. PMID:33270363
Genetic variability in sodium-glucose cotransporter 2 influences glycemic control and risk for diabetic retinopathy in type 2 diabetes patients. PMID:33269015
Finding a suitable library size to call variants in RNA-Seq. PMID:33261552
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region. PMID:33257509
What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis? PMID:33256133
BarleyVarDB: a database of barley genomic variation. PMID:33247932
Accessing NCBI data using the NCBI Sequence Viewer and Genome Data Viewer (GDV). PMID:33239395
Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population. PMID:33237934
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline. PMID:33233726
Identification of Recurrent Mutations in the microRNA-Binding Sites of B-Cell Lymphoma-Associated Genes in Follicular Lymphoma. PMID:33233721
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants. PMID:33230308
The UCSC Genome Browser database: 2021 update. PMID:33221922
Impact of the generation of EGFR-TKIs administered as prior therapy on the efficacy of osimertinib in patients with non-small cell lung cancer harboring EGFR T790M mutation. PMID:33219754
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. PMID:33219223
Mediation by differential DNA methylation of known associations between single nucleotide polymorphisms and bladder cancer risk. PMID:33213418
In Silico Identification of SOX1 Post-Translational Modifications Highlights a Shared Protein Motif. PMID:33202879
Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance. PMID:33193618
MaizeMine: A Data Mining Warehouse for the Maize Genetics and Genomics Database. PMID:33193550
Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease. PMID:33193015
Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura. PMID:33184803
A human cell atlas of fetal chromatin accessibility. PMID:33184180
WGVD: an integrated web-database for wheat genome variation and selective signatures. PMID:33181826
Molecular docking simulation reveals ACE2 polymorphisms that may increase the affinity of ACE2 with the SARS-CoV-2 Spike protein. PMID:33181224
Clinical and Genomic Characteristics of Adult Diffuse Midline Glioma. PMID:33171023
Genome Variation Map: a worldwide collection of genome variations across multiple species. PMID:33170268
Association of Alzheimer's disease risk variants on the PICALM gene with PICALM expression, core biomarkers, and feature neurodegeneration. PMID:33170153
Comparative assessments of indel annotations in healthy and cancer genomes with next-generation sequencing data. PMID:33167946
MobiDetails: online DNA variants interpretation. PMID:33161418
Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data. PMID:33154511
Base Editing in Human Cells to Produce Single-Nucleotide-Variant Clonal Cell Lines. PMID:33151638
Common schizophrenia risk variants are enriched in open chromatin regions of human glutamatergic neurons. PMID:33149216
Ensembl 2021. PMID:33137190
Genome-wide mutational signatures revealed distinct developmental paths for human B cell lymphomas. PMID:33136155
ATACdb: a comprehensive human chromatin accessibility database. PMID:33125076
The MemMoRF database for recognizing disordered protein regions interacting with cellular membranes. PMID:33119751
High-depth African genomes inform human migration and health. PMID:33116287
LncRBase V.2: an updated resource for multispecies lncRNAs and ClinicLSNP hosting genetic variants in lncRNAs for cancer patients. PMID:33112702
Homology-guided identification of a conserved motif linking the antiviral functions of IFITM3 to its oligomeric state. PMID:33112230
Multicenter Comparison of Molecular Tumor Boards in The Netherlands: Definition, Composition, Methods, and Targeted Therapy Recommendations. PMID:33111480
External apical root resorption in orthodontic patients: molecular and genetic basis. PMID:33110782
Best practices for variant calling in clinical sequencing. PMID:33106175
REDIportal: millions of novel A-to-I RNA editing events from thousands of RNAseq experiments. PMID:33104797
SCAR: The high-prevalence antigen 013.008 in the Scianna blood group system. PMID:33098316
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. PMID:33096615
IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes. PMID:33095885
VARAdb: a comprehensive variation annotation database for human. PMID:33095866
Activation-induced cytidine deaminase localizes to G-quadruplex motifs at mutation hotspots in lymphoma. PMID:33094287
Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders. PMID:33092544
Disruptive natural selection by male reproductive potential prevents underexpression of protein-coding genes on the human Y chromosome as a self-domestication syndrome. PMID:33092533
Extracellular microRNA 3' end modification across diverse body fluids. PMID:33092484
Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes. PMID:33087732
Reference exome data for a Northern Brazilian population. PMID:33087711
Studying Immunotherapy Resistance in a Melanoma Autologous Humanized Mouse Xenograft. PMID:33087417
The FAM171A2 gene is a key regulator of progranulin expression and modifies the risk of multiple neurodegenerative diseases. PMID:33087363
The prevalent I686T human variant and loss-of-function mutations in the cardiomyocyte-specific kinase gene TNNI3K cause adverse contractility and concentric remodeling in mice. PMID:33084860
Effects of Single-Nucleotide Polymorphisms in Calmodulin-Dependent Protein Kinase Kinase 2 (CAMKK2): A Comprehensive Study. PMID:33082841
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon. PMID:33078831
Base editing: advances and therapeutic opportunities. PMID:33077937
Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter. PMID:33066695
Global RNA editome landscape discovers reduced RNA editing in glioma: loss of editing of gamma-amino butyric acid receptor alpha subunit 3 (GABRA3) favors glioma migration and invasion. PMID:33062411
Next-generation sequencing of 35 RHD variants in 16 253 serologically D- pregnant women in the Finnish population. PMID:33057632
PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS. PMID:33051675
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. PMID:33046911
Sensitive alignment using paralogous sequence variants improves long-read mapping and variant calling in segmental duplications. PMID:33035301
RMVar: an updated database of functional variants involved in RNA modifications. PMID:33021671
lncRNAKB, a knowledgebase of tissue-specific functional annotation and trait association of long noncoding RNA. PMID:33020484
Target Enrichment Enables the Discovery of lncRNAs with Somatic Mutations or Altered Expression in Paraffin-Embedded Colorectal Cancer Samples. PMID:33019720
A survey on deep learning in DNA/RNA motif mining. PMID:33005921
miRNASNP-v3: a comprehensive database for SNPs and disease-related variations in miRNAs and miRNA targets. PMID:32990748
Single Nucleotide Polymorphism in KIR2DL1 Is Associated With HLA-C Expression in Global Populations. PMID:32983108
Reference-free deconvolution, visualization and interpretation of complex DNA methylation data using DecompPipeline, MeDeCom and FactorViz. PMID:32978601
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. PMID:32973342
Association between genetic and socioenvironmental risk for schizophrenia during upbringing in a UK longitudinal cohort. PMID:32972469
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas. PMID:32971818
Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing. PMID:32962098
Machine learning demonstrates that somatic mutations imprint invariant morphologic features in myelodysplastic syndromes. PMID:32961553
An integrated personal and population-based Egyptian genome reference. PMID:32948767
Genetic variants beyond amyloid and tau associated with cognitive decline: A cohort study. PMID:32938779
Potential impact on coagulopathy of gene variants of coagulation related proteins that interact with SARS-CoV-2. PMID:32935103
The Landscape of Micro-Inversions Provide Clues for Population Genetic Analysis of Humans. PMID:32929667
The mutational landscape of the SCAN-B real-world primary breast cancer transcriptome. PMID:32926574
Genome-wide detection of signatures of selection in indicine and Brazilian locally adapted taurine cattle breeds using whole-genome re-sequencing data. PMID:32917133
Interaction of Neighborhood and Genetic Risk on Waist Circumference in African-American Adults: A Longitudinal Study. PMID:32914830
Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience. PMID:32913998
A gene prioritization method based on a swine multi-omics knowledgebase and a deep learning model. PMID:32913254
Optimizing the genetic prediction of the eye and hair color for North Eurasian populations. PMID:32912208
MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals. PMID:32911083
PCOSKBR2: a database of genes, diseases, pathways, and networks associated with polycystic ovary syndrome. PMID:32895427
Non-Coding RNA Databases in Cardiovascular Research. PMID:32887511
Accurate quantification of copy-number aberrations and whole-genome duplications in multi-sample tumor sequencing data. PMID:32879317
Evolutionary and Functional Analysis of Korean Native Pig Using Single Nucleotide Polymorphisms. PMID:32868490
Predicting the most deleterious missense nsSNPs of the protein isoforms of the human HLA-G gene and in silico evaluation of their structural and functional consequences. PMID:32867672
Integrated analysis of whole genome and transcriptome sequencing in a young patient with gastric cancer provides insights for precision therapy. PMID:32863928
Genome-Wide Detection of Selection Signatures in Duroc Revealed Candidate Genes Relating to Growth and Meat Quality. PMID:32859686
Bioinformatics Analysis Revealed Novel 3'UTR Variants Associated with Intellectual Disability. PMID:32858868
Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus. PMID:32855706
A second X chromosome contributes to resilience in a mouse model of Alzheimer's disease. PMID:32848093
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate. PMID:32839463
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery. PMID:32827758
Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates. PMID:32826334
How Do Molecular Dynamics Data Complement Static Structural Data of GPCRs. PMID:32824756
Therapy-Induced Evolution of Human Lung Cancer Revealed by Single-Cell RNA Sequencing. PMID:32822576
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. PMID:32822427
PINCER: improved CRISPR/Cas9 screening by efficient cleavage at conserved residues. PMID:32821942
m6A-Atlas: a comprehensive knowledgebase for unraveling the N6-methyladenosine (m6A) epitranscriptome. PMID:32821938
DNA polymerase stalling at structured DNA constrains the expansion of short tandem repeats. PMID:32819438
Features of increased malignancy in eosinophilic clear cell renal cell carcinoma. PMID:32815150
SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants. PMID:32813752
Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia. PMID:32811132
Identification of Undetected Monogenic Cardiovascular Disorders. PMID:32792077
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. PMID:32790018
Genomic Analysis of Localized High-Risk Prostate Cancer Circulating Tumor Cells at the Single-Cell Level. PMID:32784507
Recent advances of automated methods for searching and extracting genomic variant information from biomedical literature. PMID:32770181
Korean Genome Project: 1094 Korean personal genomes with clinical information. PMID:32766443
Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population. PMID:32765897
Host Genetic and Gut Microbial Signatures in Familial Inflammatory Bowel Disease. PMID:32764209
Synthetic community with six Pseudomonas strains screened from garlic rhizosphere microbiome promotes plant growth. PMID:32762153
Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects. PMID:32760237
Whole Genome Sequencing of Four Representatives From the Admixed Population of the United Arab Emirates. PMID:32754195
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report. PMID:32746785
Mutation accumulation and developmental lineages in normal and Down syndrome human fetal haematopoiesis. PMID:32737409
MicroRNA and protein-coding gene expression analysis in idiopathic pulmonary fibrosis yields novel biomarker signatures associated to survival. PMID:32711186
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach. PMID:32704157
MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature. PMID:32703994
Human Hepatitis B Viral Infection Outcomes Are Linked to Naturally Occurring Variants of HLA-DOA That Have Altered Function. PMID:32690655
Using l-Carnitine as a Pharmacologic Probe of the Interpatient and Metabolic Variability of Sepsis. PMID:32688453
DNA damage and growth hormone hypersecretion in pituitary somatotroph adenomas. PMID:32673291
A pooled genome-wide association study identifies pancreatic cancer susceptibility loci on chromosome 19p12 and 19p13.3 in the full-Jewish population. PMID:32671597
Bioinformatics approaches for deciphering the epitranscriptome: Recent progress and emerging topics. PMID:32670500
Natural Selection on Exonic SNPs Shapes Allelic Expression Imbalance (AEI) Adaptability in Lung Cancer Progression. PMID:32670357
Fine-mapping within eQTL credible intervals by expression CROP-seq. PMID:32665975
Identifying tumor clones in sparse single-cell mutation data. PMID:32657385
Quantitative characterization of tumor cell-free DNA shortening. PMID:32650715
Strategies for whole-exome sequencing analysis in a case series study of familial male infertility. PMID:32637866
Detecting pathogenic variants in autoimmune diseases using high-throughput sequencing. PMID:32623783
TBL1XR1 Mutations Drive Extranodal Lymphoma by Inducing a Pro-tumorigenic Memory Fate. PMID:32619424
Differences in the frequency of genetic variants associated with iron imbalance among global populations. PMID:32609760
Metallothionein 2A gene polymorphisms in relation to diseases and trace element levels in humans. PMID:32597135
Suppression of adenosine-to-inosine (A-to-I) RNA editome by death associated protein 3 (DAP3) promotes cancer progression. PMID:32596459
Building a PubMed knowledge graph. PMID:32591513
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
Pervasive Selection against MicroRNA Target Sites in Human Populations. PMID:32585012
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
Array-Based Epigenetic Aging Indices May Be Racially Biased. PMID:32580526
The genetic risk for hypertension is lower among the Hungarian Roma population compared to the general population. PMID:32555714
Study of genetic correlation between children's sleep and obesity. PMID:32555314
Molecular simulation of SARS-CoV-2 spike protein binding to pangolin ACE2 or human ACE2 natural variants reveals altered susceptibility to infection. PMID:32538738
Proteogenomic Characterization of Ovarian HGSC Implicates Mitotic Kinases, Replication Stress in Observed Chromosomal Instability. PMID:32529193
IL-1B rs2853550 polymorphism contributes to esophageal cancer susceptibility in Chinese Han population of Northwest China. PMID:32527212
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes. PMID:32513296
IRESbase: A Comprehensive Database of Experimentally Validated Internal Ribosome Entry Sites. PMID:32512182
Broad Host Range of SARS-CoV-2 Predicted by Comparative and Structural Analysis of ACE2 in Vertebrates. PMID:32511356
Clinical Significance of Hotspot Mutation Analysis of Urinary Cell-Free DNA in Urothelial Bladder Cancer. PMID:32509577
In silico analysis on the functional and structural impact of Rad50 mutations involved in DNA strand break repair. PMID:32509463
MetaPhat: Detecting and Decomposing Multivariate Associations From Univariate Genome-Wide Association Statistics. PMID:32499813
Insights into variation in meiosis from 31,228 human sperm genomes. PMID:32494014
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
DAMEfinder: a method to detect differential allele-specific methylation. PMID:32487212
SCDb: an integrated database of stomach cancer. PMID:32487193
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer. PMID:32467344
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate. PMID:32460883
Molecular patterns in salivary duct carcinoma identify prognostic subgroups. PMID:32457410
TraPS-VarI: Identifying genetic variants altering phosphotyrosine based signalling motifs. PMID:32439998
Serotonin re-uptake transporter gene polymorphisms are associated with imatinib-induced diarrhoea in chronic myeloid leukaemia patients. PMID:32439979
Genome-Wide Association Meta-Analysis of Single-Nucleotide Polymorphisms and Symptomatic Venous Thromboembolism during Therapy for Acute Lymphoblastic Leukemia and Lymphoma in Caucasian Children. PMID:32438682
SCOPE: A Normalization and Copy-Number Estimation Method for Single-Cell DNA Sequencing. PMID:32437686
Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing. PMID:32429412
SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples. PMID:32428603
The mutational impact of culturing human pluripotent and adult stem cells. PMID:32427826
Haplotype-Based Genome-Wide Association Study and Identification of Candidate Genes Associated with Carcass Traits in Hanwoo Cattle. PMID:32423003
High Levels of Chromosomal Copy Number Alterations and TP53 Mutations Correlate with Poor Outcome in Younger Breast Cancer Patients. PMID:32416097
AnnoLnc2: the one-stop portal to systematically annotate novel lncRNAs for human and mouse. PMID:32406920
Genetic Variation Near chrXq22-q23 Is Linked to Emotional Functioning in Cystic Fibrosis. PMID:32390518
Characterization of long G4-rich enhancer-associated genomic regions engaging in a novel loop:loop 'G4 Kissing' interaction. PMID:32383760
Predictive value of tumor genetic alteration profiling for chemotherapy and EGFR-TKI treatment in advanced NSCLC. PMID:32382334
Single nucleotide polymorphisms affect RNA-protein interactions at a distance through modulation of RNA secondary structures. PMID:32379750
Construction of an integrated human osteosarcoma database, HOsDb, based on literature mining, microarray analysis, and database retrieval. PMID:32375685
Pitfalls in Single Clone CRISPR-Cas9 Mutagenesis to Fine-map Regulatory Intervals. PMID:32375333
MACSNVdb: a high-quality SNV database for interspecies genetic divergence investigation among macaques. PMID:32367112
Mucinous carcinoma with micropapillary features is morphologically, clinically and genetically distinct from pure mucinous carcinoma of breast. PMID:32358590
Ubiquitin stimulated reversal of topoisomerase 2 DNA-protein crosslinks by TDP2. PMID:32356875
Reference exome data for Australian Aboriginal populations to support health-based research. PMID:32350262
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases. PMID:32330418
Detection of Allosteric Effects of lncRNA Secondary Structures Altered by SNPs in Human Diseases. PMID:32322582
Morphologic and genetic heterogeneity in breast fibroepithelial lesions-a comprehensive mapping study. PMID:32322022
A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells. PMID:32321919
Effect for Human Genomic Variation During the BMP4-Induced Conversion From Pluripotent Stem Cells to Trophoblast. PMID:32318089
Exploiting evolutionary steering to induce collateral drug sensitivity in cancer. PMID:32317663
Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function. PMID:32316137
Prognostic significance of an invasive leader cell-derived mutation cluster on chromosome 16q. PMID:32315457
A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin. PMID:32307928
Assessing breed integrity of Göttingen Minipigs. PMID:32299342
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia. PMID:32296054
Recent advances in understanding the genetics of sleep. PMID:32274013
Phenogenon: Gene to phenotype associations for rare genetic diseases. PMID:32271766
Mucosal Microbiome Profiles Polygenic Irritable Bowel Syndrome in Mestizo Individuals. PMID:32266159
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report. PMID:32256517
Laniakea: an open solution to provide Galaxy "on-demand" instances over heterogeneous cloud infrastructures. PMID:32252069
Genomic Analysis of Circulating Tumor Cells at the Single-Cell Level. PMID:32247862
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing. PMID:32244554
Genome-Wide Analysis of MicroRNA-related Single Nucleotide Polymorphisms (SNPs) in Mouse Genome. PMID:32238847
In Silico Prediction of the Effects of Nonsynonymous Single Nucleotide Polymorphisms in the Human Catechol-O-Methyltransferase (COMT) Gene. PMID:32236879
Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations. PMID:32233832
dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions. PMID:32227657
Comprehensive Genomic Analysis of Translocation Renal Cell Carcinoma Reveals Copy-Number Variations as Drivers of Disease Progression. PMID:32220885
A polygenic score for age-at-first-birth predicts disinhibition. PMID:32220142
Exploring the Consistency of the Quality Scores with Machine Learning for Next-Generation Sequencing Experiments. PMID:32219145
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families. PMID:32209057
Comprehensive Computational Analysis of Protein Phenotype Changes Due to Plausible Deleterious Variants of Human SPTLC1 Gene. PMID:32195206
Insights into human genetic variation and population history from 929 diverse genomes. PMID:32193295
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics. PMID:32185475
Variant effect predictions capture some aspects of deep mutational scanning experiments. PMID:32183714
Pseudoexons of the DMD Gene. PMID:32176650
Multi-Omics Analysis Reveals MicroRNAs Associated With Cardiometabolic Traits. PMID:32174972
Mapping of the chicken cleft primary palate mutation on chromosome 11 and sequencing of the 4.9 Mb linked region. PMID:32162363
A decision tree to improve identification of pathogenic mutations in clinical practice. PMID:32151256
In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract. PMID:32143568
Development of genetic quality tests for good manufacturing practice-compliant induced pluripotent stem cells and their derivatives. PMID:32127560
Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons. PMID:32126975
Integrative analysis of the genomic and transcriptomic landscape of double-refractory multiple myeloma. PMID:32126144
Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening. PMID:32123222
Association between the APOA2 rs3813627 Single Nucleotide Polymorphism and HDL and APOA1 Levels Through BMI. PMID:32120838
Genomic Identification of RNA Editing Through Integrating Omics Datasets and the Clinical Relevance in Hepatocellular Carcinoma. PMID:32117713
Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants. PMID:32107424
Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates. PMID:32106815
Adopting solutions for annotation and reporting of next generation sequencing in clinical practice. PMID:32099889
Direct-to-Consumer Nutrigenetics Testing: An Overview. PMID:32098227
Discovering weaker genetic associations guided by known associations. PMID:32093702
Familial analysis reveals rare risk variants for migraine in regulatory regions. PMID:32076896
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
Pan-genomics in the human genome era. PMID:32034321
Candidate SNP Markers of Atherogenesis Significantly Shifting the Affinity of TATA-Binding Protein for Human Gene Promoters show stabilizing Natural Selection as a Sum of Neutral Drift Accelerating Atherogenesis and Directional Natural Selection Slowing It. PMID:32033288
AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting. PMID:32019565
Variation benchmark datasets: update, criteria, quality and applications. PMID:32016318
Preclinical evaluation of an affinity-enhanced MAGE-A4-specific T-cell receptor for adoptive T-cell therapy. PMID:32002290
A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation. PMID:31996765
Bivartect: accurate and memory-saving breakpoint detection by direct read comparison. PMID:31985791
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers. PMID:31968687
Targeted molecular profiling of genetic alterations in colorectal cancer using next-generation sequencing. PMID:31966042
Polymorphisms in dipeptidyl peptidase 4 reduce host cell entry of Middle East respiratory syndrome coronavirus. PMID:31964246
Dating genomic variants and shared ancestry in population-scale sequencing data. PMID:31951611
ChIPSummitDB: a ChIP-seq-based database of human transcription factor binding sites and the topological arrangements of the proteins bound to them. PMID:31942977
In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract. PMID:31935276
A Rat Model of Human Behavior Provides Evidence of Natural Selection Against Underexpression of Aggressiveness-Related Genes in Humans. PMID:31921305
Heritability estimates for 361 blood metabolites across 40 genome-wide association studies. PMID:31911595
Rad51 paralogs and the risk of unselected breast cancer: A case-control study. PMID:31905201
Comparative and Functional Genomic Resource for Mechanistic Studies of Human Blood Pressure-Associated Single Nucleotide Polymorphisms. PMID:31902252
Neurobiology of BDNF in fear memory, sensitivity to stress, and stress-related disorders. PMID:31900428
In vivo functional analysis of non-conserved human lncRNAs associated with cardiometabolic traits. PMID:31896749
Genetic Polymorphisms in IL-10 Promoter Are Associated With Smoking and Prostate Cancer Risk in African Americans. PMID:31892550
Genome analysis and knowledge-driven variant interpretation with TGex. PMID:31888639
High degree of polyclonality hinders somatic mutation calling in lung brush samples of COPD cases and controls. PMID:31882973
ADAR1 function affects HPV replication and is associated to recurrent human papillomavirus-induced dysplasia in HIV coinfected individuals. PMID:31882741
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. PMID:31876103
The somatic mutation landscape of the human body. PMID:31874648
Genetic interactions between INPP4B and RAD50 is prognostic of breast cancer survival. PMID:31872854
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. PMID:31866047
MethylToSNP: identifying SNPs in Illumina DNA methylation array data. PMID:31861999
Structural diversity in the atomic resolution 3D fingerprint of the titin M-band segment. PMID:31856237
Targeted sequencing of the LRRTM gene family in suicide attempters with bipolar disorder. PMID:31854516
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases. PMID:31853824
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). PMID:31852952
Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins. PMID:31850058
Effects of Single Nucleotide Polymorphisms in Human KCNMA1 on BK Current Properties. PMID:31849601
Neuroimaging genetics studies of specific reading disability and developmental language disorder: A review. PMID:31844423
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms. PMID:31836783
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease. PMID:31824610
Characterization of novel genetic alterations in salivary gland secretory carcinoma. PMID:31822803
A Molecular Epidemiological Analysis Of Programmed Cell Death Ligand-1 (PD-L1) Protein Expression, Mutations And Survival In Non-Small Cell Lung Cancer. PMID:31819612
Association of polymorphism in heat shock protein 70 genes with type 2 diabetes in Bangladeshi population. PMID:31816668
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing. PMID:31811167
BEST: a web server for brain expression Spatio-temporal pattern analysis. PMID:31805847
The GenomeAsia 100K Project enables genetic discoveries across Asia. PMID:31802016
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism. PMID:31799629
Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas. PMID:31798960
miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes. PMID:31798637
PGxMine: Text mining for curation of PharmGKB. PMID:31797632
Text-mining clinically relevant cancer biomarkers for curation into the CIViC database. PMID:31796060
Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma. PMID:31795494
Genetics of cognitive trajectory in Brazilians: 15 years of follow-up from the Bambuí-Epigen Cohort Study of Aging. PMID:31792241
Identification and analysis of pathogenic nsSNPs in human LSP1 gene. PMID:31787810
The functional roles of IGF-1 variants in the susceptibility and clinical outcomes of mild traumatic brain injury. PMID:31787098
Effects of Polymorphisms in Myc-Related Genes on Bleeding Complications in Patients with Stable Warfarin Responses. PMID:31772606
Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes. PMID:31772163
Systematic exploration of predicted destabilizing nonsynonymous single nucleotide polymorphisms (nsSNPs) of human aldehyde oxidase: A Bio-informatics study. PMID:31768259
Recovery in the Myogenic Program of Congenital Myotonic Dystrophy Myoblasts after Excision of the Expanded (CTG)n Repeat. PMID:31766224
A super enhancer controls expression and chromatin architecture within the MHC class II locus. PMID:31753848
SPDI: data model for variants and applications at NCBI. PMID:31738401
DIANA-LncBase v3: indexing experimentally supported miRNA targets on non-coding transcripts. PMID:31732741
Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark. PMID:31729605
Structural variation in the sequencing era. PMID:31729472
The neXtProt knowledgebase in 2020: data, tools and usability improvements. PMID:31724716
Dysregulation of different classes of tRNA fragments in chronic lymphocytic leukemia. PMID:31723042
Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial. PMID:31721892
Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study. PMID:31712709
Prediction of Deleterious Non-synonymous SNPs of Human STK11 Gene by Combining Algorithms, Molecular Docking, and Molecular Dynamics Simulation. PMID:31712642
Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APC. PMID:31712236
Comorbidity of asthma and hypertension may be mediated by shared genetic dysregulation and drug side effects. PMID:31705029
Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants. PMID:31702543
Database Resources of the National Genomics Data Center in 2020. PMID:31702008
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension. PMID:31700171
The AKR1D1*36 (rs1872930) Allelic Variant Is Independently Associated With Clopidogrel Treatment Outcome. PMID:31695473
Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance. PMID:31695094
Genetic Interactions Affect Lung Function in Patients with Systemic Sclerosis. PMID:31694854
Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning. PMID:31693276
Ensembl 2020. PMID:31691826
DrLLPS: a data resource of liquid-liquid phase separation in eukaryotes. PMID:31691822
Mechanism of Action of Non-Synonymous Single Nucleotide Variations Associated with α-Carbonic Anhydrase II Deficiency. PMID:31690045
Germline mutations in cancer-predisposition genes in patients with biliary tract cancer. PMID:31666926
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study. PMID:31664177
Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy. PMID:31660073
Using DNA From Mothers and Children to Study Parental Investment in Children's Educational Attainment. PMID:31657015
Genome-wide microhomologies enable precise template-free editing of biologically relevant deletion mutations. PMID:31649251
Causal relationships between obesity and the leading causes of death in women and men. PMID:31647808
Breakpoint junction features of seven DMD deletion mutations. PMID:31645977
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans. PMID:31642496
PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation. PMID:31642469
NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants. PMID:31640730
Architecture of population-differentiated polymorphisms in the human genome. PMID:31622447
HaTSPiL: A modular pipeline for high-throughput sequencing data analysis. PMID:31613890
GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies. PMID:31612961
PhaSePro: the database of proteins driving liquid-liquid phase separation. PMID:31612960
Single nucleotide polymorphisms in piRNA-pathway genes: an insight into genetic determinants of human diseases. PMID:31612310
Population Structure and Implications on the Genetic Architecture of HIV-1 Phenotypes Within Southern Africa. PMID:31611910
PopTargs: a database for studying population evolutionary genetics of human microRNA target sites. PMID:31608947
Introducing the first whole genomes of nationals from the United Arab Emirates. PMID:31604968
Clinical and Genetic Contributors to New-Onset Atrial Fibrillation in Critically Ill Adults. PMID:31599812
QTLbase: an integrative resource for quantitative trait loci across multiple human molecular phenotypes. PMID:31598699
Functional rare variants influence the clinical response to anti-TNF therapy in Crohn's disease. PMID:31598133
Bayesian multivariate reanalysis of large genetic studies identifies many new associations. PMID:31596850
Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder. PMID:31595719
RNAIndel: discovering somatic coding indels from tumor RNA-Seq data. PMID:31593214
Animal-ImputeDB: a comprehensive database with multiple animal reference panels for genotype imputation. PMID:31584087
Transcriptome association studies of neuropsychiatric traits in African Americans implicate PRMT7 in schizophrenia. PMID:31579629
Genetic interactions between ANLN and KDR are prognostic for breast cancer survival. PMID:31578580
Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms. PMID:31578463
Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing. PMID:31575382
Risk assessment of FLT3 and PAX5 variants in B-acute lymphoblastic leukemia: a case-control study in a Pakistani cohort. PMID:31565544
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. PMID:31555317
Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients. PMID:31547110
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients. PMID:31544778
DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load. PMID:31537801
Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs. PMID:31533369
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy. PMID:31524317
A Novel c.973G>T Mutation in the ε-subunit of the Acetylcholine Receptor Causing Congenital Myasthenic Syndrome in an Iranian Family. PMID:31523627
Differential Dynamics Underlying the Gln27Glu Population Variant of the β2-Adrenergic Receptor. PMID:31520159
Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information. PMID:31519967
Gene expression profiling of single cells from archival tissue with laser-capture microdissection and Smart-3SEQ. PMID:31519740
Genetic heterogeneity within collective invasion packs drives leader and follower cell phenotypes. PMID:31515279
SNV identification from single-cell RNA sequencing data. PMID:31504520
Allele-Specific Transcript Abundance: A Pilot Study in Healthy Centenarians. PMID:31504207
Assessment of kinship detection using RNA-seq data. PMID:31501877
ABCD: Alzheimer's disease Biomarkers Comprehensive Database. PMID:31501752
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. PMID:31500643
VARIDT 1.0: variability of drug transporter database. PMID:31495872
SliceIt: A genome-wide resource and visualization tool to design CRISPR/Cas9 screens for editing protein-RNA interaction sites in the human genome. PMID:31494246
µ-Opioid Activity in Chronic TMD Pain Is Associated with COMT Polymorphism. PMID:31490699
Exome sequencing of Saudi Arabian patients with ADPKD. PMID:31488014
Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma. PMID:31483290
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. PMID:31475037
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature. PMID:31467448
Mutations in exon 8 of TP53 are associated with shorter survival in patients with advanced lung cancer. PMID:31452792
Molecular mutation characteristics of mismatch and homologous recombination repair genes in gastrointestinal cancer. PMID:31452757
A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy. PMID:31452356
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients. PMID:31447884
Copper-mediated thiol potentiation and mutagenesis-guided modeling suggest a highly conserved copper-binding motif in human OR2M3. PMID:31435697
Identification of Recurrent Activating HER2 Mutations in Primary Canine Pulmonary Adenocarcinoma. PMID:31431454
Influence of BRCA1 Germline Mutations in the Somatic Mutational Burden of Triple-Negative Breast Cancer. PMID:31419696
Mutations in topoisomerase IIβ result in a B cell immunodeficiency. PMID:31409799
The effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: A PET imaging study. PMID:31386983
Co-segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease. PMID:31384335
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. PMID:31375807
Predicting the effects of SNPs on transcription factor binding affinity. PMID:31373606
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. PMID:31370276
Night-shift work, circadian and melatonin pathway related genes and their interaction on breast cancer risk: evidence from a case-control study in Korean women. PMID:31358835
The IDO Metabolic Trap Hypothesis for the Etiology of ME/CFS. PMID:31357483
The histone methyltransferase Setd2 is indispensable for V(D)J recombination. PMID:31350389
Systematic analysis of the intersection of disease mutations with protein modifications. PMID:31345222
Before and After: Comparison of Legacy and Harmonized TCGA Genomic Data Commons' Data. PMID:31344359
An effective biomedical data migration tool from resource description framework to JSON. PMID:31343683
Optic nerve hypoplasia in miniature poodle dogs: A preliminary genetic and candidate gene association study. PMID:31342635
Genetic mapping in Diversity Outbred mice identifies a Trpa1 variant influencing late-phase formalin response. PMID:31335644
Estimating dispensable content in the human interactome. PMID:31324802
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
Influence of single nucleotide polymorphisms (SNPs) in genetic susceptibility towards periprosthetic osteolysis. PMID:31313107
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease. PMID:31308240
Relation between DNA ionization potentials, single base substitutions and pathogenic variants. PMID:31307386
Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses. PMID:31304847
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. PMID:31298765
Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives. PMID:31293624
Whole-Exome Sequencing of Nasopharyngeal Carcinoma Families Reveals Novel Variants Potentially Involved in Nasopharyngeal Carcinoma. PMID:31289279
Computational framework for targeted high-coverage sequencing based NIPT. PMID:31283802
Assessing predictions on fitness effects of missense variants in calmodulin. PMID:31283071
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public. PMID:31280677
NBN Gene Analysis and it's Impact on Breast Cancer. PMID:31278556
Recurrent DMD Deletions Highlight Specific Role of Dp71 Isoform in Soft-Tissue Sarcomas. PMID:31266185
Biosynthetic homeostasis and resilience of the complement system in health and infectious disease. PMID:31262714
Somatic molecular analysis augments cytologic evaluation of pancreatic cyst fluids as a diagnostic tool. PMID:31258847
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants. PMID:31257730
In silico analysis of missense mutations in exons 1-5 of the F9 gene that cause hemophilia B. PMID:31253089
Bioinformatic Methods and Bridging of Assay Results for Reliable Tumor Mutational Burden Assessment in Non-Small-Cell Lung Cancer. PMID:31250328
Structural Analysis and Conformational Dynamics of STN1 Gene Mutations Involved in Coat Plus Syndrome. PMID:31245382
BANK1 interacts with TRAF6 and MyD88 in innate immune signaling in B cells. PMID:31243359
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome. PMID:31240104
PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations. PMID:31233103
Highly multiplexed AmpliSeq technology identifies novel variation of flowering time-related genes in soybean (Glycine max). PMID:31231761
Global, pathway and gene coverage of three Illumina arrays with respect to inflammatory and immune-related pathways. PMID:31227809
Efficient identification of neoantigen-specific T-cell responses in advanced human ovarian cancer. PMID:31221207
iCn3D, a web-based 3D viewer for sharing 1D/2D/3D representations of biomolecular structures. PMID:31218344
Unveiling the Diversity of Immunoglobulin Heavy Constant Gamma (IGHG) Gene Segments in Brazilian Populations Reveals 28 Novel Alleles and Evidence of Gene Conversion and Natural Selection. PMID:31214166
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches. PMID:31212687
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection. PMID:31211624
Probabilistic modeling of personalized drug combinations from integrated chemical screen and molecular data in sarcoma. PMID:31208434
Analysis of allele-specific expression using RNA-seq of the Korean native pig and Landrace reciprocal cross. PMID:31208168
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel. PMID:31207142
Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis. PMID:31204176
Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease. PMID:31191612
Genetic variations in the transcription factors GATA4 and GATA6 and bleeding complications in patients receiving warfarin therapy. PMID:31190750
Validity of an NGS-based multiple gene panel in identifying actionable mutations for patients with NSCLC in a Chinese hospital. PMID:31186761
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins. PMID:31186485
N-Glycan-calnexin interactions in human factor VII secretion and deficiency. PMID:31185295
Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing? PMID:31179125
Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum. PMID:31178899
Total copy number variation as a prognostic factor in adult astrocytoma subtypes. PMID:31177992
Boolean gene regulatory network model of centromere function in Saccharomyces cerevisiae. PMID:31175490
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss. PMID:31175426
Regional Heterogeneity in Gene Expression, Regulation, and Coherence in the Frontal Cortex and Hippocampus across Development and Schizophrenia. PMID:31174959
MTR-Viewer: identifying regions within genes under purifying selection. PMID:31170280
RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways. PMID:31162550
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects. PMID:31161195
Coevolution of Residues Provides Evidence of a Functional Heterodimer of 5-HT2AR and 5-HT2CR Involving Both Intracellular and Extracellular Domains. PMID:31158438
Fluctuating and Geographically Specific Selection Characterize Rapid Evolution of the Human KIR Region. PMID:31156615
Mutational burden and signatures in 4000 Japanese cancers provide insights into tumorigenesis and response to therapy. PMID:31152682
Predicting pathogenicity of missense variants with weakly supervised regression. PMID:31144781
Clinical utility of custom-designed NGS panel testing in pediatric tumors. PMID:31133068
Identification of functional missense single-nucleotide polymorphisms in TNFAIP3 in a predominantly Hispanic population. PMID:31131138
Computational Screening and Analysis of Lung Cancer Related Non-Synonymous Single Nucleotide Polymorphisms on the Human Kirsten Rat Sarcoma Gene. PMID:31117243
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. PMID:31114901
Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome. PMID:31114899
The potentiality of rice microsatellite markers in assessment of cross-species transferability and genetic diversity of rice and its wild relatives. PMID:31114741
Emery-Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia. PMID:31110749
B cells engineered to express pathogen-specific antibodies protect against infection. PMID:31101673
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report. PMID:31101089
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments. PMID:31099171
In silico prediction of housekeeping long intergenic non-coding RNAs reveals HKlincR1 as an essential player in lung cancer cell survival. PMID:31089191
OsteoporosAtlas: a human osteoporosis-related gene database. PMID:31086734
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. PMID:31079270
PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants. PMID:31075275
De novo emergence and potential function of human-specific tandem repeats in brain-related loci. PMID:31069507
Calling Variants in the Clinic: Informed Variant Calling Decisions Based on Biological, Clinical, and Laboratory Variables. PMID:31049166
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. PMID:31048900
Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation. PMID:31048683
Resistance to paclitaxel is associated with a variant of the gene BCL2 in multiple tumor types. PMID:31044156
Polymorphism rs1800255 from COL3A1 gene and the risk for pelvic organ prolapse. PMID:31041498
[Detection and interpretation of somatic variants in molecular pathology]. PMID:31037375
Finding driver mutations in cancer: Elucidating the role of background mutational processes. PMID:31034466
Proteogenomic Analysis of Human Colon Cancer Reveals New Therapeutic Opportunities. PMID:31031003
DNAscan: personal computer compatible NGS analysis, annotation and visualisation. PMID:31029080
Cell-level somatic mutation detection from single-cell RNA sequencing. PMID:31028395
Structural and functional impact of non-synonymous SNPs in the CST complex subunit TEN1: structural genomics approach. PMID:31028137
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. PMID:31026367
The impact of poly-A microsatellite heterologies in meiotic recombination. PMID:31023833
Impact of Genetic Variation on CRISPR-Cas Targeting. PMID:31021199
Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma. PMID:31018240
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. PMID:31015462
Gene expression differences between matched pairs of ovarian cancer patient tumors and patient-derived xenografts. PMID:31004097
De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. PMID:31001316
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus. PMID:30996265
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease. PMID:30994895
Haplotypes of CYP1B1 and CCDC57 genes in an Afro-Caribbean female population with uterine leiomyoma. PMID:30989560
Genomic variants identified from whole-genome resequencing of indicine cattle breeds from Pakistan. PMID:30973947
Pathogenic mutations in neurofibromin identifies a leucine-rich domain regulating glioma cell invasiveness. PMID:30967630
isoTar: Consensus Target Prediction with Enrichment Analysis for MicroRNAs Harboring Editing Sites and Other Variations. PMID:30963495
Genetics and the geography of health, behaviour and attainment. PMID:30962612
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. PMID:30961538
SeqSQC: A Bioconductor Package for Evaluating the Sample Quality of Next-generation Sequencing Data. PMID:30959223
Leveraging Spatial Variation in Tumor Purity for Improved Somatic Variant Calling of Archival Tumor Only Samples. PMID:30949446
Population structure and genetic diversity in yellow catfish (Pelteobagrus fulvidraco) assessed with microsatellites. PMID:30945691
Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next‑generation sequencing. PMID:30942411
Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma. PMID:30926794
Evolution of replication origins in vertebrate genomes: rapid turnover despite selective constraints. PMID:30916335
Rare Dihydropyrimidine Dehydrogenase Variants and Toxicity by Floropyrimidines: A Case Report. PMID:30915274
A new massively parallel nanoball sequencing platform for whole exome research. PMID:30909888
A greedy feature selection algorithm for Big Data of high dimensionality. PMID:30906113
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
Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots. PMID:30887040
Genetic Association of Olanzapine Treatment Response in Han Chinese Schizophrenia Patients. PMID:30886581
Novel Interleukin-10 Gene Polymorphism Is Linked to Gestational Diabetes in Taiwanese Population. PMID:30873205
Natural Selection Equally Supports the Human Tendencies in Subordination and Domination: A Genome-Wide Study With in silico Confirmation and in vivo Validation in Mice. PMID:30873204
Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2. PMID:30864654
GenCoNet - A Graph Database for the Analysis of Comorbidities by Gene Networks. PMID:30864352
Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis. PMID:30849372
mGAP: the macaque genotype and phenotype resource, a framework for accessing and interpreting macaque variant data, and identifying new models of human disease. PMID:30841849
RAD51D splice variants and cancer-associated mutations reveal XRCC2 interaction to be critical for homologous recombination. PMID:30836272
Deep convolutional neural networks for accurate somatic mutation detection. PMID:30833567
Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes. PMID:30827501
Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts. PMID:30824863
A hybrid approach for automated mutation annotation of the extended human mutation landscape in scientific literature. PMID:30815103
Exome sequencing in 51 early onset non-familial CRC cases. PMID:30809968
Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. PMID:30809243
vi-HMM: a novel HMM-based method for sequence variant identification in short-read data. PMID:30795817
Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition. PMID:30793038
Mitochondrial hypoxic stress induces widespread RNA editing by APOBEC3G in natural killer cells. PMID:30791937
Real-time PCR based detection of the lactase non-persistence associated genetic variant LCT-13910C>T directly from whole blood. PMID:30790118
The 4717C > G polymorphism in periplakin modulates sensitivity to EGFR inhibitors. PMID:30787334
Engineering of CHO cells for the production of vertebrate recombinant sialyltransferases. PMID:30775162
Rice Genomics: over the Past Two Decades and into the Future. PMID:30771506
The rs61742690 (S783N) single nucleotide polymorphism is a suitable target for disrupting BCL11A-mediated foetal-to-adult globin switching. PMID:30768627
Establishment, molecular and biological characterization of HCB-514: a novel human cervical cancer cell line. PMID:30760827
Structural variation and fusion detection using targeted sequencing data from circulating cell free DNA. PMID:30759232
Mixture deconvolution by massively parallel sequencing of microhaplotypes. PMID:30758713
Analysis of the Functional Relevance of Epigenetic Chromatin Marks in the First Intron Associated with Specific Gene Expression Patterns. PMID:30753418
Dopaminergic Pathway Genes Influence Adverse Events Related to Dopaminergic Treatment in Parkinson's Disease. PMID:30745869
The phylogeny of 48 alleles, experimentally verified at 21 kb, and its application to clinical allele detection. PMID:30744658
How good are pathogenicity predictors in detecting benign variants? PMID:30742610
Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562. PMID:30737237
Uncovering a multitude of human glucocorticoid receptor variants: an expansive survey of a single gene. PMID:30736733
CERENKOV2: improved detection of functional noncoding SNPs using data-space geometric features. PMID:30727967
CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID. PMID:30723478
VARIFI-Web-Based Automatic Variant Identification, Filtering and Annotation of Amplicon Sequencing Data. PMID:30717290
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus. PMID:30707351
HuVarBase: A human variant database with comprehensive information at gene and protein levels. PMID:30703169
Genetic Variants and the Cortisol Response in Children: An Exploratory Study. PMID:30700110
Molecular Mechanism of Cancer Susceptibility Associated with Fok1 Single Nucleotide Polymorphism of VDR in Relation to Breast Cancer. PMID:30678432
Genetics and Genomic Regions Affecting Response to Newcastle Disease Virus Infection under Heat Stress in Layer Chickens. PMID:30669351
Comparison of SureSelect and Nextera Exome Capture Performance in Single-Cell Sequencing. PMID:30669152
Characterizing the Major Structural Variant Alleles of the Human Genome. PMID:30661756
Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing. PMID:30661469
Biological Interpretation of Complex Genomic Data. PMID:30649721
GLIS Rearrangement is a Genomic Hallmark of Hyalinizing Trabecular Tumor of the Thyroid Gland. PMID:30648929
Long-term expanding human airway organoids for disease modeling. PMID:30643021
RCBTB1 Deletion Is Associated with Metastatic Outcome and Contributes to Docetaxel Resistance in Nontranslocation-Related Pleomorphic Sarcomas. PMID:30641971
Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population. PMID:30633749
Whole genomes define concordance of matched primary, xenograft, and organoid models of pancreas cancer. PMID:30629588
The 26th annual Nucleic Acids Research database issue and Molecular Biology Database Collection. PMID:30626175
Methylation of MTHFR Moderates the Effect of Smoking on Genomewide Methylation Among Middle Age African Americans. PMID:30619455
Novel disease syndromes unveiled by integrative multiscale network analysis of diseases sharing molecular effectors and comorbidities. PMID:30598089
Two Proximally Close Priority Candidate Genes for diplopodia-1, an Autosomal Inherited Craniofacial-Limb Syndrome in the Chicken: MRE11 and GPR83. PMID:30597046
Natural helix 9 mutants of PPARγ differently affect its transcriptional activity. PMID:30595551
Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant. PMID:30591068
Systematics for types and effects of DNA variations. PMID:30591019
Ancient exapted transposable elements promote nuclear enrichment of human long noncoding RNAs. PMID:30587508
Widespread Cumulative Influence of Small Effect Size Mutations on Yeast Quantitative Traits. PMID:30579728
Illuminating the genome-wide activity of genome editors for safe and effective therapeutics. PMID:30577870
Ensembl variation resources. PMID:30576484
Genomic alterations in gastric cancers discovered via whole-exome sequencing. PMID:30567531
The sequencing and interpretation of the genome obtained from a Serbian individual. PMID:30566479
Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family. PMID:30563518
High-resolution deconstruction of evolution induced by chemotherapy treatments in breast cancer xenografts. PMID:30560892
Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk. PMID:30559148
FORGe: prioritizing variants for graph genomes. PMID:30558649
regQTLs: Single nucleotide polymorphisms that modulate microRNA regulation of gene expression in tumors. PMID:30557297
DPYD, TYMS and MTHFR Genes Polymorphism Frequencies in a Series of Turkish Colorectal Cancer Patients. PMID:30551678
Integrating molecular networks with genetic variant interpretation for precision medicine. PMID:30548534
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database. PMID:30541431
atSNP Search: a web resource for statistically evaluating influence of human genetic variation on transcription factor binding. PMID:30534948
Gut microbiota diversity across ethnicities in the United States. PMID:30513082
Integrated genome sizing (IGS) approach for the parallelization of whole genome analysis. PMID:30509173
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. PMID:30507031
Affective response to physical activity as an intermediate phenotype. PMID:30502097
Extensive editing of cellular and viral double-stranded RNA structures accounts for innate immunity suppression and the proviral activity of ADAR1p150. PMID:30496178
Characterisation of the British honey bee metagenome. PMID:30478343
Distinct editing functions of natural HLA-DM allotypes impact antigen presentation and CD4+ T cell activation. PMID:30467419
Trypsin-encoding PRSS1-PRSS2 variations influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia: a Ponte di Legno toxicity working group report. PMID:30467200
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts. PMID:30459414
Using single nucleotide variations in single-cell RNA-seq to identify subpopulations and genotype-phenotype linkage. PMID:30459309
Assembly of a pan-genome from deep sequencing of 910 humans of African descent. PMID:30455414
Association Between the Interleukin-17 Gene Polymorphism -197G>A and the Risk of Prostate Cancer in a Galician Population. PMID:30446888
OncoBase: a platform for decoding regulatory somatic mutations in human cancers. PMID:30445567
Cell-Free DNA From Metastatic Pancreatic Neuroendocrine Tumor Patients Contains Tumor-Specific Mutations and Copy Number Variations. PMID:30443491
Whole genome sequencing puts forward hypotheses on metastasis evolution and therapy in colorectal cancer. PMID:30429477
Identification of Proteins Interacting with Single Nucleotide Polymorphisms (SNPs) by DNA Pull-Down Assay. PMID:30426431
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation. PMID:30425284
dbPTM in 2019: exploring disease association and cross-talk of post-translational modifications. PMID:30418626
Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data. PMID:30411536
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. PMID:30409984
PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. PMID:30407536
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency. PMID:30406445
TRIAMF: A New Method for Delivery of Cas9 Ribonucleoprotein Complex to Human Hematopoietic Stem Cells. PMID:30389991
The influence of Neanderthal alleles on cytotoxic response. PMID:30386687
Whole-Genome Alignment and Comparative Annotation. PMID:30379572
Using human sequencing to guide craniofacial research. PMID:30375152
SwissMTB: establishing comprehensive molecular cancer diagnostics in Swiss clinics. PMID:30373609
HmtVar: a new resource for human mitochondrial variations and pathogenicity data. PMID:30371888
SEdb: a comprehensive human super-enhancer database. PMID:30371817
ADAR1-mediated RNA editing is required for thymic self-tolerance and inhibition of autoimmunity. PMID:30361393
BitterDB: taste ligands and receptors database in 2019. PMID:30357384
Stable coexistence of genetically divergent Atlantic cod ecotypes at multiple spatial scales. PMID:30344625
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation. PMID:30333491
Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5. PMID:30333426
LncBook: a curated knowledgebase of human long non-coding RNAs. PMID:30329098
Mutations in PERP Cause Dominant and Recessive Keratoderma. PMID:30321533
New approach for understanding genome variations in KEGG. PMID:30321428
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy. PMID:30319454
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning. PMID:30319441
ClinGen Allele Registry links information about genetic variants. PMID:30311374
De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data. PMID:30304863
ERBB2 and KRAS alterations mediate response to EGFR inhibitors in early stage gallbladder cancer. PMID:30304546
Haplosaurus computes protein haplotypes for use in precision drug design. PMID:30297836
Recombination hotspots in an extended human pseudoautosomal domain predicted from double-strand break maps and characterized by sperm-based crossover analysis. PMID:30296256
The TLR1 gene is associated with higher protection from leprosy in women. PMID:30289892
Genotype Fingerprints Enable Fast and Private Comparison of Genetic Testing Results for Research and Direct-to-Consumer Applications. PMID:30287784
Development of an AmpliSeqTM Panel for Next-Generation Sequencing of a Set of Genetic Predictors of Persisting Pain. PMID:30283335
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. PMID:30283131
Induction of resistance to chimeric antigen receptor T cell therapy by transduction of a single leukemic B cell. PMID:30275568
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture. PMID:30274822
Epithelial RNase H2 Maintains Genome Integrity and Prevents Intestinal Tumorigenesis in Mice. PMID:30273559
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
A Patient-derived Xenograft Model of Pancreatic Neuroendocrine Tumors Identifies Sapanisertib as a Possible New Treatment for Everolimus-resistant Tumors. PMID:30254185
Mutations of genes including DNMT3A detected by next-generation sequencing in thyroid cancer. PMID:30252567
Long-range haplotype analysis of the malaria parasite receptor gene ACKR1 in an East-African population. PMID:30245840
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. PMID:30245029
POSTAR2: deciphering the post-transcriptional regulatory logics. PMID:30239819
Impact of vitamin D depletion during development on mouse sperm DNA methylation. PMID:30239288
A Statistical Method for Observing Personal Diploid Methylomes and Transcriptomes with Single-Molecule Real-Time Sequencing. PMID:30235838
Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes. PMID:30224649
AnimalTFDB 3.0: a comprehensive resource for annotation and prediction of animal transcription factors. PMID:30204897
The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's disease. PMID:30204156
DES-Mutation: System for Exploring Links of Mutations and Diseases. PMID:30190574
A machine learning approach for somatic mutation discovery. PMID:30185652
Immunogenomic analyses associate immunological alterations with mismatch repair defects in prostate cancer. PMID:30179225
Somatic TP53 Mutations Are Detectable in Circulating Tumor DNA from Children with Anaplastic Wilms Tumors. PMID:30172241
In Silico Analysis of the Minor Histocompatibility Antigen Landscape Based on the 1000 Genomes Project. PMID:30166983
Single nucleotide polymorphisms in the MYLKP1 pseudogene are associated with increased colon cancer risk in African Americans. PMID:30161129
Time-Series Analysis of Tumorigenesis in a Murine Skin Carcinogenesis Model. PMID:30158594
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
Rare gene deletions in genetic generalized and Rolandic epilepsies. PMID:30148849
Investigation of SOSTDC1 gene in non-syndromic patients with supernumerary teeth. PMID:30148467
bioSyntax: syntax highlighting for computational biology. PMID:30134911
Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing. PMID:30131598
Transcriptome-wide analysis uncovers the targets of the RNA-binding protein MSI2 and effects of MSI2's RNA-binding activity on IL-6 signaling. PMID:30126842
Detection of Molecular Alterations in Taiwanese Patients with Medullary Thyroid Cancer Using Whole-Exome Sequencing. PMID:30120715
Chemotherapy-induced peripheral neuropathy: evidence from genome-wide association studies and replication within multiple myeloma patients. PMID:30111286
Identification of pathways and genes associated with cerebral palsy. PMID:30109564
iMapSplice: Alleviating reference bias through personalized RNA-seq alignment. PMID:30096157
Effects of polymorphic variation on the thermostability of heterogenous populations of CYP3A4 and CYP2C9 enzymes in solution. PMID:30089838
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature. PMID:30089473
