Genome-Wide Association Studies Catalog
Names
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Genome-Wide Association Studies Catalog
metasource: Fairsharing.org
version: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
GWAS Catalog
metasource: Fairsharing.org
version: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
GWAS catalog
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
gwas_catalog
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
Names
More detailed information about this field from each metasource.
Genome-Wide Association Studies Catalog
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
GWAS Catalog
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
GWAS catalog
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
gwas_catalog
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
Other names: GWAS Catalog, GWAS catalog, gwas_catalog
Names
More detailed information about this field from each metasource.
Genome-Wide Association Studies Catalog
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
GWAS Catalog
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
GWAS catalog
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
gwas_catalog
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
The Genome-Wide Association Studies (GWAS) Catalog provides a consistent, searchable, visualisable and freely available database of published SNP-trait associations, which can be easily integrated with other resources, and is accessed by scientists, clinicians and other users worldwide. Within the Catalog, all eligible GWA studies are identified by literature search and assessed by curators, who then extract the reported trait, significant SNP-trait associations, and sample metadata. The Catalog also publishes a GWAS diagram of SNP-trait associations, mapped onto the human genome by chromosomal location and displayed on the human karyotype. Since 2010, delivery and development of the Catalog has been a collaborative project between the EMBL-EBI and NHGRI.
Description
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The Genome-Wide Association Studies (GWAS) Catalog provides a consistent, searchable, visualisable and freely available database of published SNP-trait associations, which can be easily integrated with other resources, and is accessed by scientists, clinicians and other users worldwide. Within the Catalog, all eligible GWA studies are identified by literature search and assessed by curators, who then extract the reported trait, significant SNP-trait associations, and sample metadata. The Catalog also publishes a GWAS diagram of SNP-trait associations, mapped onto the human genome by chromosomal location and displayed on the human karyotype. Since 2010, delivery and development of the Catalog has been a collaborative project between the EMBL-EBI and NHGRI.
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
A catalogue that provides a publicly available manually curated collection of published GWAS assaying at least 100 000 single-nucleotide polymorphisms (SNPs) and all SNP-trait associations with P <1 × 10−5.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
Webpage:
https://www.ebi.ac.uk/gwas/Webpage
More detailed information about this field from each metasource.
https://www.ebi.ac.uk/gwas/
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
Licence:
Name: EMBL-EBI Terms of UseLicence name
More detailed information about this field from each metasource.
EMBL-EBI Terms of Use
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
Apache-2.0
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
Licence URL
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http://www.ebi.ac.uk/about/terms-of-use
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
Publications:
Publications
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The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
PMID: 24316577
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
PMID: 30445434
metasource: Fairsharing.org
version: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
PMID: 27899670
metasource: Fairsharing.org
version: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
Publications
More detailed information about this field from each metasource.
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
PMID: 24316577
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
PMID: 30445434
metasource: Fairsharing.org
version: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
PMID: 27899670
metasource: Fairsharing.org
version: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
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The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
PubMed citations: 1493.
1493 articles citing: The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Genetic variation as a long-distance modulator of RAD21 expression in humans. PMID:35906355
PHARP: a pig haplotype reference panel for genotype imputation. PMID:35879321
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum. PMID:35865963
An epigenome-wide association study of insulin resistance in African Americans. PMID:35836279
L1 Retrotransposons: A Potential Endogenous Regulator for Schizophrenia. PMID:35832186
Epigenomic analysis reveals a dynamic and context-specific macrophage enhancer landscape associated with innate immune activation and tolerance. PMID:35751107
Empowering the discovery of novel target-disease associations via machine learning approaches in the open targets platform. PMID:35710324
Genomic medicine on the frontier of precision medicine. PMID:35673457
Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes. PMID:35656234
Genome-Wide Association Mapping of Virulence Genes in Wheat Karnal Bunt Fungus Tilletia indica Using Double Digest Restriction-Site Associated DNA-Genotyping by Sequencing Approach. PMID:35633675
Statistical methods for Mendelian randomization in genome-wide association studies: A review. PMID:35615025
Nutrient-Response Pathways in Healthspan and Lifespan Regulation. PMID:35563873
A computationally efficient clustering linear combination approach to jointly analyze multiple phenotypes for GWAS. PMID:35482827
Transcriptomic Analysis of Fumarate Compounds Identifies Unique Effects of Isosorbide Di-(Methyl Fumarate) on NRF2, NF-kappaB and IRF1 Pathway Genes. PMID:35455458
Developing a Sustainable Cardiovascular Disease Research Strategy in Tanzania Through Training: Leveraging From the East African Centre of Excellence in Cardiovascular Sciences Project. PMID:35402575
Genome-wide variants and polygenic risk scores for cognitive impairment following blood or marrow transplantation. PMID:35379913
TBGA: a large-scale Gene-Disease Association dataset for Biomedical Relation Extraction. PMID:35361129
Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine. PMID:35330488
The Genetics of Major Depression: Perspectives on the State of Research and Opportunities for Precision Medicine. PMID:35291372
Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease. PMID:35237542
Novel genetic basis of resistance to Bt toxin Cry1Ac in Helicoverpa zea. PMID:35234875
Comprehensive Statistical and Bioinformatics Analysis in the Deciphering of Putative Mechanisms by Which Lipid-Associated GWAS Loci Contribute to Coronary Artery Disease. PMID:35203469
Multiplexed Genome Editing for Efficient Phenotypic Screening in Zebrafish. PMID:35202345
TRmir: A Comprehensive Resource for Human Transcriptional Regulatory Information of MiRNAs. PMID:35186035
CATA: a comprehensive chromatin accessibility database for cancer. PMID:35134148
Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination. PMID:35122187
Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer. PMID:35108261
BMI, Blood Pressure, and Plasma Lipids among Centenarians and Their Offspring. PMID:35096109
Deciphering the Role of 3D Genome Organization in Breast Cancer Susceptibility. PMID:35087569
A genome-wide association study of serum proteins reveals shared loci with common diseases. PMID:35078996
Functional dissection of inherited non-coding variation influencing multiple myeloma risk. PMID:35013207
Integrative analysis of 3604 GWAS reveals multiple novel cell type-specific regulatory associations. PMID:34996498
Universal annotation of the human genome through integration of over a thousand epigenomic datasets. PMID:34991667
Analysis of coding variants in the human FTO gene from the gnomAD database. PMID:34990463
An aging-related signature predicts favorable outcome and immunogenicity in lung adenocarcinoma. PMID:34967077
ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome. PMID:34966851
Genomic and Personalized Medicine Approaches for Substance Use Disorders (SUDs) Looking at Genome-Wide Association Studies. PMID:34944615
Current HLA Investigations on SARS-CoV-2 and Perspectives. PMID:34912378
Periodontitis Risk Variants at SIGLEC5 Impair ERG and MAFB Binding. PMID:34852650
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India. PMID:34849271
Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus. PMID:34791504
HumanNet v3: an improved database of human gene networks for disease research. PMID:34747468
TcoFBase: a comprehensive database for decoding the regulatory transcription co-factors in human and mouse. PMID:34718747
Recent innovations and in-depth aspects of post-genome wide association study (Post-GWAS) to understand the genetic basis of complex phenotypes. PMID:34689168
A Clinical-Genetic Score for Predicting Weight Loss after Bariatric Surgery: The OBEGEN Study. PMID:34683180
Generalizability of GWA-Identified Genetic Risk Variants for Metabolic Traits to Populations from the Arabian Peninsula. PMID:34681031
Joint Analysis of Genetic Correlation, Mendelian Randomization and Colocalization Highlights the Bi-Directional Causal Association Between Hypothyroidism and Primary Biliary Cirrhosis. PMID:34671386
Germline determinants of humoral immune response to HPV-16 protect against oropharyngeal cancer. PMID:34642315
Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family. PMID:34641644
Associations of LRP5 and MTHFR Gene Variants with Osteoarthritis Prevalence in Elderly Women: A Japanese Cohort Survey Randomly Sampled from a Basic Resident Registry. PMID:34616152
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1. PMID:34605909
Drug Repurposing for Targeting Acute Leukemia With KMT2A (MLL)-Gene Rearrangements. PMID:34594227
A cross-population atlas of genetic associations for 220 human phenotypes. PMID:34594039
A two-stage testing strategy for detecting genes×environment interactions in association studies. PMID:34568910
Systematic Evaluation of DNA Sequence Variations on in vivo Transcription Factor Binding Affinity. PMID:34567058
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution. PMID:34534445
Integrative Epigenome Map of the Normal Human Prostate Provides Insights Into Prostate Cancer Predisposition. PMID:34513844