Resistance to the Plant Defensin NaD1 Features Modifications to the Cell Wall and Osmo-Regulation Pathways of Yeast. PMID:30087664
MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design. PMID:30075702
SPOP-Mutated/CHD1-Deleted Lethal Prostate Cancer and Abiraterone Sensitivity. PMID:30068710
Genetic analysis is helpful for the diagnosis of small bowel ulceration. PMID:30065566
Elucidating therapeutic molecular targets in premenopausal Asian women with recurrent breast cancers. PMID:30062102
BioMuta and BioXpress: mutation and expression knowledgebases for cancer biomarker discovery. PMID:30053270
ADReCS-Target: target profiles for aiding drug safety research and application. PMID:30053268
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias. PMID:30052933
Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes. PMID:30046645
Using Multi-Scale Genetic, Neuroimaging and Clinical Data for Predicting Alzheimer's Disease and Reconstruction of Relevant Biological Mechanisms. PMID:30042519
A patient-derived xenograft pre-clinical trial reveals treatment responses and a resistance mechanism to karonudib in metastatic melanoma. PMID:30042422
Predicting the clinical impact of human mutation with deep neural networks. PMID:30038395
CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations. PMID:30038052
Mutational Intratumor Heterogeneity is a Complex and Early Event in the Development of Adult T-cell Leukemia/Lymphoma. PMID:30032036
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma. PMID:30030436
Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients. PMID:30020974
Matrix Metalloproteinases Polymorphisms as Baseline Risk Predictors in Malignant Pleural Mesothelioma. PMID:30018519
Stem cell-derived clade F AAVs mediate high-efficiency homologous recombination-based genome editing. PMID:30018062
Characterization of Nine Cancer-Associated Variants in Human DNA Polymerase κ. PMID:30004685
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. PMID:30001348
The Complex Interaction of Mitochondrial Genetics and Mitochondrial Pathways in Psychiatric Disease. PMID:29998118
Prioritization and functional assessment of noncoding variants associated with complex diseases. PMID:29996888
Expression patterns and genetic variation of the ovine skeletal muscle transcriptome of sheep from five Spanish meat breeds. PMID:29993012
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. PMID:29983323
Six novel susceptibility loci for coronary artery disease and cerebral infarction identified by longitudinal exome-wide association studies in a Japanese population. PMID:29963304
appreci8: a pipeline for precise variant calling integrating 8 tools. PMID:29945233
Ribosome elongating footprints denoised by wavelet transform comprehensively characterize dynamic cellular translation events. PMID:29945224
Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses. PMID:29942513
Genome data uncover four synergistic key regulators for extremely small body size in horses. PMID:29940849
Weak effects of common genetic variation in oxytocin and vasopressin receptor genes on rhesus macaque social behavior. PMID:29931777
Comprehensive in-silico prediction of damage associated SNPs in Human Prolidase gene. PMID:29930383
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. PMID:29907873
Genetics of acute myeloid leukemia in the elderly: mutation spectrum and clinical impact in intensively treated patients aged 75 years or older. PMID:29903761
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization. PMID:29895960
9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus. PMID:29895553
iMusta4SLC: Database for the structural property and variations of solute carrier transporters. PMID:29892515
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? PMID:29891883
Exploring the Potential of Direct-To-Consumer Genomic Test Data for Predicting Adverse Drug Events. PMID:29888082
CATCH-KB: Establishing a Pharmacogenomics Variant Repository for Chemotherapy-Induced Cardiotoxicity. PMID:29888066
Molecular profiling and sequential somatic mutation shift in hypermutator tumours harbouring POLE mutations. PMID:29880869
Changing Trends in Computational Drug Repositioning. PMID:29874824
Evaluation of functionality for serine and threonine phosphorylation with different evolutionary ages in human and mouse. PMID:29866046
Somatic mutations in early onset luminal breast cancer. PMID:29854292
Efficacy of BGJ398, a Fibroblast Growth Factor Receptor 1-3 Inhibitor, in Patients with Previously Treated Advanced Urothelial Carcinoma with FGFR3 Alterations. PMID:29848605
Human-Mediated Introgression of Haplotypes in a Modern Dairy Cattle Breed. PMID:29848486
Identification of genes regulating traits targeted for domestication of field cress (Lepidium campestre) as a biennial and perennial oilseed crop. PMID:29843613
Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach. PMID:29804243
Bidirectional regulation of adenosine-to-inosine (A-to-I) RNA editing by DEAH box helicase 9 (DHX9) in cancer. PMID:29796672
BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study. PMID:29791287
Evidence of evolutionary history and selective sweeps in the genome of Meishan pig reveals its genetic and phenotypic characterization. PMID:29790964
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study. PMID:29788237
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability. PMID:29784605
GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits. PMID:29771388
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. PMID:29765282
VAReporter: variant reporter for cancer research of massive parallel sequencing. PMID:29764369
Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs. PMID:29763432
SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine. PMID:29757393
Combined linkage and association analysis of classical Hodgkin lymphoma. PMID:29755658
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. PMID:29754767
Discovering novel SNPs that are correlated with patient outcome in a Singaporean cancer patient cohort treated with gemcitabine-based chemotherapy. PMID:29751792
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer. PMID:29749045
Genomic features of renal cell carcinoma with venous tumor thrombus. PMID:29748622
Novel functional variants at the GWAS-implicated loci might confer risk to major depressive disorder, bipolar affective disorder and schizophrenia. PMID:29745862
Identification of polymorphisms in the bovine collagenous lectins and their association with infectious diseases in cattle. PMID:29744529
ICAM-1-related long non-coding RNA: promoter analysis and expression in human retinal endothelial cells. PMID:29743093
Genetic and Epigenetic Features of Rapidly Progressing IDH-Mutant Astrocytomas. PMID:29741737
A genome-wide survey of mutations in the Jurkat cell line. PMID:29739316
Detecting Somatic Mutations in Normal Cells. PMID:29731376
Playing 'hide-and-seek' with factor H: game-theoretical analysis of a single nucleotide polymorphism. PMID:29720453
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss. PMID:29713870
Predicting gene structure changes resulting from genetic variants via exon definition features. PMID:29701825
Functional characterisation of naturally occurring mutations in human melanopsin. PMID:29700553
System for Informatics in the Molecular Pathology Laboratory: An Open-Source End-to-End Solution for Next-Generation Sequencing Clinical Data Management. PMID:29698836
Massively parallel sequencing of micro-manipulated cells targeting a comprehensive panel of disease-causing genes: A comparative evaluation of upstream whole-genome amplification methods. PMID:29698522
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. PMID:29688405
AllerGAtlas 1.0: a human allergy-related genes database. PMID:29688358
Chemoresistance Evolution in Triple-Negative Breast Cancer Delineated by Single-Cell Sequencing. PMID:29681456
Effective discovery of rare variants by pooled target capture sequencing: A comparative analysis with individually indexed target capture sequencing. PMID:29677560
Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines. PMID:29667044
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis. PMID:29662108
Backbone Brackets and Arginine Tweezers delineate Class I and Class II aminoacyl tRNA synthetases. PMID:29659563
Single nucleotide variant counts computed from RNA sequencing and cellular traffic into human kidney allografts. PMID:29659169
TIA: algorithms for development of identity-linked SNP islands for analysis by massively parallel DNA sequencing. PMID:29642839
Effects of genetic variants in the TSPO gene on protein structure and stability. PMID:29641545
High-resolution temporal and regional mapping of MAPT expression and splicing in human brain development. PMID:29634760
Transient receptor potential polymorphism and haplotype associate with crisis pain in sickle cell disease. PMID:29620434
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses. PMID:29618732
A Comprehensive in Silico Analysis of Regulatory SNPs of Human CLEC7A Gene and Its Validation as Genotypic and Phenotypic Disease Marker in Recurrent Vulvovaginal Infections. PMID:29616193
Homo sapiens-Specific Binding Site Variants within Brain Exclusive Enhancers Are Subject to Accelerated Divergence across Human Population. PMID:29608725
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma. PMID:29602769
Expression of novel "LOCGEF" isoforms of ARHGEF18 in eosinophils. PMID:29601110
Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. PMID:29596782
Systematic characterization of pan-cancer mutation clusters. PMID:29572294
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. PMID:29565420
No evidence for association of MTHFR 677C>T and 1298A>C variants with placental DNA methylation. PMID:29564022
Identification of potential regulatory mutations using multi-omics analysis and haplotyping of lung adenocarcinoma cell lines. PMID:29563587
Efficient pathway enrichment and network analysis of GWAS summary data using GSA-SNP2. PMID:29562348
Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues. PMID:29545821
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. PMID:29543232
Two novel colorectal cancer risk loci in the region on chromosome 9q22.32. PMID:29541405
Prediction and interpretation of deleterious coding variants in terms of protein structural stability. PMID:29540703
Unveiling new interdependencies between significant DNA methylation sites, gene expression profiles and glioma patients survival. PMID:29535343
Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer. PMID:29531238
Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria. PMID:29523635
Genetics and Crime: Integrating New Genomic Discoveries Into Psychological Research About Antisocial Behavior. PMID:29513605
Analysis of a gene panel for targeted sequencing of colorectal cancer samples. PMID:29507673
Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters. PMID:29504899
Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma. PMID:29497050
Association between DNA methylation profiles in leukocytes and serum levels of persistent organic pollutants in Dutch men. PMID:29492303
The landscape of genomic alterations across childhood cancers. PMID:29489754
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection. PMID:29487696
The human noncoding genome defined by genetic diversity. PMID:29483654
Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes. PMID:29483503
Recently Evolved Tumor Suppressor Transcript TP73-AS1 Functions as Sponge of Human-Specific miR-941. PMID:29474580
Association between receptor interacting serine/threonine kinase 2 polymorphisms and gastric cancer susceptibility. PMID:29467894
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling. PMID:29463778
Identification of genetic variants for clinical management of familial colorectal tumors. PMID:29458332
Recon3D enables a three-dimensional view of gene variation in human metabolism. PMID:29457794
Association of STAT6 gene variants with food allergy diagnosed by double-blind placebo-controlled food challenges. PMID:29457221
Time-resolved analysis of amino acid stress identifies eIF2 phosphorylation as necessary to inhibit mTORC1 activity in liver. PMID:29449374
Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome. PMID:29439659
Genetic Hitchhiking and Population Bottlenecks Contribute to Prostate Cancer Disparities in Men of African Descent. PMID:29438991
STAT3-enhancing germline mutations contribute to tumor-extrinsic immune evasion. PMID:29438108
Long non-coding RNA PAX8-AS1 polymorphisms increase the risk of childhood acute lymphoblastic leukemia. PMID:29435279
Assessment of a new genomic classification system in acute myeloid leukemia with a normal karyotype. PMID:29435155
Clinical Pharmacogenetic Models of Treatment Response to Methotrexate Monotherapy in Slovenian and Serbian Rheumatoid Arthritis Patients: Differences in Patient's Management May Preclude Generalization of the Models. PMID:29422864
Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study. PMID:29421402
Mutational Profiling of Malignant Mesothelioma Revealed Potential Therapeutic Targets in EGFR and NRAS. PMID:29413759
"Bridge to the Literature"? Third-Party Genetic Interpretation Tools and the Views of Tool Developers. PMID:29411211
Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale. PMID:29409527
Loss-of-function uORF mutations in human malignancies. PMID:29402903
CoVaCS: a consensus variant calling system. PMID:29402227
The genetic structure of the Belgian population. PMID:29394955
XRCC3 Thr241Met and TYMS variable number tandem repeat polymorphisms are associated with time-to-metastasis in colorectal cancer. PMID:29394274
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. PMID:29392648
Relationship of vitamin D receptor gene polymorphisms in Helicobacter pylori gastric patients. PMID:29391820
Contraction of T cell richness in lung cancer brain metastases. PMID:29391594
Cross-linking BioThings APIs through JSON-LD to facilitate knowledge exploration. PMID:29390967
Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer. PMID:29387807
Comprehensive Characterization of the RNA Editomes in Cancer Development and Progression. PMID:29387082
Lnc2Catlas: an atlas of long noncoding RNAs associated with risk of cancers. PMID:29382910
Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis: A case report. PMID:29381936
A novel cell line generated using the CRISPR/Cas9 technology as universal quality control material for KRAS G12V mutation testing. PMID:29380513
GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases. PMID:29374474
Profile of the breast cancer susceptibility marker rs4245739 identifies a role for miRNAs. PMID:29372105
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients. PMID:29367705
Conserved and species-specific transcription factor co-binding patterns drive divergent gene regulation in human and mouse. PMID:29361190
Appendiceal goblet cell carcinoids and adenocarcinomas ex-goblet cell carcinoid are genetically distinct from primary colorectal-type adenocarcinoma of the appendix. PMID:29327707
A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth. PMID:29317701
Allele-specific SHAPE-MaP assessment of the effects of somatic variation and protein binding on mRNA structure. PMID:29317542
Cancer risk susceptibility loci in a Swedish population. PMID:29299148
Impact of genomic alterations on outcomes in myelofibrosis patients undergoing JAK1/2 inhibitor therapy. PMID:29296819
Comprehensive molecular biomarker identification in breast cancer brain metastases. PMID:29287594
Bioinformatics for precision oncology. PMID:29272324
CDKL5 variants: Improving our understanding of a rare neurologic disorder. PMID:29264392
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas. PMID:29263839
Mutational profiles of breast cancer metastases from a rapid autopsy series reveal multiple evolutionary trajectories. PMID:29263308
eGARD: Extracting associations between genomic anomalies and drug responses from text. PMID:29261751
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP. PMID:29261713
Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia. PMID:29258992
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework. PMID:29254494
Patterns of Genomic Variation in the Opportunistic Pathogen Candida glabrata Suggest the Existence of Mating and a Secondary Association with Humans. PMID:29249661
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum. PMID:29245897
Conjunction of potential G-quadruplex and adjacent cis-elements in the 5' UTR of hepatocyte nuclear factor 4-alpha strongly inhibit protein expression. PMID:29234104
Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans. PMID:29233967
Functional and evolutionary analysis of Korean bob-tailed native dog using whole-genome sequencing data. PMID:29230066
Functional characterization of the G162R and D216H genetic variants of human CYP17A1. PMID:29229304
Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation. PMID:29225858
Prediction on the risk population of idiosyncratic adverse reactions based on molecular docking with mutant proteins. PMID:29221149
In-Cardiome: integrated knowledgebase for coronary artery disease enabling translational research. PMID:29220465
Convergent downstream candidate mechanisms of independent intergenic polymorphisms between co-classified diseases implicate epistasis among noncoding elements. PMID:29218911
Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol. PMID:29218011
Aging and neurodegeneration are associated with increased mutations in single human neurons. PMID:29217584
Measuring mutation accumulation in single human adult stem cells by whole-genome sequencing of organoid cultures. PMID:29215633
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. PMID:29205322
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study. PMID:29204651
Genetic Pleiotropy between Nicotine Dependence and Respiratory Outcomes. PMID:29203782
Heritable genotype contrast mining reveals novel gene associations specific to autism subgroups. PMID:29197649
Properties of human genes guided by their enrichment in rare and common variants. PMID:29197136
3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. PMID:29196799
Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations. PMID:29191167
RNA sequencing reveals candidate genes and polymorphisms related to sperm DNA integrity in testis tissue from boars. PMID:29183316
Aneuploidy, TP53 mutation, and amplification of MYC correlate with increased intratumor heterogeneity and poor prognosis of breast cancer patients. PMID:29181861
Screening drug effects in patient-derived cancer cells links organoid responses to genome alterations. PMID:29180611
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. PMID:29178637
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications. PMID:29176389
Modular probes for enriching and detecting complex nucleic acid sequences. PMID:29168489
Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy. PMID:29167554
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. PMID:29159471
Ensembl 2018. PMID:29155950
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families. PMID:29150909
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
rSNPBase 3.0: an updated database of SNP-related regulatory elements, element-gene pairs and SNP-based gene regulatory networks. PMID:29140525
Minimotif Miner 4: a million peptide minimotifs and counting. PMID:29140456
Functional annotation of structural ncRNAs within enhancer RNAs in the human genome: implications for human disease. PMID:29138457
A Resource for the Allele-Specific Analysis of DNA Methylation at Multiple Genomically Imprinted Loci in Mice. PMID:29138238
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease. PMID:29133643
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening. PMID:29131160
DBTSS/DBKERO for integrated analysis of transcriptional regulation. PMID:29126224
Prediction of a highly deleterious mutation E17K in AKT-1 gene: An in silico approach. PMID:29114575
VarCards: an integrated genetic and clinical database for coding variants in the human genome. PMID:29112736
iUUCD 2.0: an update with rich annotations for ubiquitin and ubiquitin-like conjugations. PMID:29106644
Structure-mediated modulation of mRNA abundance by A-to-I editing. PMID:29093448
"Personalized Cancer Therapy": A Publicly Available Precision Oncology Resource. PMID:29092956
Idiopathic hypereosinophilia is clonal disorder? Clonality identified by targeted sequencing. PMID:29088303
Genetic Risk Factors in Cerebrovascular Disorders and Cognitive Deterioration. PMID:29081697
sRNAnalyzer-a flexible and customizable small RNA sequencing data analysis pipeline. PMID:29069500
Genome Variation Map: a data repository of genome variations in BIG Data Center. PMID:29069473
Identification of polymorphisms in cancer patients that differentially affect survival with age. PMID:29064820
Genomics of extreme ecological specialists: multiple convergent evolution but no genetic divergence between ecotypes of Maculinea alcon butterflies. PMID:29062104
Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues. PMID:29058714
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome. PMID:29058154
Universal Patterns of Selection in Cancer and Somatic Tissues. PMID:29056346
A method to reduce ancestry related germline false positives in tumor only somatic variant calling. PMID:29052513
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene. PMID:29047041
Reconstructing the Molecular Function of Genetic Variation in Regulatory Networks. PMID:29046401
The Antibody Repertoire of Colorectal Cancer. PMID:29046389
RISE: a database of RNA interactome from sequencing experiments. PMID:29040625
Identification of genome variations in patients with lung adenocarcinoma using whole genome re‑sequencing. PMID:29039585
DISNOR: a disease network open resource. PMID:29036667
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. PMID:29036432
Rare germline variants in known melanoma susceptibility genes in familial melanoma. PMID:29036293
Exome sequencing analysis of murine medulloblastoma models identifies WDR11 as a potential tumor suppressor in Group 3 tumors. PMID:29029386
Novel mutations in Darier disease and association to self-reported disease severity. PMID:29028823
Quantification of mitochondrial DNA copy number in suspected cancer patients by a well optimized ddPCR method. PMID:29021970
Fine mapping of a QTL affecting levels of skatole on pig chromosome 7. PMID:29020941
Resources for Interpreting Variants in Precision Genomic Oncology Applications. PMID:28975082
Insights into beta cell regeneration for diabetes via integration of molecular landscapes in human insulinomas. PMID:28974674
Association of a novel point mutation in MSH2 gene with familial multiple primary cancers. PMID:28974240
SNPDelScore: combining multiple methods to score deleterious effects of noncoding mutations in the human genome. PMID:28968739
tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine. PMID:28968638
HUMA: A platform for the analysis of genetic variation in humans. PMID:28967693
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. PMID:28963436
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome. PMID:28947817
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. PMID:28944233
START: a system for flexible analysis of hundreds of genomic signal tracks in few lines of SQL-like queries. PMID:28938868
Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison. PMID:28936210
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. PMID:28927399
Genome-wide association studies of albuminuria: towards genetic stratification in diabetes? PMID:28918587
Backward genotype-transcript-phenotype association mapping. PMID:28917724
Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints. PMID:28904015
Biological networks in Parkinson's disease: an insight into the epigenetic mechanisms associated with this disease. PMID:28899360
APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism. PMID:28878238
Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer. PMID:28874753
CRISPR-FOCUS: A web server for designing focused CRISPR screening experiments. PMID:28873439
Mitochondrial mutations in human cancer: Curation of translation. PMID:28873329
Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy. PMID:28867931
Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels. PMID:28861891
Identification of cis-regulatory mutations generating de novo edges in personalized cancer gene regulatory networks. PMID:28854983
The Mitonuclear Dimension of Neanderthal and Denisovan Ancestry in Modern Human Genomes. PMID:28854627
Fate mapping of human glioblastoma reveals an invariant stem cell hierarchy. PMID:28854171
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population. PMID:28832569
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1. PMID:28825856
Whole exome sequencing of wild-derived inbred strains of mice improves power to link phenotype and genotype. PMID:28819774
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics. PMID:28815929
Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing. PMID:28808973
Settling the score: variant prioritization and Mendelian disease. PMID:28804138
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. PMID:28800606
Analytical Strategy to Prioritize Alzheimer's Disease Candidate Genes in Gene Regulatory Networks Using Public Expression Data. PMID:28800327
Host mechanisms involved in cattle Escherichia coli O157 shedding: a fundamental understanding for reducing foodborne pathogen in food animal production. PMID:28794460
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. PMID:28777931
Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters. PMID:28775688
Uracil Accumulation and Mutagenesis Dominated by Cytosine Deamination in CpG Dinucleotides in Mice Lacking UNG and SMUG1. PMID:28775312
Rosetta Broker for membrane protein structure prediction: concentrative nucleoside transporter 3 and corticotropin-releasing factor receptor 1 test cases. PMID:28774292
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PMID:28771489
Versatile ion S5XL sequencer for targeted next generation sequencing of solid tumors in a clinical laboratory. PMID:28767674
Integrative whole-genome sequence analysis reveals roles of regulatory mutations in BCL6 and BCL2 in follicular lymphoma. PMID:28765546
Epigenetic resetting of human pluripotency. PMID:28765214
Predicting Amino Acid Substitution Probabilities Using Single Nucleotide Polymorphisms. PMID:28754661
Mutations targeting the coagulation pathway are enriched in brain metastases. PMID:28747664
Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function. PMID:28747224
Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions. PMID:28742110
Evaluation of Quality Assessment Protocols for High Throughput Genome Resequencing Data. PMID:28736571
Targeted next-generation sequencing supports epidermoid metaplasia of the esophagus as a precursor to esophageal squamous neoplasia. PMID:28731047
The whole-genome landscape of medulloblastoma subtypes. PMID:28726821
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines. PMID:28716134
Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme. PMID:28715844
Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain. PMID:28708842
Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease. PMID:28699106
Integrating Next-Generation Genomic Sequencing and Mass Spectrometry To Estimate Allele-Specific Protein Abundance in Human Brain. PMID:28691493
MAPT Genetic Variation and Neuronal Maturity Alter Isoform Expression Affecting Axonal Transport in iPSC-Derived Dopamine Neurons. PMID:28689993
Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis. PMID:28680106
Comparing distributions of polygenic risk scores of type 2 diabetes and coronary heart disease within different populations. PMID:28678847
SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data. PMID:28669402
Gene expression allelic imbalance in ovine brown adipose tissue impacts energy homeostasis. PMID:28665992
ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. PMID:28659176
ISVASE: identification of sequence variant associated with splicing event using RNA-seq data. PMID:28659141
Next-generation sequencing of the human TRPV1 gene and the regulating co-players LTB4R and LTB4R2 based on a custom AmpliSeq™ panel. PMID:28658281
An ancestral haplotype of the human PERIOD2 gene associates with reduced sensitivity to light-induced melatonin suppression. PMID:28650999
Ataxia Telangiectasia-Mutated (ATM)Polymorphisms and Risk of Lung Cancer in a Chinese Population. PMID:28642860
Signatures of Selection for Environmental Adaptation and Zebu × Taurine Hybrid Fitness in East African Shorthorn Zebu. PMID:28642786
The evolving genetic risk for sporadic ALS. PMID:28642336
Evolution of microRNA in primates. PMID:28640911
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE. PMID:28640805
al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations. PMID:28638141
Systematic Prediction of the Impacts of Mutations in MicroRNA Seed Sequences. PMID:28637929
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. PMID:28630369
Genetic variation in the obesity gene FTO is not associated with decreased fat oxidation: the NEO study. PMID:28626215
Pattern recognition for predictive, preventive, and personalized medicine in cancer. PMID:28620443
Investigation of the STR loci noise distributions of PowerSeq™ Auto System. PMID:28613038
Efficient identification of SNPs in pooled DNA samples using a dual mononucleotide addition-based sequencing method. PMID:28612167
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families. PMID:28608266
Mucosa-associated microbiota signature in colorectal cancer. PMID:28600626
Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing. PMID:28595269
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. PMID:28594829
Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability. PMID:28591191
Genetic insights into juvenile idiopathic arthritis derived from deep whole genome sequencing. PMID:28572608
In silico analyses of deleterious missense SNPs of human apolipoprotein E3. PMID:28559539
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening. PMID:28546993
Development and Validation of an Ultradeep Next-Generation Sequencing Assay for Testing of Plasma Cell-Free DNA from Patients with Advanced Cancer. PMID:28536309
HGVA: the Human Genome Variation Archive. PMID:28535294
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing. PMID:28526081
Targeted sequencing of tonsillar and base of tongue cancer and human papillomavirus positive unknown primary of the head and neck reveals prognostic effects of mutated FGFR3. PMID:28525363
Somatic Tumor Mutations Detected by Targeted Next Generation Sequencing in Minute Amounts of Serum-Derived Cell-Free DNA. PMID:28522829
Recent omics technologies and their emerging applications for personalised medicine. PMID:28518059
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. PMID:28513613
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. PMID:28511696
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges. PMID:28508593
Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients. PMID:28505210
GenProBiS: web server for mapping of sequence variants to protein binding sites. PMID:28498966
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. PMID:28496993
Genome-wide association study confirm major QTL for backfat fatty acid composition on SSC14 in Duroc pigs. PMID:28494783
Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma. PMID:28487882
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. PMID:28469144
Optimized approach for Ion Proton RNA sequencing reveals details of RNA splicing and editing features of the transcriptome. PMID:28459821
CIRCLE-seq: a highly sensitive in vitro screen for genome-wide CRISPR-Cas9 nuclease off-targets. PMID:28459458
Methods, Tools and Current Perspectives in Proteogenomics. PMID:28456751
Novel oxytocin receptor variants in laboring women requiring high doses of oxytocin. PMID:28456503
Genetic association studies in cardiovascular diseases: Do we have enough power? PMID:28456354
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization. PMID:28454514
PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update. PMID:28453649
Blood type, ABO genetic variants, and ovarian cancer survival. PMID:28448592
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations. PMID:28445466
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism. PMID:28444561
Y-chromosomal sequences of diverse Indian populations and the ancestry of the Andamanese. PMID:28444560
Whole genome sequencing predicts novel human disease models in rhesus macaques. PMID:28438488
MTHFR methylation moderates the impact of smoking on DNA methylation at AHRR for African American young adults. PMID:28436623
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. PMID:28430856
Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations. PMID:28429735
Whole-Exome Sequencing of Metaplastic Breast Carcinoma Indicates Monoclonality with Associated Ductal Carcinoma Component. PMID:28424200
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. PMID:28416818
Relationship of Genetic Variants With Procedural Pain, Anxiety, and Distress in Children. PMID:28413930
Segmentum: a tool for copy number analysis of cancer genomes. PMID:28407731
Population- and individual-specific regulatory variation in Sardinia. PMID:28394350
Epigenome-wide Association of DNA Methylation in Whole Blood With Bone Mineral Density. PMID:28394087
A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. PMID:28388887
SLiMSearch: a framework for proteome-wide discovery and annotation of functional modules in intrinsically disordered regions. PMID:28387819
SNPs in microRNA target sites and their potential role in human disease. PMID:28381629
Drug repurposing from the perspective of pharmaceutical companies. PMID:28369768
Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes. PMID:28366443
ABCMdb reloaded: updates on mutations in ATP binding cassette proteins. PMID:28365738
Pysim-sv: a package for simulating structural variation data with GC-biases. PMID:28361688
Genome graphs and the evolution of genome inference. PMID:28360232
A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic. PMID:28355232
Genomic profiling reveals mutational landscape in parathyroid carcinomas. PMID:28352668
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. PMID:28349240
Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes. PMID:28346524
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. PMID:28334996
rMATS-DVR: rMATS discovery of differential variants in RNA. PMID:28334241
DNA Compass: a secure, client-side site for navigating personal genetic information. PMID:28334237
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma. PMID:28324520
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. PMID:28324312
Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening. PMID:28324009
Single nucleotide variants and InDels identified from whole-genome re-sequencing of Guzerat, Gyr, Girolando and Holstein cattle breeds. PMID:28323836
DNA methylation patterns of behavior-related gene promoter regions dissect the gray wolf from domestic dog breeds. PMID:28321510
Development of Bioinformatics Infrastructure for Genomics Research. PMID:28302555
Structure-Based Analysis of Single Nucleotide Variants in the Renin-Angiotensinogen Complex. PMID:28302554
Role of Structural Bioinformatics in Drug Discovery by Computational SNP Analysis: Analyzing Variation at the Protein Level. PMID:28302551
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). PMID:28301468
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. PMID:28299356
Impact of genetic variation on three dimensional structure and function of proteins. PMID:28296894
GEAR: A database of Genomic Elements Associated with drug Resistance. PMID:28294141
Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders. PMID:28289279
Computational Modeling of complete HOXB13 protein for predicting the functional effect of SNPs and the associated role in hereditary prostate cancer. PMID:28272408
Genetic dissection of colorectal cancer progression by orthotopic transplantation of engineered cancer organoids. PMID:28270604
Influence of DPH1 and DPH5 Protein Variants on the Synthesis of Diphthamide, the Target of ADPRibosylating Toxins. PMID:28245596
BBCAnalyzer: a visual approach to facilitate variant calling. PMID:28241736
Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect? PMID:28239348
BaalChIP: Bayesian analysis of allele-specific transcription factor binding in cancer genomes. PMID:28235418
DNApod: DNA polymorphism annotation database from next-generation sequence read archives. PMID:28234924
Association of IFIH1 and pro-inflammatory mediators: Potential new clues in SLE-associated pathogenesis. PMID:28234905
Comprehensive analysis of long non-coding RNAs highlights their spatio-temporal expression patterns and evolutional conservation in Sus scrofa. PMID:28233874
Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data. PMID:28233799
ALKBH7 Variant Related to Prostate Cancer Exhibits Altered Substrate Binding. PMID:28231280
Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling. PMID:28230923
GLM-based optimization of NGS data analysis: A case study of Roche 454, Ion Torrent PGM and Illumina NextSeq sequencing data. PMID:28222155
Big Data Analytics for Genomic Medicine. PMID:28212287
nala: text mining natural language mutation mentions. PMID:28200120
Role of UCP1 Gene Variants in Interethnic Differences in the Development of Cardio-Metabolic Diseases. PMID:28194159
Recurrently deregulated lncRNAs in hepatocellular carcinoma. PMID:28194035
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. PMID:28190454
Small genomic insertions form enhancers that misregulate oncogenes. PMID:28181482
Distribution bias analysis of germline and somatic single-nucleotide variations that impact protein functional site and neighboring amino acids. PMID:28176830
Cis-acting single nucleotide polymorphisms alter MicroRNA-mediated regulation of human brain-expressed transcripts. PMID:28171541
Supporting precision medicine by data mining across multi-disciplines: an integrative approach for generating comprehensive linkages between single nucleotide variants (SNVs) and drug-binding sites. PMID:28158543
The subclonal structure and genomic evolution of oral squamous cell carcinoma revealed by ultra-deep sequencing. PMID:28157713
The current state of clinical interpretation of sequence variants. PMID:28157586
Fast and accurate mutation detection in whole genome sequences of multiple isogenic samples with IsoMut. PMID:28143617
Genome-Wide Association Study of Polymorphisms Predisposing to Bronchiolitis. PMID:28139761
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). PMID:28137957
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. PMID:28137300
Towards standardization of next-generation sequencing of FFPE samples for clinical oncology: intrinsic obstacles and possible solutions. PMID:28137276
Review: Pharmacogenetics of alcoholism treatment: Implications of ethnic diversity. PMID:28134463
Computational predictors fail to identify amino acid substitution effects at rheostat positions. PMID:28134345
De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. PMID:28126021
Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients. PMID:28124432
Epistatic effect of TLR-1, -6 and -10 polymorphisms on organic dust-mediated cytokine response. PMID:28123183
A variant by any name: quantifying annotation discordance across tools and clinical databases. PMID:28122645
Recent Positive Selection in Genes of the Mammalian Epidermal Differentiation Complex Locus. PMID:28119736
Whole-exome sequencing of 228 patients with sporadic Parkinson's disease. PMID:28117402
Targeted Sequencing of Lung Function Loci in Chronic Obstructive Pulmonary Disease Cases and Controls. PMID:28114305
Candidate SNP markers of aggressiveness-related complications and comorbidities of genetic diseases are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters. PMID:28105927
Phenotype-Specific Association of Single-Nucleotide Polymorphisms with Heart Failure and Preserved Ejection Fraction: a Genome-Wide Association Analysis of the Cardiovascular Health Study. PMID:28105587
Molecular classification of tissue from a transformed non-Hogkin's lymphoma case with unexpected long-time remission. PMID:28097046
MultiDataSet: an R package for encapsulating multiple data sets with application to omic data integration. PMID:28095799
Expression profiling elucidates a molecular gene signature for pulmonary hypertension in sarcoidosis. PMID:28090288
Crohn disease risk prediction-Best practices and pitfalls with exome data. PMID:28087895
Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine. PMID:28087410
Mutation-Structure-Function Relationship Based Integrated Strategy Reveals the Potential Impact of Deleterious Missense Mutations in Autophagy Related Proteins on Hepatocellular Carcinoma (HCC): A Comprehensive Informatics Approach. PMID:28085066
SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression. PMID:28084402
A high frequency missense SULT1B1 allelic variant (L145V) selectively expressed in African descendants exhibits altered kinetic properties. PMID:28084139
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. PMID:28081714
A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data. PMID:28070503
Genomic hallmarks of localized, non-indolent prostate cancer. PMID:28068672
Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories. PMID:28067867
Colorectal mixed adenoneuroendocrine carcinomas and neuroendocrine carcinomas are genetically closely related to colorectal adenocarcinomas. PMID:28059096
INDELseek: detection of complex insertions and deletions from next-generation sequencing data. PMID:28056804
Characterization of saliva microbiota's functional feature based on metagenomic sequencing. PMID:28053828
GETPrime 2.0: gene- and transcript-specific qPCR primers for 13 species including polymorphisms. PMID:28053161
Evolution of transcript modification by N6-methyladenosine in primates. PMID:28052920
Effects of alcohol consumption, ALDH2 rs671 polymorphism, and Helicobacter pylori infection on the gastric cancer risk in a Korean population. PMID:28036260
Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder. PMID:28030643
On-the-fly selection of cell-specific enhancers, genes, miRNAs and proteins across the human body using SlideBase. PMID:28025337
The Mutational Landscape of the Oncogenic MZF1 SCAN Domain in Cancer. PMID:28018905
VaProS: a database-integration approach for protein/genome information retrieval. PMID:28012137
A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation. PMID:28002430
IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study. PMID:27997540
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
Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2). PMID:27991905
Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. PMID:27989323
Evolution of multiple cell clones over a 29-year period of a CLL patient. PMID:27982015
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations. PMID:27966633
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. PMID:27966545
Enhanced Visualization of Subtle Outer Retinal Pathology by En Face Optical Coherence Tomography and Correlation with Multi-Modal Imaging. PMID:27959968
Influence of the HER receptor ligand system on sensitivity to cetuximab and trastuzumab in gastric cancer cell lines. PMID:27933395
A novel class of somatic mutations in blood detected preferentially in CD8+ cells. PMID:27932211
Comprehensive characterization, annotation and innovative use of Infinium DNA methylation BeadChip probes. PMID:27924034
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. PMID:27924018
Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases. PMID:27923045
Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource. PMID:27903883
BNC2 is a putative tumor suppressor gene in high-grade serous ovarian carcinoma and impacts cell survival after oxidative stress. PMID:27899818
Rice SNP-seek database update: new SNPs, indels, and queries. PMID:27899667
The UCSC Genome Browser database: 2017 update. PMID:27899642
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor. PMID:27899581
COSMIC: somatic cancer genetics at high-resolution. PMID:27899578
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. PMID:27896283
Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis. PMID:27896051
Discovery and genotyping of structural variation from long-read haploid genome sequence data. PMID:27895111
Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population. PMID:27888397
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes. PMID:27882922
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients. PMID:27881154
In-depth comparison of somatic point mutation callers based on different tumor next-generation sequencing depth data. PMID:27874022
Integrating pharmacogenomics into electronic health records with clinical decision support. PMID:27864204
A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease. PMID:27863505
In silico SNP analysis of the breast cancer antigen NY-BR-1. PMID:27863482
The ChIP-Seq tools and web server: a resource for analyzing ChIP-seq and other types of genomic data. PMID:27863463
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. PMID:27863252
Multiethnic involvement in autosomal-dominant optic atrophy in Singapore. PMID:27858935
Diagnostic evaluation of RNA sequencing for the detection of genetic abnormalities associated with Ph-like acute lymphoblastic leukemia (ALL). PMID:27855558
Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System. PMID:27835667
Chitinase-3-like 1 protein (CHI3L1) locus influences cerebrospinal fluid levels of YKL-40. PMID:27832767
Mutation near the binding interfaces at α-hemoglobin stabilizing protein is highly pathogenic. PMID:27830006
The PARA-suite: PAR-CLIP specific sequence read simulation and processing. PMID:27812418
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. PMID:27811305
Mutational signatures associated with tobacco smoking in human cancer. PMID:27811275
snpGeneSets: An R Package for Genome-Wide Study Annotation. PMID:27807048
MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency. PMID:27802094
Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals. PMID:27799217
Detection of CYP2C19 Genetic Variants in Malaysian Orang Asli from Massively Parallel Sequencing Data. PMID:27798644
Isomorphic semantic mapping of variant call format (VCF2RDF). PMID:27797761
Human Germline Mutation and the Erratic Evolutionary Clock. PMID:27760127
From next-generation resequencing reads to a high-quality variant data set. PMID:27759079
Visualizing the geography of genetic variants. PMID:27742697
Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients. PMID:27736846
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. PMID:27734943
Germline mutations in Japanese familial pancreatic cancer patients. PMID:27732944
The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum. PMID:27716216
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. PMID:27708267
Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort. PMID:27703193
MicroRNA-related polymorphisms and non-Hodgkin lymphoma susceptibility in the Multicenter AIDS Cohort Study. PMID:27701053
Tissue-specific mutation accumulation in human adult stem cells during life. PMID:27698416
MSP-HTPrimer: a high-throughput primer design tool to improve assay design for DNA methylation analysis in epigenetics. PMID:27688817
Single Synonymous Mutations in KRAS Cause Transformed Phenotypes in NIH3T3 Cells. PMID:27684555
Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation. PMID:27673361
Loss of IFN-γ Pathway Genes in Tumor Cells as a Mechanism of Resistance to Anti-CTLA-4 Therapy. PMID:27667683
Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees. PMID:27666371
Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease. PMID:27653456
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care. PMID:27652278
Elevated systemic glutamic acid level in the non-obese diabetic mouse is Idd linked and induces beta cell apoptosis. PMID:27649685
PDE11A negatively regulates lithium responsivity. PMID:27646265
A Biobank of Breast Cancer Explants with Preserved Intra-tumor Heterogeneity to Screen Anticancer Compounds. PMID:27641504
Evolutionary Analyses of Hanwoo (Korean Cattle)-Specific Single-Nucleotide Polymorphisms and Genes Using Whole-Genome Resequencing Data of a Hanwoo Population. PMID:27640093
Candidate SNP Markers of Chronopathologies Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters. PMID:27635400
Clonal hematopoiesis in patients with dyskeratosis congenita. PMID:27622320
Estrogen Drives Cellular Transformation and Mutagenesis in Cells Expressing the Breast Cancer-Associated R438W DNA Polymerase Lambda Protein. PMID:27621267
Full-length nucleotide sequence of ERMAP alleles encoding Scianna (SC) antigens. PMID:27612015
The significance of c.690G>T polymorphism (rs34529039) and expression of the CEBPA gene in ovarian cancer outcome. PMID:27602952
Association of FGD1 polymorphisms with early-onset breast cancer. PMID:27602141
On the privacy risks of sharing clinical proteomics data. PMID:27595046
Fast genotyping of known SNPs through approximate k-mer matching. PMID:27587672
Classification of breast cancer patients using somatic mutation profiles and machine learning approaches. PMID:27587275
Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders. PMID:27580923
Identifying significant gene-environment interactions using a combination of screening testing and hierarchical false discovery rate control. PMID:27578615
RNA2DNAlign: nucleotide resolution allele asymmetries through quantitative assessment of RNA and DNA paired sequencing data. PMID:27576531
G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures. PMID:27565432
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease. PMID:27564311
Epigenetic contribution of the myosin light chain kinase gene to the risk for acute respiratory distress syndrome. PMID:27543902
Genetic Risk Can Be Decreased: Quitting Smoking Decreases and Delays Lung Cancer for Smokers With High and Low CHRNA5 Risk Genotypes - A Meta-Analysis. PMID:27543155
Genetic Misdiagnoses and the Potential for Health Disparities. PMID:27532831
The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. PMID:27528123
Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133). PMID:27516204
Contrasting origin of B chromosomes in two cervids (Siberian roe deer and grey brocket deer) unravelled by chromosome-specific DNA sequencing. PMID:27516089
Stratification of responders towards eculizumab using a structural epitope mapping strategy. PMID:27509843
Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat. PMID:27506932
SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations. PMID:27489955
Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions. PMID:27482468
Genomic characterization of response to chemoradiation in urothelial bladder cancer. PMID:27479538
Gene-Disease Interaction Retrieval from Multiple Sources: A Network Based Method. PMID:27478829
A Multi-scale Computational Platform to Mechanistically Assess the Effect of Genetic Variation on Drug Responses in Human Erythrocyte Metabolism. PMID:27467583
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine. PMID:27460824
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. PMID:27456059
Evaluating the necessity of PCR duplicate removal from next-generation sequencing data and a comparison of approaches. PMID:27454357
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations. PMID:27449771
Missense Mutation of Brain Derived Neurotrophic Factor (BDNF) Alters Neurocognitive Performance in Patients with Mild Traumatic Brain Injury: A Longitudinal Study. PMID:27438599
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PMID:27438001
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. PMID:27435932
PI3K/Akt/mTOR Signaling and Plasma Membrane Proteins Are Implicated in Responsiveness to Adjuvant Dendritic Cell Vaccination for Metastatic Colorectal Cancer. PMID:27435399
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. PMID:27427983
TMC-SNPdb: an Indian germline variant database derived from whole exome sequences. PMID:27402678
Notch pathway activation is essential for maintenance of stem-like cells in early tongue cancer. PMID:27391340
A comprehensive in silico analysis of non-synonymous and regulatory SNPs of human MBL2 gene. PMID:27390651
Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions. PMID:27386756
Analysis of chromosomal aberrations and recombination by allelic bias in RNA-Seq. PMID:27385103
Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium. PMID:27381324
How genetics works? An illustrative case report. PMID:27380984
VarI-SIG 2015: methods for personalized medicine - the role of variant interpretation in research and diagnostics. PMID:27357578
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. PMID:27357428
Long-read sequencing and de novo assembly of a Chinese genome. PMID:27356984
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. PMID:27353517
Use of high-density SNP data to identify patterns of diversity and signatures of selection in broiler chickens. PMID:27349343
Genome-Wide Detection of CNVs and Their Association with Meat Tenderness in Nelore Cattle. PMID:27348523
Dynamic regulation of RNA editing in human brain development and disease. PMID:27348216
Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients. PMID:27347161
QuIN: A Web Server for Querying and Visualizing Chromatin Interaction Networks. PMID:27336171
Mutations in HECW2 are associated with intellectual disability and epilepsy. PMID:27334371
No associations of a set of SNPs in the Vascular Endothelial Growth Factor (VEGF) and Matrix Metalloproteinase (MMP) genes with survival of colorectal cancer patients. PMID:27334288
In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene. PMID:27331020
A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment. PMID:27328812
Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia. PMID:27322744
PhenoScanner: a database of human genotype-phenotype associations. PMID:27318201
Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients. PMID:27316669
PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders. PMID:27310656
Long noncoding RNA variations in cardiometabolic diseases. PMID:27305986
Impacts of Nonsynonymous Single Nucleotide Polymorphisms of Adiponectin Receptor 1 Gene on Corresponding Protein Stability: A Computational Approach. PMID:27294143
Spatial niche formation but not malignant progression is a driving force for intratumoural heterogeneity. PMID:27291893
Evidence for a quadruplex structure in the polymorphic hs1.2 enhancer of the immunoglobulin heavy chain 3' regulatory regions and its conservation in mammals. PMID:27287611
Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. PMID:27270698
How far from the SNP may the causative genes be? PMID:27269582
The Ensembl Variant Effect Predictor. PMID:27268795
Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. PMID:27262462
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians. PMID:27260402
Somatic mutations in histiocytic sarcoma identified by next generation sequencing. PMID:27259537
The Genetics of Success: How Single-Nucleotide Polymorphisms Associated With Educational Attainment Relate to Life-Course Development. PMID:27251486
Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome. PMID:27251404
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. PMID:27245440
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. PMID:27231142
Rare intronic variants of TCF7L2 arising by selective sweeps in an indigenous population from Mexico. PMID:27230431
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. PMID:27225849
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions. PMID:27224906
Nonoverlapping Clinical and Mutational Patterns in Melanomas from the Female Genital Tract and Atypical Genital Nevi. PMID:27220476
Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR. PMID:27217716
Clinical-pharmacogenetic predictive models for MTX discontinuation due to adverse events in rheumatoid arthritis. PMID:27217051
Striking Immune Phenotypes in Gene-Targeted Mice Are Driven by a Copy-Number Variant Originating from a Commercially Available C57BL/6 Strain. PMID:27210752
Identification of human RNA editing sites: A historical perspective. PMID:27208508
Association of schizophrenia with the rs821633 polymorphism in the DISC1 gene among Han Chinese. PMID:27199526
Construction and Annotation of a High Density SNP Linkage Map of the Atlantic Salmon (Salmo salar) Genome. PMID:27194803
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. PMID:27190017
A web resource for mining HLA associations with adverse drug reactions: HLA-ADR. PMID:27189608
The antitumor toxin CD437 is a direct inhibitor of DNA polymerase α. PMID:27182663
Patient-specific factors influence somatic variation patterns in von Hippel-Lindau disease renal tumours. PMID:27174753
Computational approaches for predicting mutant protein stability. PMID:27160393
Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb. PMID:27158917
High-performance web services for querying gene and variant annotation. PMID:27154141
PinSnps: structural and functional analysis of SNPs in the context of protein interaction networks. PMID:27153707
Ferret: a user-friendly Java tool to extract data from the 1000 Genomes Project. PMID:27153588
A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach. PMID:27152669
StructMAn: annotation of single-nucleotide polymorphisms in the structural context. PMID:27150811
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. PMID:27148569
Whole-genome sequencing of a malignant granular cell tumor with metabolic response to pazopanib. PMID:27148567
RNAex: an RNA secondary structure prediction server enhanced by high-throughput structure-probing data. PMID:27137891
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease. PMID:27135400
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. PMID:27132593
G-DOC Plus - an integrative bioinformatics platform for precision medicine. PMID:27130330
Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes. PMID:27114920
Molecular evolution of WDR62, a gene that regulates neocorticogenesis. PMID:27114917
Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study. PMID:27107574
g:Profiler-a web server for functional interpretation of gene lists (2016 update). PMID:27098042
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
Identification and Evolutionary Analysis of Potential Candidate Genes in a Human Eating Disorder. PMID:27088090
ProViz-a web-based visualization tool to investigate the functional and evolutionary features of protein sequences. PMID:27085803
Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. PMID:27082954
An NGS Workflow Blueprint for DNA Sequencing Data and Its Application in Individualized Molecular Oncology. PMID:27081306
Molecular basis of the STIL coiled coil oligomerization explains its requirement for de-novo formation of centrosomes in mammalian cells. PMID:27075531
Structural insights and functional implications of inter-individual variability in β2-adrenergic receptor. PMID:27075228
BRONCO: Biomedical entity Relation ONcology COrpus for extracting gene-variant-disease-drug relations. PMID:27074804
Polymorphisms of Estrogen Metabolism-Related Genes and Prostate Cancer Risk in Two Populations of African Ancestry. PMID:27074016
DiMeX: A Text Mining System for Mutation-Disease Association Extraction. PMID:27073839
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. PMID:27072799
Reference genotype and exome data from an Australian Aboriginal population for health-based research. PMID:27070114
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. PMID:27066515
Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos. PMID:27062923
Reversal of DNA damage induced Topoisomerase 2 DNA-protein crosslinks by Tdp2. PMID:27060144
Long non-coding RNA Databases in Cardiovascular Research. PMID:27049585
EAGER: efficient ancient genome reconstruction. PMID:27036623
Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development. PMID:27035284
Alteration of microRNA expression in cerebrospinal fluid of unconscious patients after traumatic brain injury and a bioinformatic analysis of related single nucleotide polymorphisms. PMID:27033266
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. PMID:27030474
Transcript Isoform Variation Associated with Cytosine Modification in Human Lymphoblastoid Cell Lines. PMID:27029734
An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays. PMID:27029637
Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC). PMID:27026620
Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing. PMID:27023146
Gene-based aggregate SNP associations between candidate AD genes and cognitive decline. PMID:27005436
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. PMID:27001614
"Islands of Divergence" in the Atlantic Cod Genome Represent Polymorphic Chromosomal Rearrangements. PMID:26983822
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease. PMID:26981328
Genome-wide discovered psychosis-risk gene ZNF804A impacts on white matter microstructure in health, schizophrenia and bipolar disorder. PMID:26966642
Transcriptomes of Plant Gametophytes Have a Higher Proportion of Rapidly Evolving and Young Genes than Sporophytes. PMID:26956888
SNP2Structure: A Public and Versatile Resource for Mapping and Three-Dimensional Modeling of Missense SNPs on Human Protein Structures. PMID:26949480
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
Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations. PMID:26928227
Improvement in detection of minor alleles in next generation sequencing by base quality recalibration. PMID:26920804
Harmonizing the interpretation of genetic variants across the world: the Malaysian experience. PMID:26915360
Genetic diversity, linkage disequilibrium, population structure and construction of a core collection of Prunus avium L. landraces and bred cultivars. PMID:26912051
Human genetic variation database, a reference database of genetic variations in the Japanese population. PMID:26911352
Decontamination by Persteril 36 may affect the reliability of DNA-based detection of biological warfare agents-short communication. PMID:26910525
Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. PMID:26906009
Featured Article: Genotation: Actionable knowledge for the scientific reader. PMID:26900164
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. PMID:26893459
An open access pilot freely sharing cancer genomic data from participants in Texas. PMID:26882539
Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair. PMID:26876963
Exome sequencing in one family with gastric- and rectal cancer. PMID:26872740
An integrated in silico approach for functional and structural impact of non- synonymous SNPs in the MYH1 gene in Jeju Native Pigs. PMID:26847462
Erosion of Conserved Binding Sites in Personal Genomes Points to Medical Histories. PMID:26845687
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. PMID:26842889
MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics. PMID:26840129
Different evolutionary patterns of SNPs between domains and unassigned regions in human protein-coding sequences. PMID:26833483
DOMMINO 2.0: integrating structurally resolved protein-, RNA-, and DNA-mediated macromolecular interactions. PMID:26827237
In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene. PMID:26824843
Genetic variations in GPSM3 associated with protection from rheumatoid arthritis affect its transcript abundance. PMID:26821282
Genetic and functional analysis of a Li Fraumeni syndrome family in China. PMID:26818906
Predicting transcription factor site occupancy using DNA sequence intrinsic and cell-type specific chromatin features. PMID:26818008
Impact of germline and somatic missense variations on drug binding sites. PMID:26810135
Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation. PMID:26804919
BISQUE: locus- and variant-specific conversion of genomic, transcriptomic and proteomic database identifiers. PMID:26803163
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. PMID:26788541
New observations on maternal age effect on germline de novo mutations. PMID:26781218
A novel heat shock protein alpha 8 (Hspa8) molecular network mediating responses to stress- and ethanol-related behaviors. PMID:26780340
AURA 2: Empowering discovery of post-transcriptional networks. PMID:26779400
Assessment of megabase-scale somatic copy number variation using single-cell sequencing. PMID:26772196
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. PMID:26764160
Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia. PMID:26755827
Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts. PMID:26746786
Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time. PMID:26735923
Tripartite degrons confer diversity and specificity on regulated protein degradation in the ubiquitin-proteasome system. PMID:26732515
A Bayesian Model for SNP Discovery Based on Next-Generation Sequencing Data. PMID:26726304
Characterizing gene-gene interactions in a statistical epistasis network of twelve candidate genes for obesity. PMID:26715945
Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines. PMID:26714498
Targeting PTPRK-RSPO3 colon tumours promotes differentiation and loss of stem-cell function. PMID:26700806
Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation. PMID:26699896
Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters. PMID:26694100
The evolution of Homo sapiens denisova and Homo sapiens neanderthalensis miRNA targeting genes in the prenatal and postnatal brain. PMID:26693966
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. PMID:26691988
Dintor: functional annotation of genomic and proteomic data. PMID:26691694
Ensembl 2016. PMID:26687719
Mannose-binding lectin protein and its association to clinical outcomes in COPD: a longitudinal study. PMID:26684757
Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR). PMID:26683685
Targeted next-generation sequencing panel (GlioSeq) provides comprehensive genetic profiling of central nervous system tumors. PMID:26681766
Balancing Protein Stability and Activity in Cancer: A New Approach for Identifying Driver Mutations Affecting CBL Ubiquitin Ligase Activation. PMID:26676746
Proteogenomics from a bioinformatics angle: A growing field. PMID:26670565
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations. PMID:26659599
Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer. PMID:26658419
HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. PMID:26657631
Distinct X-chromosome SNVs from some sporadic AD samples. PMID:26648445
Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes. PMID:26645365
Selection of highly informative SNP markers for population affiliation of major US populations. PMID:26645290
Complete re-sequencing of a 2Mb topological domain encompassing the FTO/IRXB genes identifies a novel obesity-associated region upstream of IRX5. PMID:26642925
Identification of Low-Confidence Regions in the Pig Reference Genome (Sscrofa10.2). PMID:26640477
MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours. PMID:26635203
A Toll-like receptor-1 variant and its characteristic cellular phenotype is associated with severe malaria in Papua New Guinean children. PMID:26633000
Evaluation of preprocessing, mapping and postprocessing algorithms for analyzing whole genome bisulfite sequencing data. PMID:26628557
Disrupted lymphocyte homeostasis in hepatitis-associated acquired aplastic anemia is associated with short telomeres. PMID:26615915
Database resources of the National Center for Biotechnology Information. PMID:26615191
From Single Variants to Protein Cascades: MULTISCALE MODELING OF SINGLE NUCLEOTIDE VARIANT SETS IN GENETIC DISORDERS. PMID:26601959
The UCSC Genome Browser database: 2016 update. PMID:26590259
Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease. PMID:26580603
BioGPS: building your own mash-up of gene annotations and expression profiles. PMID:26578587
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. PMID:26578203
Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility. PMID:26577090
Integrated genomics approach to identify biologically relevant alterations in fewer samples. PMID:26572163
The effects of long-term daily folic acid and vitamin B12 supplementation on genome-wide DNA methylation in elderly subjects. PMID:26568774
GEneSTATION 1.0: a synthetic resource of diverse evolutionary and functional genomic data for studying the evolution of pregnancy-associated tissues and phenotypes. PMID:26567549
Knowledge-based analysis of functional impacts of mutations in microRNA seed regions. PMID:26564979
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs. PMID:26555599
Mutational Profiling Can Establish Clonal or Independent Origin in Synchronous Bilateral Breast and Other Tumors. PMID:26554380
A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin. PMID:26545630
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. PMID:26542245
Identification and functional studies of regulatory variants responsible for the association of NRG3 with a delusion phenotype in schizophrenia. PMID:26528484
Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus. PMID:26526993
Genes with stable DNA methylation levels show higher evolutionary conservation than genes with fluctuant DNA methylation levels. PMID:26515589
MDP, a database linking drug response data to genomic information, identifies dasatinib and statins as a combinatorial strategy to inhibit YAP/TAZ in cancer cells. PMID:26513174
A mutational signature in gastric cancer suggests therapeutic strategies. PMID:26511885
rVarBase: an updated database for regulatory features of human variants. PMID:26503253
Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo. PMID:26502339
Virtual Pharmacist: A Platform for Pharmacogenomics. PMID:26496198
Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment. PMID:26494363
GREM1 and POLE variants in hereditary colorectal cancer syndromes. PMID:26493165
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. PMID:26488408
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. PMID:26486469
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis. PMID:26484159
Identification of deleterious nsSNPs in α, μ, π and θ class of GST family and their influence on protein structure. PMID:26484073
Bovine Genome Database: new tools for gleaning function from the Bos taurus genome. PMID:26481361
Current and Future Prospects for Epigenetic Biomarkers of Substance Use Disorders. PMID:26473933
Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data. PMID:26459872
Comparative genome-wide association studies of a depressive symptom phenotype in a repeated measures setting by race/ethnicity in the Multi-Ethnic Study of Atherosclerosis. PMID:26459564
Exploring the association between a cholecystokinin promoter polymorphism (rs1799923) and posttraumatic stress disorder in combat veterans. PMID:26454231
Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales. PMID:26454016
LymAnalyzer: a tool for comprehensive analysis of next generation sequencing data of T cell receptors and immunoglobulins. PMID:26446988
Ethnicity and Smoking-Associated DNA Methylation Changes at HIV Co-Receptor GPR15. PMID:26441693
Full-length nucleotide sequences of 30 common SLC44A2 alleles encoding human neutrophil antigen-3. PMID:26437811
Genomic landscapes of breast fibroepithelial tumors. PMID:26437033
Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults. PMID:26436109
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. PMID:26436107
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1. PMID:26435059
TLR1, 2, 4, 6 and 9 Variants Associated with Tuberculosis Susceptibility: A Systematic Review and Meta-Analysis. PMID:26430737
Heterogeneous Mechanisms of Secondary Resistance and Clonal Selection in Sarcoma during Treatment with Nutlin. PMID:26427052
The Silent Sway of Splicing by Synonymous Substitutions. PMID:26424794
Clonal dynamics in a single AML case tracked for 9 years reveals the complexity of leukemia progression. PMID:26424407
Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance. PMID:26395002
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease. PMID:26394720
Association of single nucleotide polymorphisms in IL8 and IL13 with sunitinib-induced toxicity in patients with metastatic renal cell carcinoma. PMID:26387812
An ensemble approach to accurately detect somatic mutations using SomaticSeq. PMID:26381235
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. PMID:26379229
Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1. PMID:26377631
Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. PMID:26369774
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. PMID:26366554
Computational approaches to study the effects of small genomic variations. PMID:26350246
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. PMID:26338694
Translational control by lysine-encoding A-rich sequences. PMID:26322332
Anatomy of protein disorder, flexibility and disease-related mutations. PMID:26322316
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. PMID:26315209
Increasing Nucleosome Occupancy Is Correlated with an Increasing Mutation Rate so Long as DNA Repair Machinery Is Intact. PMID:26308346
FAPI: Fast and accurate P-value Imputation for genome-wide association study. PMID:26306642
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. PMID:26296701
Structural modeling and in silico analysis of non-synonymous single nucleotide polymorphisms of human 3β-hydroxysteroid dehydrogenase type 2. PMID:26288759
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. PMID:26284702
Analysing the Effect of Mutation on Protein Function and Discovering Potential Inhibitors of CDK4: Molecular Modelling and Dynamics Studies. PMID:26252490
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. PMID:26247046
Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL. PMID:26236721
Comparison against 186 canid whole-genome sequences reveals survival strategies of an ancient clonally transmissible canine tumor. PMID:26232412
A guide on gene prioritization in studies of psychiatric disorders. PMID:26230968
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PMID:26230511
Improving the Sequence Ontology terminology for genomic variant annotation. PMID:26229585
OCDB: a database collecting genes, miRNAs and drugs for obsessive-compulsive disorder. PMID:26228432
BMD Loci Contribute to Ethnic and Developmental Differences in Skeletal Fragility across Populations: Assessment of Evolutionary Selection Pressures. PMID:26226985
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function. PMID:26224785
Canonical, stable, general mapping using context schemes. PMID:26220960
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants. PMID:26214305
Discriminating somatic and germline mutations in tumor DNA samples without matching normals. PMID:26209359
GESPA: classifying nsSNPs to predict disease association. PMID:26206375
Implementation of a Molecular Tumor Board: The Impact on Treatment Decisions for 35 Patients Evaluated at Dartmouth-Hitchcock Medical Center. PMID:26205736
Runs of homozygosity and distribution of functional variants in the cattle genome. PMID:26198692
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. PMID:26198474
Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease. PMID:26193622
Paired exome analysis of Barrett's esophagus and adenocarcinoma. PMID:26192918
BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms. PMID:26191084
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability. PMID:26181491
Mutation-induced protein interaction kinetics changes affect apoptotic network dynamic properties and facilitate oncogenesis. PMID:26170328
Individual and Combined Associations of Genetic Variants in CYP3A4, CYP3A5, and SLCO1B1 With Simvastatin and Simvastatin Acid Plasma Concentrations. PMID:26164721
BSPAT: a fast online tool for DNA methylation co-occurrence pattern analysis based on high-throughput bisulfite sequencing data. PMID:26163275
Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions. PMID:26162851
How to build personalized multi-omics comorbidity profiles. PMID:26157799
Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care. PMID:26155992
Novel scripts for improved annotation and selection of variants from whole exome sequencing in cancer research. PMID:26150983
Advanced Proteogenomic Analysis Reveals Multiple Peptide Mutations and Complex Immunoglobulin Peptides in Colon Cancer. PMID:26139413
DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation. PMID:26137478
The Mouse Genomes Project: a repository of inbred laboratory mouse strain genomes. PMID:26123534
Mitochondrial DNA polymorphisms, its copy number change and outcome in colorectal cancer. PMID:26116242
Conditional entropy in variation-adjusted windows detects selection signatures associated with expression quantitative trait loci (eQTLs). PMID:26111110
Computational methods and resources for the interpretation of genomic variants in cancer. PMID:26111056
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing. PMID:26110913
Disease-associated variants in different categories of disease located in distinct regulatory elements. PMID:26110593
VarI-SIG 2014--From SNPs to variants: interpreting different types of genetic variants. PMID:26110281
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. PMID:26102509
Comprehensive translational control of tyrosine kinase expression by upstream open reading frames. PMID:26096937
Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort. PMID:26084464
Single-cell mRNA sequencing identifies subclonal heterogeneity in anti-cancer drug responses of lung adenocarcinoma cells. PMID:26084335
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease. PMID:26077851
Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC. PMID:26076459
NF1 Mutations Are Common in Desmoplastic Melanoma. PMID:26076063
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. PMID:26075876
Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss. PMID:26075227
MSProGene: integrative proteogenomics beyond six-frames and single nucleotide polymorphisms. PMID:26072472
Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer. PMID:26071483
A Survival Association Study of 102 Polymorphisms Previously Associated with Survival Outcomes in Colorectal Cancer. PMID:26064972
Redesigning protein cavities as a strategy for increasing affinity in protein-protein interaction: interferon- γ receptor 1 as a model. PMID:26060819
PCSK5 mutation in a patient with the VACTERL association. PMID:26055999
Polymorphism Analysis Reveals Reduced Negative Selection and Elevated Rate of Insertions and Deletions in Intrinsically Disordered Protein Regions. PMID:26047845
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. PMID:26047050
Detection and analysis of disease-associated single nucleotide polymorphism influencing post-translational modification. PMID:26043787
PANDA: pathway and annotation explorer for visualizing and interpreting gene-centric data. PMID:26038725
Identification of genomic regions associated with female fertility in Danish Jersey using whole genome sequence data. PMID:26036962
The FNTB promoter polymorphism rs11623866 as a potential predictive biomarker for lonafarnib treatment of ovarian cancer patients. PMID:26033044
Sites of instability in the human TCF3 (E2A) gene adopt G-quadruplex DNA structures in vitro. PMID:26029241
Using whole-genome sequences of the LG/J and SM/J inbred mouse strains to prioritize quantitative trait genes and nucleotides. PMID:26016481
NIG_MoG: a mouse genome navigator for exploring intersubspecific genetic polymorphisms. PMID:26013919
Requirement for BUB1B/BUBR1 in tumor progression of lung adenocarcinoma. PMID:26000094
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. PMID:25996639
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? PMID:25994865
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. PMID:25991456
Genetic variability in GLP-1 receptor is associated with inter-individual differences in weight lowering potential of liraglutide in obese women with PCOS: a pilot study. PMID:25991051
Multidimensional gene search with Genehopper. PMID:25990726
Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition. PMID:25982422
Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network. PMID:25982363
De novo point mutations in patients diagnosed with ataxic cerebral palsy. PMID:25981959
DBDiaSNP: An Open-Source Knowledgebase of Genetic Polymorphisms and Resistance Genes Related to Diarrheal Pathogens. PMID:25978092
Sequence variants from whole genome sequencing a large group of Icelanders. PMID:25977816
DIANA-miRPath v3.0: deciphering microRNA function with experimental support. PMID:25977294
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. PMID:25976726
Human Enhancers Are Fragile and Prone to Deactivating Mutations. PMID:25976354
Integrating transcriptome and genome re-sequencing data to identify key genes and mutations affecting chicken eggshell qualities. PMID:25974068
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. PMID:25973577
Heterospecific SNP diversity in humans and rhesus macaque (Macaca mulatta). PMID:25963897
Duplex stem-loop-containing quadruplex motifs in the human genome: a combined genomic and structural study. PMID:25958397
CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. PMID:25942481
Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PMID:25942438
Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families. PMID:25941542
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. PMID:25939664
PGMD: a comprehensive manually curated pharmacogenomic database. PMID:25939485
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. PMID:25938801
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. PMID:25934493
Identifying genes that mediate anthracyline toxicity in immune cells. PMID:25926793
Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. PMID:25921236
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. PMID:25920557
Integrative Analysis of CRISPR/Cas9 Target Sites in the Human HBB Gene. PMID:25918715
Cis-regulatory somatic mutations and gene-expression alteration in B-cell lymphomas. PMID:25903198
The uniform-score gene set analysis for identifying common pathways associated with different diabetes traits. PMID:25898945
Exome analysis of patients with concurrent pediatric inflammatory bowel disease and autoimmune disease. PMID:25895113
BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data. PMID:25893845
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. PMID:25891276
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan. PMID:25887915
Single-cell analysis of lung adenocarcinoma cell lines reveals diverse expression patterns of individual cells invoked by a molecular target drug treatment. PMID:25887790
GRACOMICS: software for graphical comparison of multiple results with omics data. PMID:25887412
Rare variants in MYD88, IRAK4 and IKBKG and susceptibility to invasive pneumococcal disease: a population-based case-control study. PMID:25886387
Genetics and the placebo effect: the placebome. PMID:25883069
ReMo-SNPs: a new software tool for identification of polymorphisms in regions and motifs genome-wide. PMID:25882789
Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies. PMID:25880555
A simple strategy for reducing false negatives in calling variants from single-cell sequencing data. PMID:25876174
Can data science inform environmental justice and community risk screening for type 2 diabetes? PMID:25875676
CHRNA5 risk variant predicts delayed smoking cessation and earlier lung cancer diagnosis--a meta-analysis. PMID:25873736
A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. PMID:25866641
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. PMID:25860647
Transcriptome-wide identification of adenosine-to-inosine editing using the ICE-seq method. PMID:25855956
PAX5 is a tumor suppressor in mouse mutagenesis models of acute lymphoblastic leukemia. PMID:25855603
Alström Syndrome: Mutation Spectrum of ALMS1. PMID:25846608
A thesaurus of genetic variation for interrogation of repetitive genomic regions. PMID:25820428
Halvade: scalable sequence analysis with MapReduce. PMID:25819078
SCAN database: facilitating integrative analyses of cytosine modification and expression QTL. PMID:25818895
Demonstration of the presence of the "deleted" MIR122 gene in HepG2 cells. PMID:25811611
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. PMID:25804400
Personal genomes, quantitative dynamic omics and personalized medicine. PMID:25798291
Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. PMID:25790163
VaRank: a simple and powerful tool for ranking genetic variants. PMID:25780760
Using network clustering to predict copy number variations associated with health disparities. PMID:25780754
Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens. PMID:25775023
Genetics and brain morphology. PMID:25773500
Enhanced ratio of signals enables digital mutation scanning for rare allele detection. PMID:25772705
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry. PMID:25765185
Genome wide expression profiling of p53 regulated miRNAs in neuroblastoma. PMID:25762502
DivStat: a user-friendly tool for single nucleotide polymorphism analysis of genomic diversity. PMID:25756185
Reducing the search space for causal genetic variants with VASP. PMID:25755272
Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing. PMID:25751143
Whole genome analysis of a Vietnamese trio. PMID:25740146
A somatic MAP3K3 mutation is associated with verrucous venous malformation. PMID:25728774
EpiToolKit--a web-based workbench for vaccine design. PMID:25712691
Biological databases for human research. PMID:25712261
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. PMID:25711638
MixClone: a mixture model for inferring tumor subclonal populations. PMID:25707430
Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver. PMID:25706643
Oncotator: cancer variant annotation tool. PMID:25703262
Unified representation of genetic variants. PMID:25701572
Intermediate DNA methylation is a conserved signature of genome regulation. PMID:25691127
Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity. PMID:25687726
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. PMID:25684150
Association of microRNA 17-92 cluster host gene (MIR17HG) polymorphisms with breast cancer. PMID:25680407
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes. PMID:25679214
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). PMID:25677497
Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors. PMID:25670082
Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency. PMID:25667416
Polymorphism in the serotonin receptor 2a (HTR2A) gene as possible predisposal factor for aggressive traits. PMID:25658328
Supporting interoperability of genetic data with LOINC. PMID:25656513
An integrated approach for analyzing clinical genomic variant data from next-generation sequencing. PMID:25649353
Integrative genomics and transcriptomics analysis of human embryonic and induced pluripotent stem cells. PMID:25649046
Coordinated regulatory variation associated with gestational hyperglycaemia regulates expression of the novel hexokinase HKDC1. PMID:25648650
PON-P2: prediction method for fast and reliable identification of harmful variants. PMID:25647319
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. PMID:25646853
Development of genodynamic metrics for exploring the biophysics of DNA polymorphisms. PMID:25642351
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease. PMID:25637650
Comprehensive genomic characterization of head and neck squamous cell carcinomas. PMID:25631445
The association of ADORA2A and ADORA2B polymorphisms with the risk and severity of chronic heart failure: a case-control study of a northern Chinese population. PMID:25629231
New genetic variants of LATS1 detected in urinary bladder and colon cancer. PMID:25628642
DNA methylation patterns in newborns exposed to tobacco in utero. PMID:25623364
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. PMID:25604157
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. PMID:25569433
Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses. PMID:25569235
Genome-wide discovery of human splicing branchpoints. PMID:25561518
EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization. PMID:25550428
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. PMID:25548800
Whole genome sequence analysis suggests intratumoral heterogeneity in dissemination of breast cancer to lymph nodes. PMID:25546409
Polymorphisms in DNA repair genes and breast cancer risk in Russian population: a case-control study. PMID:25537147
Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease. PMID:25528190
Comparison of custom capture for targeted next-generation DNA sequencing. PMID:25528188
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. PMID:25525159
Coronary artery aneurysms occurrence risk analysis between Kawasaki disease and LRP1B gene in Taiwanese children. PMID:25520923
Polymorphisms in key pulmonary inflammatory pathways and the development of acute respiratory distress syndrome. PMID:25513711
PROTEOFORMER: deep proteome coverage through ribosome profiling and MS integration. PMID:25510491
HGV&TB: a comprehensive online resource on human genes and genetic variants associated with tuberculosis. PMID:25502817
ABCB1 (MDR1) predicts remission on P-gp substrates in chronic depression. PMID:25487678
Genetic variants of glutamate receptor gene family in Taiwanese Kawasaki disease children with coronary artery aneurysms. PMID:25485088
Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. PMID:25479140
Optimizing the sequence of anti-EGFR-targeted therapy in EGFR-mutant lung cancer. PMID:25477325
From genome-wide to candidate gene: an investigation of variation at the major histocompatibility complex in common bottlenose dolphins exposed to harmful algal blooms. PMID:25475909
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. PMID:25472526
FLAGS, frequently mutated genes in public exomes. PMID:25466818
Toll-like receptor polymorphisms in allogeneic hematopoietic cell transplantation. PMID:25464115
Using RNA sequencing for identifying gene imprinting and random monoallelic expression in human placenta. PMID:25437054
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. PMID:25431634
The UCSC Genome Browser database: 2015 update. PMID:25428374
In silico Derivation of HLA-Specific Alloreactivity Potential from Whole Exome Sequencing of Stem-Cell Transplant Donors and Recipients: Understanding the Quantitative Immunobiology of Allogeneic Transplantation. PMID:25414699
The IPD and IMGT/HLA database: allele variant databases. PMID:25414341
ProteomeScout: a repository and analysis resource for post-translational modifications and proteins. PMID:25414335
Human ALDH1B1 polymorphisms may affect the metabolism of acetaldehyde and all-trans retinaldehyde--in vitro studies and computational modeling. PMID:25413692
Single-Tube Mutation Scanning of The Epidermal Growth Factor Receptor Gene Using Multiplex LATE-PCR and Lights-On/Lights-Off Probes. PMID:25411647
RADIA: RNA and DNA integrated analysis for somatic mutation detection. PMID:25405470
Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. PMID:25401301
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A. PMID:25400662
Environmental and genetic contributors to salivary testosterone levels in infants. PMID:25400620
Systematic identification of single amino acid variants in glioma stem-cell-derived chromosome 19 proteins. PMID:25399873
Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects. PMID:25399050
Database resources of the National Center for Biotechnology Information. PMID:25398906
CMPD: cancer mutant proteome database. PMID:25398898
Detection theory in identification of RNA-DNA sequence differences using RNA-sequencing. PMID:25396741
Evaluation of an integrated clinical workflow for targeted next-generation sequencing of low-quality tumor DNA using a 51-gene enrichment panel. PMID:25395014
Text mining in cancer gene and pathway prioritization. PMID:25392685
Whole-genome sequencing of the world's oldest people. PMID:25390934
Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes. PMID:25378555
Aberrant transcriptional regulations in cancers: genome, transcriptome and epigenome analysis of lung adenocarcinoma cell lines. PMID:25378332
Associating disease-related genetic variants in intergenic regions to the genes they impact. PMID:25374782
Cervical cancer-associated promoter polymorphism affects akna expression levels. PMID:25373726
Human cancer databases (review). PMID:25369839
VaDE: a manually curated database of reproducible associations between various traits and human genomic polymorphisms. PMID:25361969
Genetic determinants of on-aspirin platelet reactivity: focus on the influence of PEAR1. PMID:25360888
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. PMID:25356970
Gene: a gene-centered information resource at NCBI. PMID:25355515
VariantDB: a flexible annotation and filtering portal for next generation sequencing data. PMID:25352915
Genetic mutations in sporadic pituitary adenomas--what to screen for? PMID:25350067
Single nucleotide polymorphisms in noncoding regions of Rad51C do not change the risk of unselected breast cancer but they modulate the level of oxidative stress and the DNA damage characteristics: a case-control study. PMID:25343521
TAS2R bitter taste receptors regulate thyroid function. PMID:25342133
Germline mutations in MAP3K6 are associated with familial gastric cancer. PMID:25340522
Nuclear and mitochondrial tRNA-lookalikes in the human genome. PMID:25339973
Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance. PMID:25339461
Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation. PMID:25336616
Metastatic tumor evolution and organoid modeling implicate TGFBR2 as a cancer driver in diffuse gastric cancer. PMID:25315765
Executing SADI services in Galaxy. PMID:25309716
VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants. PMID:25306238
Genetic variation within the histamine pathway among patients with asthma--a pilot study. PMID:25295384
SNPest: a probabilistic graphical model for estimating genotypes. PMID:25294605
Detailed comparison of two popular variant calling packages for exome and targeted exon studies. PMID:25289185
CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects. PMID:25281234
RiceVarMap: a comprehensive database of rice genomic variations. PMID:25274737
H3K4me1 marks DNA regions hypomethylated during aging in human stem and differentiated cells. PMID:25271306
Mouse ENU Mutagenesis to Understand Immunity to Infection: Methods, Selected Examples, and Perspectives. PMID:25268389
Association of OPRM1 A118G variant with risk of morphine-induced respiratory depression following spine fusion in adolescents. PMID:25266679
Proteogenomic strategies for identification of aberrant cancer peptides using large-scale next-generation sequencing data. PMID:25263569
A single nucleotide polymorphism in osteonectin 3' untranslated region regulates bone volume and is targeted by miR-433. PMID:25262637
Association of Toll-like receptor polymorphisms with HIV status in North Americans. PMID:25253287
Clonal evolution revealed by whole genome sequencing in a case of primary myelofibrosis transformed to secondary acute myeloid leukemia. PMID:25252869
Hybrid curation of gene-mutation relations combining automated extraction and crowdsourcing. PMID:25246425
Sequencing pools of individuals - mining genome-wide polymorphism data without big funding. PMID:25246196
High-resolution genetic mapping of complex traits from a combined analysis of F2 and advanced intercross mice. PMID:25236452
Single nucleotide variations: biological impact and theoretical interpretation. PMID:25234433
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. PMID:25233904
Long non-coding RNAs as a source of new peptides. PMID:25233276
Human germline and pan-cancer variomes and their distinct functional profiles. PMID:25232094
RADB: a database of rheumatoid arthritis-related polymorphisms. PMID:25228593
PDYN, a gene implicated in brain/mental disorders, is targeted by REST in the adult human brain. PMID:25220237
Fine mapping QTL for female fertility on BTA04 and BTA13 in dairy cattle using HD SNP and sequence data. PMID:25216717
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. PMID:25214167
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. PMID:25205116
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. PMID:25190649
Crystal structure of the mineralocorticoid receptor DNA binding domain in complex with DNA. PMID:25188500
Association of exome sequences with plasma C-reactive protein levels in >9000 participants. PMID:25187575
Genome re-sequencing suggested a weedy rice origin from domesticated indica-japonica hybridization: a case study from southern China. PMID:25187076
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. PMID:25186178
Statins and breast cancer prognosis: evidence and opportunities. PMID:25186049
Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA. PMID:25180293
Thoroughbred Horse Single Nucleotide Polymorphism and Expression Database: HSDB. PMID:25178365
Birth weight, working memory and epigenetic signatures in IGF2 and related genes: a MZ twin study. PMID:25171170
Global population-specific variation in miRNA associated with cancer risk and clinical biomarkers. PMID:25169894
An intronic PICALM polymorphism, rs588076, is associated with allelic expression of a PICALM isoform. PMID:25169757
Strategies for imputation to whole genome sequence using a single or multi-breed reference population in cattle. PMID:25164068
ContrastRank: a new method for ranking putative cancer driver genes and classification of tumor samples. PMID:25161249
Diverse modes of genomic alteration in hepatocellular carcinoma. PMID:25159915
Genetic landscape of esophageal squamous cell carcinoma. PMID:25151357
Tracing the evolution of lineage-specific transcription factor binding sites in a birth-death framework. PMID:25144359
A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study. PMID:25142508
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. PMID:25137622
Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients. PMID:25136576
Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia. PMID:25134189
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. PMID:25133958
Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing. PMID:25133774
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping. PMID:25129690
Ring finger protein 39 genetic variants associate with HIV-1 plasma viral loads and its replication in cell culture. PMID:25126410
HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations. PMID:25123903
A comprehensive survey of non-canonical splice sites in the human transcriptome. PMID:25123659
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. PMID:25119684
Available resources and challenges for the clinical annotation of somatic variations. PMID:25111663
Illumina sequencing of 15 deafness genes using fragmented amplicons. PMID:25106482
Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene. PMID:25105660
Computational analysis of functional single nucleotide polymorphisms associated with the CYP11B2 gene. PMID:25102047
Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels. PMID:25087611
Phen-Gen: combining phenotype and genotype to analyze rare disorders. PMID:25086502
A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders. PMID:25078076
MutaCYP: Classification of missense mutations in human cytochromes P450. PMID:25073475
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. PMID:25062847
IthaGenes: an interactive database for haemoglobin variations and epidemiology. PMID:25058394
NeEMO: a method using residue interaction networks to improve prediction of protein stability upon mutation. PMID:25057121
SNP-SIG 2013: from coding to non-coding--new approaches for genomic variant interpretation. PMID:25056427
VNTRseek-a computational tool to detect tandem repeat variants in high-throughput sequencing data. PMID:25056320
A single nucleotide polymorphism in the corticotropin receptor gene is associated with a blunted cortisol response during pediatric critical illness. PMID:25055195
Integrating in silico prediction methods, molecular docking, and molecular dynamics simulation to predict the impact of ALK missense mutations in structural perspective. PMID:25054154
sapFinder: an R/Bioconductor package for detection of variant peptides in shotgun proteomics experiments. PMID:25053745
Association of polymorphism harbored by tumor necrosis factor alpha gene and sex of calf with lactation performance in cattle. PMID:25049721
A comprehensive and high-resolution genome-wide response of p53 to stress. PMID:25043190
Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma. PMID:25038752
Mutation and expression analysis in medulloblastoma yields prognostic variants and a putative mechanism of disease for i17q tumors. PMID:25030029
Polymorphisms in human heat shock factor-1 and analysis of potential biological consequences. PMID:25023647
A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1. PMID:25009150
Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability. PMID:25003006
Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing. PMID:24996834
Similarities and differences between exome sequences found in a variety of tissues from the same individual. PMID:24984015
In silico analysis of functional single nucleotide polymorphisms in the human TRIM22 gene. PMID:24983760
Mutational analysis of primary central nervous system lymphoma. PMID:24970810
Conserved microRNA editing in mammalian evolution, development and disease. PMID:24964909
Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. PMID:24951660
Choice of transcripts and software has a large effect on variant annotation. PMID:24944579
Linking the genetic architecture of cytosine modifications with human complex traits. PMID:24943591
GADD45a promoter regulation by a functional genetic variant associated with acute lung injury. PMID:24940746
'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration. PMID:24939193
OccuPeak: ChIP-Seq peak calling based on internal background modelling. PMID:24936875
DNA sequencing and CRISPR-Cas9 gene editing for target validation in mammalian cells. PMID:24929529
Single nucleotide polymorphisms in genes encoding toll-like receptors 7, 8 and 9 in Danish patients with systemic lupus erythematosus. PMID:24919757
Genetic variation in prostaglandin synthesis and related pathways, NSAID use and colorectal cancer risk in the Colon Cancer Family Registry. PMID:24908683
Influence of TCF7L2 gene variants on the therapeutic response to the dipeptidylpeptidase-4 inhibitor linagliptin. PMID:24906949
Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance. PMID:24906912
GWAS in a box: statistical and visual analytics of structured associations via GenAMap. PMID:24905018
Arg389Gly β1-adrenergic receptor polymorphism and susceptibility to syncope during tilt test. PMID:24904655
Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry. PMID:24896259
A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs. PMID:24894379
Low-grade prostate cancer diverges early from high grade and metastatic disease. PMID:24890684
Insulin resistance: regression and clustering. PMID:24887437
Functional annotation signatures of disease susceptibility loci improve SNP association analysis. PMID:24886216
Human FABP1 T94A variant impacts fatty acid metabolism and PPAR-α activation in cultured human female hepatocytes. PMID:24875102
CLImAT: accurate detection of copy number alteration and loss of heterozygosity in impure and aneuploid tumor samples using whole-genome sequencing data. PMID:24845652
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. PMID:24829207
Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods. PMID:24829188
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer. PMID:24807215
Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach. PMID:24805989
A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies. PMID:24803668
The personal genome browser: visualizing functions of genetic variants. PMID:24799434
A mutation in POLE predisposing to a multi-tumour phenotype. PMID:24788313
Allelic expression of deleterious protein-coding variants across human tissues. PMID:24786518
In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes. PMID:24785695
Determining effects of non-synonymous SNPs on protein-protein interactions using supervised and semi-supervised learning. PMID:24784581
Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2). PMID:24773605
A 3'UTR polymorphism modulates mRNA stability of the oncogene and drug target Polo-like Kinase 1. PMID:24767679
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. PMID:24763289
Prediction and prioritization of rare oncogenic mutations in the cancer Kinome using novel features and multiple classifiers. PMID:24743239
A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i). PMID:24742296
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. PMID:24733792
The application of network label propagation to rank biomarkers in genome-wide Alzheimer's data. PMID:24731236
The effects of socioeconomic status, clinical factors, and genetic ancestry on pulmonary tuberculosis disease in northeastern Mexico. PMID:24728409
Why human disease-associated residues appear as the wild-type in other species: genome-scale structural evidence for the compensation hypothesis. PMID:24723421
Prediction and experimental characterization of nsSNPs altering human PDZ-binding motifs. PMID:24722214
Use of long term molecular dynamics simulation in predicting cancer associated SNPs. PMID:24722014
Genetic polymorphisms of dsRNA ligating pattern recognition receptors TLR3, MDA5, and RIG-I. Association with systemic lupus erythematosus and clinical phenotypes. PMID:24719229
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome. PMID:24715754
Impact of genomic polymorphisms on the repertoire of human MHC class I-associated peptides. PMID:24714562
Deconvolving tumor purity and ploidy by integrating copy number alterations and loss of heterozygosity. PMID:24695406
Quantum coupled mutation finder: predicting functionally or structurally important sites in proteins using quantum Jensen-Shannon divergence and CUDA programming. PMID:24694117
Association of interleukin-1 gene variations with moderate to severe chronic periodontitis in multiple ethnicities. PMID:24690098
FISH Oracle 2: a web server for integrative visualization of genomic data in cancer research. PMID:24684958
The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. PMID:24682267
Genetic variation of the whole ICAM4 gene in Caucasians and African Americans. PMID:24673173
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk. PMID:24668907
Bovine exome sequence analysis and targeted SNP genotyping of recessive fertility defects BH1, HH2, and HH3 reveal a putative causative mutation in SMC2 for HH3. PMID:24667746
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. PMID:24667040
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes. PMID:24664876
Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies. PMID:24651380
Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection. PMID:24651212
Contribution of toll-like receptor signaling pathways to breast tumorigenesis and treatment. PMID:24648757
openSNP--a crowdsourced web resource for personal genomics. PMID:24647222
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. PMID:24647030
Targeted next generation sequencing identifies clinically actionable mutations in patients with melanoma. PMID:24628946
Low budget analysis of Direct-To-Consumer genomic testing familial data. PMID:24627758
Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. PMID:24624349
Clinical application of targeted and genome-wide technologies: can we predict treatment responses in chronic lymphocytic leukemia? PMID:24611071
Information compression exploits patterns of genome composition to discriminate populations and highlight regions of evolutionary interest. PMID:24606587
The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell. PMID:24600475
Genetic factors regulating lung vasculature and immune cell functions associate with resistance to pneumococcal infection. PMID:24594938
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2). PMID:24578721
A tool for mapping Single Nucleotide Polymorphisms using Graphics Processing Units. PMID:24564714
Identification of gene fusions from human lung cancer mass spectrometry data. PMID:24564548
Exome-based mapping and variant prioritization for inherited Mendelian disorders. PMID:24560519
Human transporter database: comprehensive knowledge and discovery tools in the human transporter genes. PMID:24558441
Extensive sequence variation in the 3' untranslated region of the KRAS gene in lung and ovarian cancer cases. PMID:24552817
Polymorphisms of MUC16 (CA125) and MUC1 (CA15.3) in relation to ovarian cancer risk and survival. PMID:24551091
Development and validation of a high density SNP genotyping array for Atlantic salmon (Salmo salar). PMID:24524230
Literature mining of genetic variants for curation: quantifying the importance of supplementary material. PMID:24520105
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. PMID:24518672
Identification of functional cooperative mutations of SETD2 in human acute leukemia. PMID:24509477
Single Nucleotide Polymorphism (SNP) Detection and Genotype Calling from Massively Parallel Sequencing (MPS) Data. PMID:24489615
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. PMID:24468074
Significant overlap between human genome-wide association-study nominated breast cancer risk alleles and rat mammary cancer susceptibility loci. PMID:24467842
Bionimbus: a cloud for managing, analyzing and sharing large genomics datasets. PMID:24464852
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. PMID:24462369
MicroRNAs Implicated in Dysregulation of Gene Expression Following Human Lung Transplantation. PMID:24416715
A bioinformatician's guide to the forefront of suffix array construction algorithms. PMID:24413184
tbvar: A comprehensive genome variation resource for Mycobacterium tuberculosis. PMID:24408216
Quantitative prediction of the effect of genetic variation using hidden Markov models. PMID:24405700
Reduced ADAMTS13 activity is associated with an ADAMTS13 SNP, fever and microparticles in a malaria-like model. PMID:24386898
High-throughput sequencing of a South American Amerindian. PMID:24386182
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. PMID:24385928
Comprehensive analysis of transcriptome variation uncovers known and novel driver events in T-cell acute lymphoblastic leukemia. PMID:24367274
A guide to bioinformatics for immunologists. PMID:24363654
Interaction-based discovery of functionally important genes in cancers. PMID:24362839
Genetic determinants of neuroglobin transcription. PMID:24362753
Circ2Traits: a comprehensive database for circular RNA potentially associated with disease and traits. PMID:24339831
Accounting for population variation in targeted proteomics. PMID:24320210
Inactivating CUX1 mutations promote tumorigenesis. PMID:24316979
Ensembl 2014. PMID:24316576
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. PMID:24312468
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis. PMID:24306141
Status quo of annotation of human disease variants. PMID:24305467
Detection limit of intragenic deletions with targeted array comparative genomic hybridization. PMID:24304607
Integrative analysis of two cell lines derived from a non-small-lung cancer patient--a panomics approach. PMID:24297535
Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation. PMID:24296945
Computational optimisation of targeted DNA sequencing for cancer detection. PMID:24296834
An updated meta-analysis of the association between ADIPOQ rs2241766 polymorphism and colorectal cancer. PMID:24293390
Structure-function studies on non-synonymous SNPs of chemokine receptor gene implicated in cardiovascular disease: a computational approach. PMID:24293156
rSNPBase: a database for curated regulatory SNPs. PMID:24285297
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. PMID:24281368
Association between GRIN3A gene polymorphism in Kawasaki disease and coronary artery aneurysms in Taiwanese children. PMID:24278430
Evaluation and identification of damaged single nucleotide polymorphisms in COL1A1 gene involved in osteoporosis. PMID:24273577
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. PMID:24268658
Sorting nexin 24 genetic variation associates with coronary artery aneurysm severity in Kawasaki disease patients. PMID:24268062
Representing annotation compositionality and provenance for the Semantic Web. PMID:24268021
RefSeq: an update on mammalian reference sequences. PMID:24259432
Database resources of the National Center for Biotechnology Information. PMID:24259429
Specialized Dynamical Properties of Promiscuous Residues Revealed by Simulated Conformational Ensembles. PMID:24250278
Proteogenomic analysis reveals unanticipated adaptations of colorectal tumor cells to deficiencies in DNA mismatch repair. PMID:24247723
Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization? PMID:24242990
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. PMID:24241535
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. PMID:24228726
A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese? PMID:24227891
DriverDB: an exome sequencing database for cancer driver gene identification. PMID:24214964
Genome-wide analysis of HPV integration in human cancers reveals recurrent, focal genomic instability. PMID:24201445
A guide RNA sequence design platform for the CRISPR/Cas9 system for model organism genomes. PMID:24199189
IRAK4 and TLR3 Sequence Variants may Alter Breast Cancer Risk among African-American Women. PMID:24194738
The association between the Angiotensin-Converting Enzyme-2 gene and blood pressure in a cohort study of adolescents. PMID:24191856
A genome-wide association study of prostate cancer in West African men. PMID:24185611
Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms. PMID:24184683
Large-scale mass spectrometric detection of variant peptides resulting from nonsynonymous nucleotide differences. PMID:24175627
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema. PMID:24167460
Tobacco smoking, NBS1 polymorphisms, and survival in lung and upper aerodigestive tract cancers with semi-Bayes adjustment for hazard ratio variation. PMID:24166361
Ensembl Genomes 2013: scaling up access to genome-wide data. PMID:24163254
PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways. PMID:24163105
Improved exome prioritization of disease genes through cross-species phenotype comparison. PMID:24162188
PDBsum additions. PMID:24153109
Evolutionary and ontogenetic changes in RNA editing in human, chimpanzee, and macaque brains. PMID:24152549
HAMR: high-throughput annotation of modified ribonucleotides. PMID:24149843
Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. PMID:24142049
Next-generation sequencing for mitochondrial disorders. PMID:24138576
Identification of genome-wide single nucleotide polymorphisms in allopolyploid crop Brassica napus. PMID:24138473
CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data. PMID:24124457
Contribution of selection for protein folding stability in shaping the patterns of polymorphisms in coding regions. PMID:24124208
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. PMID:24113144
Ancient origins of vertebrate-specific innate antiviral immunity. PMID:24109602
Bench-to-bedside review: future novel diagnostics for sepsis - a systems biology approach. PMID:24093155
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. PMID:24091937
Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS). PMID:24086769
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. PMID:24077912
The next-generation sequencing revolution and its impact on genomics. PMID:24074859
A SNP profiling panel for sample tracking in whole-exome sequencing studies. PMID:24070238
Identification and characterization of cancer mutations in Japanese lung adenocarcinoma without sequencing of normal tissue counterparts. PMID:24069199
Genomic correlates of relationship QTL involved in fore- versus hind limb divergence in mice. PMID:24065733
WormBase: Annotating many nematode genomes. PMID:24058818
Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome. PMID:24058690
Molecular prioritization strategies to identify functional genetic variants in the cardiovascular disease-associated expression QTL Vanin-1. PMID:24045843
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. PMID:24044690
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. PMID:24038877
The role and challenges of exome sequencing in studies of human diseases. PMID:24032039
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. PMID:24030952
Systematic investigation of cancer-associated somatic point mutations in SNP databases. PMID:24022151
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. PMID:24013571
Systematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicine. PMID:24009664
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. PMID:24009529
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PMID:24009516
Whole transcriptome sequencing identifies tumor-specific mutations in human oral squamous cell carcinoma. PMID:24007313
Early growth response-2 signaling mediates immunomodulatory effects of human multipotential stromal cells. PMID:24007274
M2SG: mapping human disease-related genetic variants to protein sequences and genomic loci. PMID:24002112
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing. PMID:24001973
Rare-disease genetics in the era of next-generation sequencing: discovery to translation. PMID:23999272
Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation. PMID:23997956
Iron deficiency modifies gene expression variation induced by augmented hypoxia sensing. PMID:23993337
Virmid: accurate detection of somatic mutations with sample impurity inference. PMID:23987214
Space constrained homology modelling: the paradigm of the RNA-dependent RNA polymerase of dengue (type II) virus. PMID:23986788
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. PMID:23979605
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. PMID:23975875
A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes. PMID:23966869
The regulated secretory pathway and human disease: insights from gene variants and single nucleotide polymorphisms. PMID:23964269
Databases of genomic variation and phenotypes: existing resources and future needs. PMID:23962721
Towards precision medicine: advances in computational approaches for the analysis of human variants. PMID:23962656
Gene expression regulation by upstream open reading frames and human disease. PMID:23950723
Gentrepid V2.0: a web server for candidate disease gene prediction. PMID:23947436
Signatures of mutational processes in human cancer. PMID:23945592
Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP. PMID:23935863
Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing. PMID:23926200
Latest advances in connective tissue disorders. PMID:23904866
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects. PMID:23902830
A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. PMID:23902802
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
Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis. PMID:23879873
Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations. PMID:23875061
A systems-genetics approach and data mining tool to assist in the discovery of genes underlying complex traits in Oryza sativa. PMID:23874666
Variants in ZNRD1 gene predict HIV-1/AIDS disease progression in a Han Chinese population in Taiwan. PMID:23874430
GEMINI: integrative exploration of genetic variation and genome annotations. PMID:23874191
Molecular mechanisms of disease-causing missense mutations. PMID:23871686
In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3. PMID:23862152
Interpreting secondary cardiac disease variants in an exome cohort. PMID:23861362
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. PMID:23859901
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. PMID:23847139
lncRNome: a comprehensive knowledgebase of human long noncoding RNAs. PMID:23846593
Assessment of SLX4 Mutations in Hereditary Breast Cancers. PMID:23840564
Identification of active regulatory regions from DNA methylation data. PMID:23828043
MiST: a new approach to variant detection in deep sequencing datasets. PMID:23828039
MMuFLR: missense mutation and frameshift location reporter. PMID:23825368
The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutations. PMID:23819919
Collective judgment predicts disease-associated single nucleotide variants. PMID:23819846
Thoughts from SNP-SIG 2012: future challenges in the annotation of genetic variations. PMID:23819751
Assessment of computational methods for predicting the effects of missense mutations in human cancers. PMID:23819521
WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation. PMID:23819482
WEP: a high-performance analysis pipeline for whole-exome data. PMID:23815231
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. PMID:23814038
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. PMID:23810505
DISSECT Method Using PNA-LNA Clamp Improves Detection of EGFR T790m Mutation. PMID:23805327
Cake: a bioinformatics pipeline for the integrated analysis of somatic variants in cancer genomes. PMID:23803469
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures. PMID:23793516
Genome-wide variation of cytosine modifications between European and African populations and the implications for complex traits. PMID:23792949
In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ). PMID:23772360
Case-only analyses of the associations between polymorphisms in the metastasis-modifying genes BRMS1 and SIPA1 and breast tumor characteristics, lymph node metastasis, and survival. PMID:23771732
The association of CD81 polymorphisms with alloimmunization in sickle cell disease. PMID:23762099
An In Silico Evaluation of Deleterious Nonsynonymous Single Nucleotide Polymorphisms in the ErbB3 Oncogene. PMID:23741632
Discovering motifs that induce sequencing errors. PMID:23735080
Relation between variants in the neurotrophin receptor gene, NTRK3, and white matter integrity in healthy young adults. PMID:23727532
GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications. PMID:23723249
Germline and somatic mutations in cyclin-dependent kinase inhibitor genes CDKN1A, CDKN2B, and CDKN2C in sporadic parathyroid adenomas. PMID:23715670
Identifying cancer mutation targets across thousands of samples: MuteProc, a high throughput mutation analysis pipeline. PMID:23714400
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. PMID:23712453
Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. PMID:23704879
Adjusting for background mutation frequency biases improves the identification of cancer driver genes. PMID:23694700
The Missing Heritability in T1D and Potential New Targets for Prevention. PMID:23691517
The Role of Interleukin-1 Genotype in the Association between Coronary Heart Disease and Periodontitis in a Syrian Population. PMID:23691333
International Union of Basic and Clinical Pharmacology. LXXXVIII. G protein-coupled receptor list: recommendations for new pairings with cognate ligands. PMID:23686350
The mutational landscape of adenoid cystic carcinoma. PMID:23685749
NHLH2: at the intersection of obesity and fertility. PMID:23684566
FAM111A mutations result in hypoparathyroidism and impaired skeletal development. PMID:23684011
A novel approach for characterizing microsatellite instability in cancer cells. PMID:23671654
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PMID:23667635
Candidate gene association studies: a comprehensive guide to useful in silico tools. PMID:23656885
Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records. PMID:23651022
Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs. PMID:23642077
Tumor suppressors status in cancer cell line Encyclopedia. PMID:23639312
Quantifying the use of bioresources for promoting their sharing in scientific research. PMID:23634721
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland. PMID:23626689
SNVDis: a proteome-wide analysis service for evaluating nsSNVs in protein functional sites and pathways. PMID:23618375
Effect of interleukin-6 polymorphism on risk of preterm birth within population strata: a meta-analysis. PMID:23617681
Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure. PMID:23609612
Cancer genome-sequencing study design. PMID:23594910
Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia. PMID:23593297
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1. PMID:23591138
A sequence-based variation map of zebrafish. PMID:23590399
Knowledge discovery in variant databases using inductive logic programming. PMID:23589683
Whole genome and transcriptome sequencing of a B3 thymoma. PMID:23577124
Extrapolating the effect of deleterious nsSNPs in the binding adaptability of flavopiridol with CDK7 protein: a molecular dynamics approach. PMID:23561625
Identification of a loss-of-function mutation in Ube2l6 associated with obesity resistance. PMID:23557705
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. PMID:23551011
The genomic and transcriptomic landscape of a HeLa cell line. PMID:23550136
Population structure confounds autism genetic classifier. PMID:23546168
Genetic polymorphisms at TIMP3 are associated with survival of adenocarcinoma of the gastroesophageal junction. PMID:23527119
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. PMID:23525077
Where in the genome are we? A cautionary tale of database use in genomics research. PMID:23519237
Mouse urinary peptides provide a molecular basis for genotype discrimination by nasal sensory neurons. PMID:23511480
Biochemical analysis of active site mutations of human polymerase η. PMID:23499771
Mutation spectrum in human colorectal cancers and potential functional relevance. PMID:23497483
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. PMID:23487782
Expanding mutation spectrum in CPT II gene: identification of four novel mutations. PMID:23475205
Global regulation of alternative splicing by adenosine deaminase acting on RNA (ADAR). PMID:23474544
Enhancing human spermine synthase activity by engineered mutations. PMID:23468611
Structure-based comparative analysis and prediction of N-linked glycosylation sites in evolutionarily distant eukaryotes. PMID:23459159
search GenBank: interactive orchestration and ad-hoc choreography of Web services in the exploration of the biomedical resources of the National Center For Biotechnology Information. PMID:23452691
Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study. PMID:23437964
ETHNOPRED: a novel machine learning method for accurate continental and sub-continental ancestry identification and population stratification correction. PMID:23432980
Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases. PMID:23431257
Haplotype analysis of the folate-related genes MTHFR, MTRR, and MTR and migraine with aura. PMID:23430981
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. PMID:23427188
Lack of interaction of beta-cell-function-associated variants with hypertension on change in fasting glucose and diabetes risk: the Framingham Offspring Study. PMID:23425704
Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using Biofilter, and gene-environment interactions using the PhenX Toolkit. PMID:23424120
An approximate Bayesian approach for mapping paired-end DNA reads to a reference genome. PMID:23413433
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. PMID:23404334
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. PMID:23396013
Functional consequences of a novel variant of PCSK1. PMID:23383060
Construction and comparative analyses of highly dense linkage maps of two sweet cherry intra-specific progenies of commercial cultivars. PMID:23382953
Discovery of novel non-synonymous SNP variants in 988 candidate genes from 6 centenarians by target capture and next-generation sequencing. PMID:23376243
Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation. PMID:23354438
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. PMID:23351986
Finding protein-coding genes through human polymorphisms. PMID:23349826
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. PMID:23349227
Identification and functional annotation of genome-wide ER-regulated genes in breast cancer based on ChIP-Seq data. PMID:23346221
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period. PMID:23343000
Impact of genetic polymorphisms of SLC2A2, SLC2A5, and KHK on metabolic phenotypes in hypertensive individuals. PMID:23341889
The genomic landscape of hypodiploid acute lymphoblastic leukemia. PMID:23334668
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. PMID:23329068
Transcriptome-wide expansion of non-coding regulatory switches: evidence from co-occurrence of Alu exonization, antisense and editing. PMID:23303787
Evaluation of DNA from the Papanicolaou test to detect ovarian and endometrial cancers. PMID:23303603
HitWalker: variant prioritization for personalized functional cancer genomics. PMID:23303510
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. PMID:23293122
Genetic heterogeneity of diffuse large B-cell lymphoma. PMID:23292937
Development and evaluation of a genome-wide 6K SNP array for diploid sweet cherry and tetraploid sour cherry. PMID:23284615
Genome-wide meta-analysis of genetic susceptible genes for Type 2 Diabetes. PMID:23281828
Steps to ensure accuracy in genotype and SNP calling from Illumina sequencing data. PMID:23281772
The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource. PMID:23280990
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. PMID:23275527
Population-scale analysis of human microsatellites reveals novel sources of exonic variation. PMID:23274653
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. PMID:23274434
Single nucleotide polymorphisms in Mycobacterium tuberculosis and the need for a curated database. PMID:23266261
Transcriptome-wide identification of A > I RNA editing sites by inosine specific cleavage. PMID:23264566
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. PMID:23255504
Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder. PMID:23253088
Identification of functional DNA variants in the constitutive promoter region of MDM2. PMID:23244604
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. PMID:23218701
MBD4 and TDG: multifaceted DNA glycosylases with ever expanding biological roles. PMID:23195996
Database resources of the National Center for Biotechnology Information. PMID:23193264
Prediction of protein-destabilizing polymorphisms by manual curation with protein structure. PMID:23189203
Identification of mutant K-Ras-dependent phenotypes using a panel of isogenic cell lines. PMID:23188824
Genetic association studies in lumbar disc degeneration: a systematic review. PMID:23185509
Effect prediction of identified SNPs linked to fruit quality and chilling injury in peach [Prunus persica (L.) Batsch]. PMID:23184287
Fine map of the Gct1 spontaneous ovarian granulosa cell tumor locus. PMID:23179634
MirSNP, a database of polymorphisms altering miRNA target sites, identifies miRNA-related SNPs in GWAS SNPs and eQTLs. PMID:23173617
Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection. PMID:23164068
The UCSC Genome Browser database: extensions and updates 2013. PMID:23155063
Gene size matters. PMID:23152854
The genetic landscape of mutations in Burkitt lymphoma. PMID:23143597
An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays. PMID:23137569
Low prevalence of connexin-40 gene variants in atrial tissues and blood from atrial fibrillation subjects. PMID:23134779
Estimating the rate of irreversibility in protein evolution. PMID:23132897
Sensitive measurement of single-nucleotide polymorphism-induced changes of RNA conformation: application to disease studies. PMID:23125360
Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension. PMID:23110203
Mechanism of repair of 5'-topoisomerase II-DNA adducts by mammalian tyrosyl-DNA phosphodiesterase 2. PMID:23104055
EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics. PMID:23095660
Integrative analysis of somatic mutations altering microRNA targeting in cancer genomes. PMID:23091610
dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes. PMID:23083219
MK4MDD: a multi-level knowledge base and analysis platform for major depressive disorder. PMID:23071556
Demethylation of the aryl hydrocarbon receptor repressor as a biomarker for nascent smokers. PMID:23070629
Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database. PMID:23056176
Interpretation of the consequences of mutations in protein kinases: combined use of bioinformatics and text mining. PMID:23055974
Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides. PMID:23049958
SCALCE: boosting sequence compression algorithms using locally consistent encoding. PMID:23047557
Confidence-based somatic mutation evaluation and prioritization. PMID:23028300
IκBKβ and NFκB1, NSAID use and risk of colorectal cancer in the Colon Cancer Family Registry. PMID:23002237
Bioinformatics for cancer immunology and immunotherapy. PMID:22986455
Online tools for bioinformatics analyses in nutrition sciences. PMID:22983844
Extra-binomial variation approach for analysis of pooled DNA sequencing data. PMID:22976083
In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing. PMID:22974163
Genetic association of the KLK4 locus with risk of prostate cancer. PMID:22970239
RhesusBase: a knowledgebase for the monkey research community. PMID:22965133
Genetic variation in SPAG16 regions encoding the WD40 repeats is not associated with reduced sperm motility and axonemal defects in a population of infertile males. PMID:22963137
Coupled mutation finder: a new entropy-based method quantifying phylogenetic noise for the detection of compensatory mutations. PMID:22963049
Genetic risk factors for type 2 diabetes: a trans-regulatory genetic architecture? PMID:22958899
RNA editing in the human ENCODE RNA-seq data. PMID:22955975
Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. PMID:22941189
A computational framework for boosting confidence in high-throughput protein-protein interaction datasets. PMID:22937800
Gene isoform specificity through enhancer-associated antisense transcription. PMID:22937057
Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells. PMID:22926731
Sequencing and characterization of the FVB/NJ mouse genome. PMID:22916792
Single nucleotide polymorphisms can create alternative polyadenylation signals and affect gene expression through loss of microRNA-regulation. PMID:22915998
Serotonin transporter gene (SLC6A4) variations are associated with poor survival in colorectal cancer patients. PMID:22911682
The UCSC genome browser and associated tools. PMID:22908213
A map of human microRNA variation uncovers unexpectedly high levels of variability. PMID:22906193
Recurrent R-spondin fusions in colon cancer. PMID:22895193
A beginners guide to SNP calling from high-throughput DNA-sequencing data. PMID:22886560
SAP--a sequence mapping and analyzing program for long sequence reads alignment and accurate variants discovery. PMID:22880129
SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data. PMID:22870267
Comparative oncogenomics implicates the neurofibromin 1 gene (NF1) as a breast cancer driver. PMID:22851646
A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat. PMID:22843192
NMNAT1 mutations cause Leber congenital amaurosis. PMID:22842227
A Multilocus Sequence Typing System (MLST) reveals a high level of diversity and a genetic component to Entamoeba histolytica virulence. PMID:22839995
Getting personalized cancer genome analysis into the clinic: the challenges in bioinformatics. PMID:22839973
Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation. PMID:22829731
Limitations of the human reference genome for personalized genomics. PMID:22811759
A public resource facilitating clinical use of genomes. PMID:22797899
SigCS base: an integrated genetic information resource for human cerebral stroke. PMID:22784567
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. PMID:22770981
Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches. PMID:22768050
Large-scale computational identification of regulatory SNPs with rSNP-MAPPER. PMID:22759655
Disease-related mutations predicted to impact protein function. PMID:22759649
MEK genomics in development and disease. PMID:22753777
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. PMID:22753090
DNA repair polymorphisms influence the risk of second neoplasm after treatment of childhood acute lymphoblastic leukemia. PMID:22752646
GenomeGems: evaluation of genetic variability from deep sequencing data. PMID:22748151
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. PMID:22742743
SVM²: an improved paired-end-based tool for the detection of small genomic structural variations using high-throughput single-genome resequencing data. PMID:22735696
Functional analysis of human thromboxane synthase polymorphic variants. PMID:22735388
Mitochondrial mutations and polymorphisms in psychiatric disorders. PMID:22723804
wANNOVAR: annotating genetic variants for personal genomes via the web. PMID:22717648
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. PMID:22703879
Using Galaxy to perform large-scale interactive data analyses. PMID:22700312
CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources. PMID:22693220
SIFT web server: predicting effects of amino acid substitutions on proteins. PMID:22689647
Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutations. PMID:22685075
A mutation-centric approach to identifying pharmacogenomic relations in text. PMID:22683993
Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus. PMID:22665440
Standard methods for the management of immunogenetic data. PMID:22665236
Genotyping of single nucleotide polymorphisms by 5' nuclease allelic discrimination. PMID:22665234
RASSF1A and the rs2073498 Cancer Associated SNP. PMID:22649770
A-to-I editing of microRNAs in the mammalian brain increases during development. PMID:22645261
VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era. PMID:22618869
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. PMID:22610119
Cis-acting polymorphisms affect complex traits through modifications of microRNA regulation pathways. PMID:22606281
Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene. PMID:22591852
Proteome-wide analysis of single-nucleotide variations in the N-glycosylation sequon of human genes. PMID:22586465
Paralogous annotation of disease-causing variants in long QT syndrome genes. PMID:22581653
Analyzing effects of naturally occurring missense mutations. PMID:22577471
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis. PMID:22573477
Meta-analysis of genetic association studies on bipolar disorder. PMID:22573399
Patterns of ancestry, signatures of natural selection, and genetic association with stature in Western African pygmies. PMID:22570615
Hereditary autoinflammatory syndromes: a Brazilian multicenter study. PMID:22566169
Cataloguing functionally relevant polymorphisms in gene DNA ligase I: a computational approach. PMID:22558535
Bioinformatics and variability in drug response: a protein structural perspective. PMID:22552919
Wrapper-based selection of genetic features in genome-wide association studies through fast matrix operations. PMID:22551170
Systematic identification of pharmacogenomics information from clinical trials. PMID:22546622
SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update). PMID:22544707
Smoking and genetic risk variation across populations of European, Asian, and African American ancestry--a meta-analysis of chromosome 15q25. PMID:22539395
KISSPLICE: de-novo calling alternative splicing events from RNA-seq data. PMID:22537044
Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases. PMID:22536970
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. PMID:22529292
NGS catalog: A database of next generation sequencing studies in humans. PMID:22517761
Germline BRCA1 mutations increase prostate cancer risk. PMID:22516946
Altered metabolic signature in pre-diabetic NOD mice. PMID:22514744
Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA). PMID:22514673
Decreased cyclooxygenase inhibition by aspirin in polymorphic variants of human prostaglandin H synthase-1. PMID:22513397
Identification and characterization of lineage-specific highly conserved noncoding sequences in Mammalian genomes. PMID:22505575
Systematic identification of edited microRNAs in the human brain. PMID:22499667
Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens. PMID:22492626
MSV3d: database of human MisSense Variants mapped to 3D protein structure. PMID:22491796
Enhancing the usability and performance of structured association mapping algorithms using automation, parallelization, and visualization in the GenAMap software system. PMID:22471660
A mostly traditional approach improves alignment of bisulfite-converted DNA. PMID:22457070
Genomics and successful aging: grounds for renewed optimism? PMID:22454374
Transcription factors are targeted by differentially expressed miRNAs in primates. PMID:22454130
The transcript-centric mutations in human genomes. PMID:22449397
Distinct contributions of replication and transcription to mutation rate variation of human genomes. PMID:22449396
Loss of giant obscurins promotes breast epithelial cell survival through apoptotic resistance. PMID:22441987
microPIR: an integrated database of microRNA target sites within human promoter sequences. PMID:22439011
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. PMID:22407726
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. PMID:22401137
Obesity-insulin targeted genes in the 3p26-25 region in human studies and LG/J and SM/J mice. PMID:22386932
Investigating the structural impacts of I64T and P311S mutations in APE1-DNA complex: a molecular dynamics approach. PMID:22384055
Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. PMID:22383991
GrameneMart: the BioMart data portal for the Gramene project. PMID:22374386
Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations. PMID:22370636
Imputation of single-nucleotide polymorphisms in inbred mice using local phylogeny. PMID:22345612
Comprehensive evaluation of SNP identification with the Restriction Enzyme-based Reduced Representation Library (RRL) method. PMID:22340203
Exome analysis of a family with pleiotropic congenital heart disease. PMID:22337856
Taxonomizing, sizing, and overcoming the incidentalome. PMID:22323072
dbPTB: a database for preterm birth. PMID:22323062
Analysis of DNA sequence variants detected by high-throughput sequencing. PMID:22290882
JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data. PMID:22285562
Complex-disease networks of trait-associated single-nucleotide polymorphisms (SNPs) unveiled by information theory. PMID:22278381
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. PMID:22277967
miRdSNP: a database of disease-associated SNPs and microRNA target sites on 3'UTRs of human genes. PMID:22276777
A combined functional annotation score for non-synonymous variants. PMID:22261837
Bioinformatics for personal genome interpretation. PMID:22247263
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. PMID:22237431
Estimating population divergence time and phylogeny from single-nucleotide polymorphisms data with outgroup ascertainment bias. PMID:22211450
SNPdbe: constructing an nsSNP functional impacts database. PMID:22210871
MotifMap: integrative genome-wide maps of regulatory motif sites for model species. PMID:22208852
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. PMID:22199024
Genetic and epigenetic variations contributed by Alu retrotransposition. PMID:22185517
SySAP: a system-level predictor of deleterious single amino acid polymorphisms. PMID:22183811
Methods, challenges, and promise of next-generation sequencing in cancer biology. PMID:22180681
Detection of structural variants and indels within exome data. PMID:22179552
Performance comparison of whole-genome sequencing platforms. PMID:22178993
Mutations in EZH2 cause Weaver syndrome. PMID:22177091
A SNP in steroid receptor coactivator-1 disrupts a GSK3β phosphorylation site and is associated with altered tamoxifen response in bone. PMID:22174377
Polymorphic NumtS trace human population relationships. PMID:22160368
SomaticSniper: identification of somatic point mutations in whole genome sequencing data. PMID:22155872
Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. PMID:22155870
Database resources of the National Center for Biotechnology Information. PMID:22140104
BioProject and BioSample databases at NCBI: facilitating capture and organization of metadata. PMID:22139929
Large-scale discovery of enhancers from human heart tissue. PMID:22138689
Association of single-nucleotide polymorphisms in CCR6, TAGAP, and TNFAIP3 with rheumatoid arthritis in African Americans. PMID:22127930
Quantitative model of R-loop forming structures reveals a novel level of RNA-DNA interactome complexity. PMID:22121227
NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy. PMID:22121212
DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness. PMID:22116789
Efficient correction of hemoglobinopathy-causing mutations by homologous recombination in integration-free patient iPSCs. PMID:22105484
SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value. PMID:22096241
The UCSC Genome Browser database: extensions and updates 2011. PMID:22086951
PolymiRTS Database 2.0: linking polymorphisms in microRNA target sites with human diseases and complex traits. PMID:22080514
ADHDgene: a genetic database for attention deficit hyperactivity disorder. PMID:22080511
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. PMID:22076464
Segtor: rapid annotation of genomic coordinates and single nucleotide variations using segment trees. PMID:22069465
WormBase 2012: more genomes, more data, new website. PMID:22067452
Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species. PMID:22067447
HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. PMID:22064851
DistiLD Database: diseases and traits in linkage disequilibrium blocks. PMID:22058129
ALFRED: an allele frequency resource for research and teaching. PMID:22039151
High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. PMID:22035192
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. PMID:22006338
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. PMID:22004663
Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers. PMID:21992066
Improving the prediction of disease-related variants using protein three-dimensional structure. PMID:21992054
Characterization of pathogenic germline mutations in human protein kinases. PMID:21992016
Identification of cis-regulatory sequence variations in individual genome sequences. PMID:21989199
A potential role for glucose transporters in the evolution of human brain size. PMID:21986508
Snat: a SNP annotation tool for bovine by integrating various sources of genomic information. PMID:21982513
Activating mutation in MET oncogene in familial colorectal cancer. PMID:21970370
G-DOC: a systems medicine platform for personalized oncology. PMID:21969811
Kaviar: an accessible system for testing SNV novelty. PMID:21965822
Mutation of the Nrf2 gene in non-small cell lung cancer. PMID:21964605
Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice. PMID:21936904
Novel germline PALB2 truncating mutations in African American breast cancer patients. PMID:21932393
Genetic effects at pleiotropic loci are context-dependent with consequences for the maintenance of genetic variation in populations. PMID:21931559
Assessing and managing risk when sharing aggregate genetic variant data. PMID:21921928
Computational and statistical approaches to analyzing variants identified by exome sequencing. PMID:21920052
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. PMID:21907147
BIRC5 promoter SNPs do not affect nuclear survivin expression and survival of malignant pleural mesothelioma patients. PMID:21861135
Three periods of regulatory innovation during vertebrate evolution. PMID:21852499
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. PMID:21834044
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits. PMID:21811304
Selection for translation efficiency on synonymous polymorphisms in recent human evolution. PMID:21803767
The mutational landscape of head and neck squamous cell carcinoma. PMID:21798893
Prediction of functional regulatory SNPs in monogenic and complex disease. PMID:21796725
VISTA Region Viewer (RViewer)--a computational system for prioritizing genomic intervals for biomedical studies. PMID:21791533
Identifying functional single nucleotide polymorphisms in the human CArGome. PMID:21771879
Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array. PMID:21769931
The ApoE gene of Alzheimer's disease (AD). PMID:21769591
Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes. PMID:21765920
A new disease-specific machine learning approach for the prediction of cancer-causing missense variants. PMID:21763417
Genetic variability within the cholesterol lowering pathway and the effectiveness of statins in reducing the risk of MI. PMID:21741043
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]. PMID:21739273
Poly (A)+ transcriptome assessment of ERBB2-induced alterations in breast cell lines. PMID:21731642
Exome-wide DNA capture and next generation sequencing in domestic and wild species. PMID:21729323
Improved haplotype-based detection of ongoing selective sweeps towards an application in Arabidopsis thaliana. PMID:21729283
SeqGene: a comprehensive software solution for mining exome- and transcriptome- sequencing data. PMID:21714929
Pathways of distinction analysis: a new technique for multi-SNP analysis of GWAS data. PMID:21695280
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. PMID:21681857
Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. PMID:21680795
Whole-genome sequencing for optimized patient management. PMID:21677200
SNPs occur in regions with less genomic sequence conservation. PMID:21674007
Substitution patterns are GC-biased in divergent sequences across the metazoans. PMID:21670083
Exome sequencing in Parkinson's disease. PMID:21651510
A comprehensive gene expression atlas of sex- and tissue-specificity in the malaria vector, Anopheles gambiae. PMID:21649883
Genomic imbalances in esophageal squamous cell carcinoma identified by molecular cytogenetic techniques. PMID:21637470
Transmission distortion in Crohn's disease risk gene ATG16L1 leads to sex difference in disease association. PMID:21618365
The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus. PMID:21614020
Bioinformatics challenges for personalized medicine. PMID:21596790
Genotype and SNP calling from next-generation sequencing data. PMID:21587300
The Roche Cancer Genome Database 2.0. PMID:21586118
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors. PMID:21575214
Fetal ERAP2 variation is associated with preeclampsia in African Americans in a case-control study. PMID:21569342
ComB: SNP calling and mapping analysis for color and nucleotide space platforms. PMID:21563978
Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution. PMID:21504866
NCI60 cancer cell line panel data and RNAi analysis help identify EAF2 as a modulator of simvastatin and lovastatin response in HCT-116 cells. PMID:21483694
Exploring off-targets and off-systems for adverse drug reactions via chemical-protein interactome--clozapine-induced agranulocytosis as a case study. PMID:21483481
The Structural Biology Knowledgebase: a portal to protein structures, sequences, functions, and methods. PMID:21472436
Evaluation of functional genetic variants for breast cancer risk: results from the Shanghai breast cancer study. PMID:21454829
A genome-wide view of mutation rate co-variation using multivariate analyses. PMID:21426544
Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. PMID:21424820
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. PMID:21412170
AnyExpress: integrated toolkit for analysis of cross-platform gene expression data using a fast interval matching algorithm. PMID:21410990
Genome wide SNP discovery, analysis and evaluation in mallard (Anas platyrhynchos). PMID:21410945
Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. PMID:21407270
Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON. PMID:21397051
Apolipoprotein M gene (APOM) polymorphism modifies metabolic and disease traits in type 2 diabetes. PMID:21390319
CREBBP mutations in relapsed acute lymphoblastic leukaemia. PMID:21390130
The GENCODE exome: sequencing the complete human exome. PMID:21364695
Rule based classifier for the analysis of gene-gene and gene-environment interactions in genetic association studies. PMID:21362183
Meet me halfway: when genomics meets structural bioinformatics. PMID:21350909
ACT: aggregation and correlation toolbox for analyses of genome tracks. PMID:21349863
mRNA and protein levels of FUS, EWSR1, and TAF15 are upregulated in liposarcoma. PMID:21344536
TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a Cancer and Leukemia Group B study. PMID:21343549
Epistasis between COMT and MTHFR in maternal-fetal dyads increases risk for preeclampsia. PMID:21304959
A consensus tree approach for reconstructing human evolutionary history and detecting population substructure. PMID:21282863
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. PMID:21270641
Analysis of nucleosome positioning determined by DNA helix curvature in the human genome. PMID:21269520
Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system. PMID:21269451
Quality control procedures for genome-wide association studies. PMID:21234875
Predicting disease-associated substitution of a single amino acid by analyzing residue interactions. PMID:21223604
Modeling single nucleotide polymorphisms in the human AKR1C1 and AKR1C2 genes: implications for functional and genotyping analyses. PMID:21217827
Gene inactivation and its implications for annotation in the era of personal genomics. PMID:21205862
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. PMID:21203403
ASSIMILATOR: a new tool to inform selection of associated genetic variants for functional studies. PMID:21177990
Vitamin D receptor gene methylation is associated with ethnicity, tuberculosis, and TaqI polymorphism. PMID:21168462
SNPexp - A web tool for calculating and visualizing correlation between HapMap genotypes and gene expression levels. PMID:21167019
Searching NCBI's dbSNP database. PMID:21154707
MU2A--reconciling the genome and transcriptome to determine the effects of base substitutions. PMID:21149339
Mugsy: fast multiple alignment of closely related whole genomes. PMID:21148543
Disease-associated alleles in genome-wide association studies are enriched for derived low frequency alleles relative to HapMap and neutral expectations. PMID:21143973
Toward an automatic method for extracting cancer- and other disease-related point mutations from the biomedical literature. PMID:21138947
A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele. PMID:21135204
HSPVdb--the Human Short Peptide Variation Database for improved mass spectrometry-based detection of polymorphic HLA-ligands. PMID:21125265
The D299G/T399I Toll-like receptor 4 variant associates with body and liver fat: results from the TULIP and METSIM Studies. PMID:21125016
The reference human genome demonstrates high risk of type 1 diabetes and other disorders. PMID:21121051
Deep resequencing reveals excess rare recent variants consistent with explosive population growth. PMID:21119644
A Variant in a MicroRNA complementary site in the 3' UTR of the KIT oncogene increases risk of acral melanoma. PMID:21119596
Database resources of the National Center for Biotechnology Information. PMID:21097890
Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing. PMID:21097718
Pash 3.0: A versatile software package for read mapping and integrative analysis of genomic and epigenomic variation using massively parallel DNA sequencing. PMID:21092284
Variants of the adenosine A(2A) receptor gene are protective against proliferative diabetic retinopathy in patients with type 1 diabetes. PMID:21088442
Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. PMID:21070896
Reactome: a database of reactions, pathways and biological processes. PMID:21067998
DrugBank 3.0: a comprehensive resource for 'omics' research on drugs. PMID:21059682
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. PMID:21057504
Integrative analysis of -omics data and histologic scoring in renal disease and transplantation: renal histogenomics. PMID:21044763
Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association. PMID:21042586
New tools and methods for direct programmatic access to the dbSNP relational database. PMID:21037260
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets. PMID:20981267
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. PMID:20972252
The UCSC Genome Browser database: update 2011. PMID:20959295
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. PMID:20953188
Increasing genotype-phenotype model determinism: application to bivariate reading/language traits and epistatic interactions in language-impaired families. PMID:20948219
PEPPI: a peptidomic database of human protein isoforms for proteomics experiments. PMID:20946618
Two new ArrayTrack libraries for personalized biomedical research. PMID:20946617
Confronting two-pair primer design for enzyme-free SNP genotyping based on a genetic algorithm. PMID:20942913
PICMI: mapping point mutations on genomes. PMID:20940168
T1DBase: update 2011, organization and presentation of large-scale data sets for type 1 diabetes research. PMID:20937630
Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA. PMID:20932289
Pseudomonas Genome Database: improved comparative analysis and population genomics capability for Pseudomonas genomes. PMID:20929876
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. PMID:20890278
Domain altering SNPs in the human proteome and their impact on signaling pathways. PMID:20886114
Complete characterization of the microRNAome in a patient with acute myeloid leukemia. PMID:20876853
Epistasis: obstacle or advantage for mapping complex traits? PMID:20865037
Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2. PMID:20863412
Inosine cyanoethylation identifies A-to-I RNA editing sites in the human transcriptome. PMID:20835228
A whole-genome SNP association study of NCI60 cell line panel indicates a role of Ca2+ signaling in selenium resistance. PMID:20830292
Safety paradigm: genetic evaluation of therapeutic grade human embryonic stem cells. PMID:20826474
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. PMID:20818383
Extreme evolutionary disparities seen in positive selection across seven complex diseases. PMID:20808933
OpenHelix: bioinformatics education outside of a different box. PMID:20798181
Molecular diagnostics in transplantation. PMID:20736923
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. PMID:20718043
FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease. PMID:20710047
Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors. PMID:20696054
Prediction of deleterious non-synonymous SNPs based on protein interaction network and hybrid properties. PMID:20689580
DMDM: domain mapping of disease mutations. PMID:20685956
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. PMID:20644199
Polymorphisms in predicted miRNA binding sites and osteoporosis. PMID:20641033
Human variation databases. PMID:20639550
VariantClassifier: A hierarchical variant classifier for annotated genomes. PMID:20626889
A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene. PMID:20625407
CGDSNPdb: a database resource for error-checked and imputed mouse SNPs. PMID:20624716
Optimus Primer: A PCR enrichment primer design program for next-generation sequencing of human exonic regions. PMID:20609249
Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? PMID:20602615
Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. PMID:20565774
Design and evaluation of genome-wide libraries for RNA interference screens. PMID:20550664
Characteristics of transposable element exonization within human and mouse. PMID:20532223
Challenges of sequencing human genomes. PMID:20519329
GC-biased evolution near human accelerated regions. PMID:20502635
Associations between NBS1 polymorphisms, haplotypes and smoking-related cancers. PMID:20478923
Informed consent in genomics and genetic research. PMID:20477535
Refining the association of MHC with multiple sclerosis in African Americans. PMID:20466734
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). PMID:20461110
Ensembl variation resources. PMID:20459805
Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. PMID:20455263
Computational analysis of unassigned high-quality MS/MS spectra in proteomic data sets. PMID:20455209
Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci. PMID:20442332
A Markov blanket-based method for detecting causal SNPs in GWAS. PMID:20438652
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. PMID:20398331
International network of cancer genome projects. PMID:20393554
SNP-RFLPing 2: an updated and integrated PCR-RFLP tool for SNP genotyping. PMID:20377871
Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. PMID:20360267
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. PMID:20346443
Detection and correction of false segmental duplications caused by genome mis-assembly. PMID:20219098
Integrative analysis of the melanoma transcriptome. PMID:20179022
Computational identification of gene-social environment interaction at the human IL6 locus. PMID:20176930
Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterations. PMID:20174472
Structural and functional restraints on the occurrence of single amino acid variations in human proteins. PMID:20169194
Beyond the HapMap Genotypic Data: Prospects of Deep Resequencing Projects. PMID:20151045
A GREM1 gene variant associates with diabetic nephropathy. PMID:20150533
Fast and SNP-tolerant detection of complex variants and splicing in short reads. PMID:20147302
TagRecon: high-throughput mutation identification through sequence tagging. PMID:20131910
U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. PMID:20126413
The Thiamine diphosphate dependent Enzyme Engineering Database: a tool for the systematic analysis of sequence and structure relations. PMID:20122171
Single nucleotide polymorphisms of 8 inflammation-related genes and their associations with smoking-related cancers. PMID:20112337
Characterization of X-linked SNP genotypic variation in globally distributed human populations. PMID:20109212
Human variation in short regions predisposed to deep evolutionary conservation. PMID:20093432
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. PMID:20087401
Synonymous polymorphisms at splicing regulatory sites are associated with CpGs in neurodegenerative disease-related genes. PMID:20077034
A computational screen for site selective A-to-I editing detects novel sites in neuron specific Hu proteins. PMID:20047656
The unfavorable effect of the A allele of the vitamin D receptor promoter polymorphism A-1012G has different mechanisms related to susceptibility and outcome of malignant melanoma. PMID:20046590
Synopsis and data synthesis of genetic association studies in hypertension for the adrenergic receptor family genes: the CUMAGAS-HYPERT database. PMID:20044737
From protein sequences to 3D-structures and beyond: the example of the UniProt knowledgebase. PMID:20043185
Next generation transcriptomes for next generation genomes using est2assembly. PMID:20034392
Single-nucleotide polymorphism bioinformatics: a comprehensive review of resources. PMID:20031630
Evaluation of probabilistic and logical inference for a SNP annotation system. PMID:20015478
Evidence of uneven selective pressure on different subsets of the conserved human genome; implications for the significance of intronic and intergenic DNA. PMID:20015390
Bi-directional SIFT predicts a subset of activating mutations. PMID:20011534
Fine-scale variation and genetic determinants of alternative splicing across individuals. PMID:20011102
Advances in translational bioinformatics: computational approaches for the hunting of disease genes. PMID:20007728
PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation. PMID:19995808
Gevab: a prototype genome variation analysis browsing server. PMID:19958513
RExPrimer: an integrated primer designing tool increases PCR effectiveness by avoiding 3' SNP-in-primer and mis-priming from structural variation. PMID:19958502
PDbase: a database of Parkinson's disease-related genes and genetic variation using substantia nigra ESTs. PMID:19958497
MitoInteractome: mitochondrial protein interactome database, and its application in 'aging network' analysis. PMID:19958484
DNA from buccal swabs suitable for high-throughput SNP multiplex analysis. PMID:19949693
H-InvDB in 2009: extended database and data mining resources for human genes and transcripts. PMID:19933760
SCAN: SNP and copy number annotation. PMID:19933162
Searching for SNPs with cloud computing. PMID:19930550
Use of cell lines in the investigation of pharmacogenetic loci. PMID:19925429
Genome-wide association studies--a summary for the clinical gastroenterologist. PMID:19916168
Database resources of the National Center for Biotechnology Information. PMID:19910364
Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility. PMID:19910025
The UCSC Genome Browser database: update 2010. PMID:19906737
PLANdbAffy: probe-level annotation database for Affymetrix expression microarrays. PMID:19906711
dbDEPC: a database of differentially expressed proteins in human cancers. PMID:19900968
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians. PMID:19900272
Modulation of human placental P-glycoprotein expression and activity by MDR1 gene polymorphisms. PMID:19896927
Evolution of genomic sequence inhomogeneity at mid-range scales. PMID:19891785
Regulation of major histocompatibility complex class II gene expression, genetic variation and disease. PMID:19890353
Ensembl Genomes: extending Ensembl across the taxonomic space. PMID:19884133
BTNL2 gene polymorphisms may be associated with susceptibility to Kawasaki disease and formation of coronary artery lesions in Taiwanese children. PMID:19882345
Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies. PMID:19877174
Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts. PMID:19835606
XML-based approaches for the integration of heterogeneous bio-molecular data. PMID:19828083
Variation in the gene TAS2R38 is associated with the eating behavior disinhibition in Old Order Amish women. PMID:19782709
From SNPs to pathways: integration of functional effect of sequence variations on models of cell signalling pathways. PMID:19758470
An integrated approach to the interpretation of single amino acid polymorphisms within the framework of CATH and Gene3D. PMID:19758469
Improved mutation tagging with gene identifiers applied to membrane protein stability prediction. PMID:19758467
Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study. PMID:19729864
RNA editing: a driving force for adaptive evolution? PMID:19708020
Genome-wide association studies: progress in identifying genetic biomarkers in common, complex diseases. PMID:19662211
The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts. PMID:19617376
Genomic convergence of genome-wide investigations for complex traits. PMID:19604225
A comprehensive resource for integrating and displaying protein post-translational modifications. PMID:19549291
Seq4SNPs: new software for retrieval of multiple, accurately annotated DNA sequences, ready formatted for SNP assay design. PMID:19523221
Local alignment of two-base encoded DNA sequence. PMID:19508732
LD2SNPing: linkage disequilibrium plotter and RFLP enzyme mining for tag SNPs. PMID:19500380
HomozygosityMapper--an interactive approach to homozygosity mapping. PMID:19465395
Application of a new probabilistic model for mining implicit associated cancer genes from OMIM and medline. PMID:19458778
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. PMID:19451530
Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP. PMID:19451166
Genome-wide massively parallel sequencing of formaldehyde fixed-paraffin embedded (FFPE) tumor tissues for copy-number- and mutation-analysis. PMID:19440246
Association of PPARgamma allelic variation, osteoprotegerin and abdominal aortic aneurysm. PMID:19438902
Analytical methods for inferring functional effects of single base pair substitutions in human cancers. PMID:19434427
Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy. PMID:19421414
SNP detection for massively parallel whole-genome resequencing. PMID:19420381
Allelic imbalance sequencing reveals that single-nucleotide polymorphisms frequently alter microRNA-directed repression. PMID:19396161
Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin. PMID:19384013
A consolidated catalogue and graphical annotation of dbSNP polymorphisms in the human tissue kallikrein (KLK) locus. PMID:19383304
Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. PMID:19372376
LS-SNP/PDB: annotated non-synonymous SNPs mapped to Protein Data Bank structures. PMID:19369493
The Human Gene Mutation Database: 2008 update. PMID:19348700
Viability of in-house datamarting approaches for population genetics analysis of SNP genotypes. PMID:19344481
SNPit: a federated data integration system for the purpose of functional SNP annotation. PMID:19327864
Planning the human variome project: the Spain report. PMID:19306394
From cancer genomes to cancer models: bridging the gaps. PMID:19305388
Lowly expressed human microRNA genes evolve rapidly. PMID:19299536
STrengthening the REporting of Genetic Association studies (STREGA)--an extension of the STROBE statement. PMID:19297801
Molecular analysis of activation-induced cytidine deaminase gene in immunoglobulin-E deficient patients. PMID:19266080
SNP-Flankplus: SNP ID-centric retrieval for SNP flanking sequences. PMID:19238236
HistoneHits: a database for histone mutations and their phenotypes. PMID:19218532
Understanding genome browsing. PMID:19204697
Association of VEGF polymorphisms with childhood asthma, lung function and airway responsiveness. PMID:19196819
STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement. PMID:19192942
Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE statement. PMID:19189221
Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement. PMID:19184668
Next generation tools for the annotation of human SNPs. PMID:19181721
Large-scale inference of the point mutational spectrum in human segmental duplications. PMID:19161616
Disperse--a software system for design of selector probes for exon resequencing applications. PMID:19158162
SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms. PMID:19098027
Bitter taste receptors influence glucose homeostasis. PMID:19092995
The YH database: the first Asian diploid genome database. PMID:19073702
FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease. PMID:19061490
GeneDistiller--distilling candidate genes from linkage intervals. PMID:19057649
Hypermutable non-synonymous sites are under stronger negative selection. PMID:19043566
Serotonergic transcription of human FEV reveals direct GATA factor interactions and fate of Pet-1-deficient serotonin neuron precursors. PMID:19036967
Ranking single nucleotide polymorphisms by potential deleterious effects. PMID:18999314
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. PMID:18996919
The UCSC Genome Browser Database: update 2009. PMID:18996895
Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins. PMID:18989397
The diploid genome sequence of an Asian individual. PMID:18987735
The PAZAR database of gene regulatory information coupled to the ORCA toolkit for the study of regulatory sequences. PMID:18971253
VarySysDB: a human genetic polymorphism database based on all H-InvDB transcripts. PMID:18953038
PharmGKB: understanding the effects of individual genetic variants. PMID:18949600
HGVbaseG2P: a central genetic association database. PMID:18948288
MODBASE, a database of annotated comparative protein structure models and associated resources. PMID:18948282
Database resources of the National Center for Biotechnology Information. PMID:18940862
Genetically determined proteolytic cleavage modulates alpha7beta1 integrin function. PMID:18940796
Experimental analysis of oligonucleotide microarray design criteria to detect deletions by comparative genomic hybridization. PMID:18940006
SNP frequency estimation using massively parallel sequencing of pooled DNA. PMID:18854868
SNPinProbe_1.0: a database for filtering out probes in the Affymetrix GeneChip human exon 1.0 ST array potentially affected by SNPs. PMID:18841244
Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene. PMID:18836774
PharmGKB: an integrated resource of pharmacogenomic data and knowledge. PMID:18819074
Advanced genomic data mining. PMID:18818719
A missense variant (P10L) of the melanopsin (OPN4) gene in seasonal affective disorder. PMID:18804284
Effect of single nucleotide polymorphisms on Affymetrix match-mismatch probe pairs. PMID:18795114
Exhaustive prediction of disease susceptibility to coding base changes in the human genome. PMID:18793467
Short tandem repeats in human exons: a target for disease mutations. PMID:18789129
Screening of human SNP database identifies recoding sites of A-to-I RNA editing. PMID:18772245
Isolated populations and complex disease gene identification. PMID:18771588
Translational integrity and continuity: personalized biomedical data integration. PMID:18760382
SNAP predicts effect of mutations on protein function. PMID:18757876
Estimates of natural selection due to protein tertiary structure inform the ancestry of biallelic loci. PMID:18725272
A novel computational and structural analysis of nsSNPs in CFTR gene. PMID:18716917
A human genome-wide library of local phylogeny predictions for whole-genome inference problems. PMID:18710563
Genetic variation in an individual human exome. PMID:18704161
An MCMC algorithm for haplotype assembly from whole-genome sequence data. PMID:18676820
Prediction by graph theoretic measures of structural effects in proteins arising from non-synonymous single nucleotide polymorphisms. PMID:18654622
Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. PMID:18636124
SNP and mutation data on the web - hidden treasures for uncovering. PMID:18628874
T2D-Db: an integrated platform to study the molecular basis of Type 2 diabetes. PMID:18605991
Identification of deleterious non-synonymous single nucleotide polymorphisms using sequence-derived information. PMID:18588693
Association of HMGB1 polymorphisms with outcome in patients with systemic inflammatory response syndrome. PMID:18577209
Positive selection in alternatively spliced exons of human genes. PMID:18571144
Applications of computational algorithm tools to identify functional SNPs. PMID:18563462
Relative effects of mutability and selection on single nucleotide polymorphisms in transcribed regions of the human genome. PMID:18559102
Genome-wide survey of allele-specific splicing in humans. PMID:18518984
The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults. PMID:18499321
Genetic susceptibility to occupational exposures. PMID:18487431
EpiToolKit--a web server for computational immunomics. PMID:18440979
Using galaxy to perform large-scale interactive data analyses. PMID:18428782
Shared genetic causes of cardiac hypertrophy in children and adults. PMID:18403758
Haplotype analysis of TP53 polymorphisms, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent. PMID:18402691
Natural selection of protein structural and functional properties: a single nucleotide polymorphism perspective. PMID:18397526
Role of duplicate genes in robustness against deleterious human mutations. PMID:18369440
Bioinformatics prediction of overlapping frameshifted translation products in mammalian transcripts. PMID:18325113
Genome-wide association studies: progress and potential for drug discovery and development. PMID:18274536
OSIRISv1.2: a named entity recognition system for sequence variants of genes in biomedical literature. PMID:18251998
Prevalence of common disease-associated variants in Asian Indians. PMID:18248681
In silico detection of sequence variations modifying transcriptional regulation. PMID:18208319
The MTHFR gene polymorphism is associated with lean body mass but not fat body mass. PMID:18180959
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. PMID:18179889
Alternative approach to a heavy weight problem. PMID:18096750
The UCSC Genome Browser Database: 2008 update. PMID:18086701
Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases. PMID:18086700
Comparative genomics search for losses of long-established genes on the human lineage. PMID:18085818
Quantitative systems-level determinants of human genes targeted by successful drugs. PMID:18083776
Database resources of the National Center for Biotechnology Information. PMID:18045790
Ensembl 2008. PMID:18000006
F-SNP: computationally predicted functional SNPs for disease association studies. PMID:17986460
CTCFBSDB: a CTCF-binding site database for characterization of vertebrate genomic insulators. PMID:17981843
coliSNP database server mapping nsSNPs on protein structures. PMID:17921498
Information capture using SNPs from HapMap and whole-genome chips differs in a sample of inflammatory and cardiovascular gene-centric regions from genome-wide estimates. PMID:17895426
The MHC2TA -168A/G polymorphism and risk for rheumatoid arthritis: a meta-analysis of 6861 patients and 9270 controls reveals no evidence for association. PMID:17875550
MutDB: update on development of tools for the biochemical analysis of genetic variation. PMID:17827212
A systematic strategy for large-scale analysis of genotype phenotype correlations: identification of candidate genes involved in African trypanosomiasis. PMID:17709344
WASP: a Web-based Allele-Specific PCR assay designing tool for detecting SNPs and mutations. PMID:17697334
A data integration approach for cell cycle analysis oriented to model simulation in systems biology. PMID:17678529
Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients. PMID:17626639
A survey of genomic properties for the detection of regulatory polymorphisms. PMID:17559298
How common are intragene windows with KA > KS owing to purifying selection on synonymous mutations? PMID:17557167
PrimerZ: streamlined primer design for promoters, exons and human SNPs. PMID:17537812
Multigene amplification and massively parallel sequencing for cancer mutation discovery. PMID:17517648
caCORE version 3: Implementation of a model driven, service-oriented architecture for semantic interoperability. PMID:17512259
Arginine (CGC) codon targeting in the human prostacyclin receptor gene (PTGIR) and G-protein coupled receptors (GPCR). PMID:17481829
Nonrandom variations in human cancer ESTs indicate that mRNA heterogeneity increases during carcinogenesis. PMID:17452638
Editing modifies the GABA(A) receptor subunit alpha3. PMID:17369310
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. PMID:17357078
The strength of selection on ultraconserved elements in the human genome. PMID:17357075
Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits. PMID:17327457
Functional impact of missense variants in BRCA1 predicted by supervised learning. PMID:17305420
Automatic extraction of protein point mutations using a graph bigram association. PMID:17274683
A uniform genomic minor histocompatibility antigen typing methodology and database designed to facilitate clinical applications. PMID:17183671
Database resources of the National Center for Biotechnology Information. PMID:17170002
Variation resources at UC Santa Cruz. PMID:17151077
PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease. PMID:17142238
PolymiRTS Database: linking polymorphisms in microRNA target sites with complex traits. PMID:17099235
Predicting the effect of missense mutations on protein function: analysis with Bayesian networks. PMID:16956412
V-MitoSNP: visualization of human mitochondrial SNPs. PMID:16907992
TranscriptSNPView: a genome-wide catalog of mouse coding variation. PMID:16874317
SNPmasker: automatic masking of SNPs and repeats across eukaryotic genomes. PMID:16845091
SNP@Domain: a web resource of single nucleotide polymorphisms (SNPs) within protein domain structures and sequences. PMID:16845090
GenoCache: a Genomics and Cancer Chemoprevention portal. PMID:16779267
Variants in the GH-IGF axis confer susceptibility to lung cancer. PMID:16741161
Predicting deleterious nsSNPs: an analysis of sequence and structural attributes. PMID:16630345
Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations. PMID:16595073
Human SNPs resulting in premature stop codons and protein truncation. PMID:16595072
Periodicity of SNP distribution around transcription start sites. PMID:16579865
SNPs3D: candidate gene and SNP selection for association studies. PMID:16551372
The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping. PMID:16522862
SNP-RFLPing: restriction enzyme mining for SNPs in genomes. PMID:16503968
Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans. PMID:16478714
Comparison of human (and other) genome browsers. PMID:16460652
A SNP in the flt-1 promoter integrates the VEGF system into the p53 transcriptional network. PMID:16432214
RTPrimerDB: the real-time PCR primer and probe database, major update 2006. PMID:16381959
SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. PMID:16381944
OMIA (Online Mendelian Inheritance in Animals): an enhanced platform and integration into the Entrez search interface at NCBI. PMID:16381939
The UCSC Genome Browser Database: update 2006. PMID:16381938
Database resources of the National Center for Biotechnology Information. PMID:16381840
Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation. PMID:16273391
High level of functional polymorphism indicates a unique role of natural selection at human immune system loci. PMID:16261383
GeneSeer: a sage for gene names and genomic resources. PMID:16176584
The Indian Genome Variation database (IGVdb): a project overview. PMID:16133172
A Markov chain Monte Carlo technique for identification of combinations of allelic variants underlying complex diseases in humans. PMID:16118183
Identification of RNA editing sites in the SNP database. PMID:16100382
Computational tradeoffs in multiplex PCR assay design for SNP genotyping. PMID:16042802
Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method. PMID:16026601
Plant genome resources at the national center for biotechnology information. PMID:16010002
nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms. PMID:15980516
MutDB services: interactive structural analysis of mutation data. PMID:15980479
Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci. PMID:15911586
Functionally distinct polymorphic sequences in the human genome that are targets for p53 transactivation. PMID:15843459
Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms. PMID:15784611
The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern. PMID:15781572
SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management. PMID:15774022
novoSNP, a novel computational tool for sequence variation discovery. PMID:15741513
Identification of functional SNPs in the 5-prime flanking sequences of human genes. PMID:15717931
SIEGE: Smoking Induced Epithelial Gene Expression Database. PMID:15608264
FESD: a Functional Element SNPs Database in human. PMID:15608252
NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. PMID:15608248
L1Base: from functional annotation to prediction of active LINE-1 elements. PMID:15608246
Database resources of the National Center for Biotechnology Information. PMID:15608222
Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. PMID:15492219
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PMID:15489334
Molecular dimension explored in evolution to promote proteomic complexity. PMID:15347802
Single nucleotide polymorphism-based validation of exonic splicing enhancers. PMID:15340491
Comparative immunopeptidomics of humans and their pathogens. PMID:15326311
Large-scale validation of single nucleotide polymorphisms in gene regions. PMID:15289484
A SNP-centric database for the investigation of the human genome. PMID:15046636
A library of siRNA duplexes targeting the phosphoinositide 3-kinase pathway: determinants of gene silencing for use in cell-based screens. PMID:14769947
Triplex-forming oligonucleotide target sequences in the human genome. PMID:14726484
EnsMart: a generic system for fast and flexible access to biological data. PMID:14707178
topoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association. PMID:14681472
HGVbase: a curated resource describing human DNA variation and phenotype relationships. PMID:14681471
Database resources of the National Center for Biotechnology Information: update. PMID:14681353
Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. PMID:14525928
PANTHER: a library of protein families and subfamilies indexed by function. PMID:12952881
Evolutionary algorithms for the selection of single nucleotide polymorphisms. PMID:12875658
SIFT: Predicting amino acid changes that affect protein function. PMID:12824425
Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population. PMID:12768436
GALA, a database for genomic sequence alignments and annotations. PMID:12671007
The challenges of recording phenotype in a generalizable and computable form. PMID:12629577
The SNP Consortium website: past, present and future. PMID:12519964
RTPrimerDB: the real-time PCR primer and probe database. PMID:12519963
Database resources of the National Center for Biotechnology. PMID:12519941
The matrix coalescent and an application to human single-nucleotide polymorphisms. PMID:12196407
Accounting for human polymorphisms predicted to affect protein function. PMID:11875032
HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources. PMID:11752345
The Gene Resource Locator: gene locus maps for transcriptome analysis. PMID:11752299
PharmGKB: the Pharmacogenetics Knowledge Base. PMID:11752281
JSNP: a database of common gene variations in the Japanese population. PMID:11752280
HOWDY: an integrated database system for human genome research. PMID:11752279
Database resources of the National Center for Biotechnology Information: 2002 update. PMID:11752242
Sequence variation within the fragile X locus. PMID:11483579
Database resources of the National Center for Biotechnology Information. PMID:11125038 - http://dx.doi.org/10.1093/nar/29.1.308
Tags:
Tags
More detailed information about this field from each metasource.
genetic polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
genome
metasource: Fairsharing.org
version: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
single nucleotide polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
allele origin
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
diseases
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
genotype
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
germline
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
microsatellites
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
nucleotide
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
sequences
metasource: re3data.org
version: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
dna polymorphism
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866
human genetics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866
sequence analysis
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:07.435866
Tags
More detailed information about this field from each metasource.
genetic polymorphism
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
genome
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
single nucleotide polymorphism
metasource: Fairsharing.orgversion: FAIRsharing.org: dbSNP; Database of Single Nucleotide Polymorphism; DOI: https://doi.org/10.25504/FAIRsharing.edxb58; Last edited: June 15, 2021, 1:42 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
allele origin
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
diseases
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
genotype
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
germline
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
microsatellites
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
nucleotide
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
sequences
metasource: re3data.orgversion: re3data.org: dbSNP; editing status 2021-09-07; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3XG81 last accessed: 2022-11-04
dna polymorphism
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:07.435866
human genetics
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:07.435866
sequence analysis
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:07.435866
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:07.435866
polymorphism genome single nucleotide polymorphism allele origin diseases genotype germline microsatellites nucleotide sequences dna polymorphism human genetics sequence analysis rare diseases
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