ReFeaFi: Genome-wide prediction of regulatory elements driving transcription initiation. PMID:34491989
Identifying Breast Cancer-Related Genes Based on a Novel Computational Framework Involving KEGG Pathways and PPI Network Modularity. PMID:34484285
The "GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork": Origins, Rationale, Organization, and Prospects. PMID:34484122
Repurposing new drug candidates and identifying crucial molecules underlying PCOS Pathogenesis Based On Bioinformatics Analysis. PMID:34480296
Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes. PMID:34465876
Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS. PMID:34465180
Seeing the forest through the trees: prioritising potentially functional interactions from Hi-C. PMID:34454581
Parallel Reporter Assays Identify Altered Regulatory Role of rs684232 in Leading to Prostate Cancer Predisposition. PMID:34445492
Biomolecule and Bioentity Interaction Databases in Systems Biology: A Comprehensive Review. PMID:34439912
INFIMA leverages multi-omics model organism data to identify effector genes of human GWAS variants. PMID:34425882
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country. PMID:34395220
Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays. PMID:34373545
A Multi-center Genome-wide Association Study of Cervical Dystonia. PMID:34320236
A Panel of rSNPs Demonstrating Allelic Asymmetry in Both ChIP-seq and RNA-seq Data and the Search for Their Phenotypic Outcomes through Analysis of DEGs. PMID:34298860
Retinoblastoma genetics screening and clinical management. PMID:34294096
quincunx: an R package to query, download and wrangle PGS Catalog data. PMID:34270693
Prioritizing and characterizing functionally relevant genes across human tissues. PMID:34270548
SNP-mediated lncRNA-ENTPD3-AS1 upregulation suppresses renal cell carcinoma via miR-155/HIF-1α signaling. PMID:34218253
New neural network classification method for individuals ancestry prediction from SNPs data. PMID:34183066
HPV16 and HPV18 type-specific APOBEC3 and integration profiles in different diagnostic categories of cervical samples. PMID:34175494
Repurposing of Anticancer Stem Cell Drugs in Brain Tumors. PMID:34165342
A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals. PMID:34117260
Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents. PMID:34099811
Contribution of common risk variants to multiple sclerosis in Orkney and Shetland. PMID:34088990
Causal Association between Periodontitis and Parkinson's Disease: A Bidirectional Mendelian Randomization Study. PMID:34069479
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys. PMID:34047840
Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers. PMID:34011927
Prediction of Synergistic Drug Combinations for Prostate Cancer by Transcriptomic and Network Characteristics. PMID:33986671
Rare Coding Variants Associated with Breast Cancer. PMID:33983593
MiR-3130-5p is an intermediate modulator of 2q33 and influences the invasiveness of lung adenocarcinoma by targeting NDUFS1. PMID:33978320
CD28 Genetic Variants Increase Susceptibility to Diabetic Kidney Disease in Chinese Patients with Type 2 Diabetes: A Cross-Sectional Case Control Study. PMID:33958973
Enhancer rewiring in tumors: an opportunity for therapeutic intervention. PMID:33934105
Antiphospholipid Syndrome Alliance for Clinical Trials and International Networking (APS ACTION): 10-Year Update. PMID:33932165
Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci. PMID:33931109
The impact of non-additive genetic associations on age-related complex diseases. PMID:33893285
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
Mendelian Randomization With Refined Instrumental Variables From Genetic Score Improves Accuracy and Reduces Bias. PMID:33868364
Genetic Architecture of Depression: Where Do We Stand Now? PMID:33834402
ConceptWAS: A high-throughput method for early identification of COVID-19 presenting symptoms and characteristics from clinical notes. PMID:33774203
An interdependent network of functional enhancers regulates transcription and EZH2 loading at the INK4a/ARF locus. PMID:33761351
Enhancer-associated aortic valve stenosis risk locus 1p21.2 alters NFATC2 binding site and promotes fibrogenesis. PMID:33748722
Analysis of risk allele frequencies of single nucleotide polymorphisms related to open-angle glaucoma in different ethnic groups. PMID:33726755
Integration of summary data from GWAS and eQTL studies identified novel risk genes for coronary artery disease. PMID:33725943
Common and Rare Variants Genetic Association Analysis of Circulating Neutrophil Extracellular Traps. PMID:33717105
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. PMID:33713608
Aptardi predicts polyadenylation sites in sample-specific transcriptomes using high-throughput RNA sequencing and DNA sequence. PMID:33712618
Incorporation of DNA methylation into eQTL mapping in African Americans. PMID:33691021
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. PMID:33680884
Non-coding Single Nucleotide Variants of Renin and the (Pro)renin Receptor are Associated with Polygenic Diseases in a Bangladeshi Population. PMID:33677630
A potential association of RNF219-AS1 with ADHD: Evidence from categorical analysis of clinical phenotypes and from quantitative exploration of executive function and white matter microstructure endophenotypes. PMID:33644999
Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci. PMID:33634981
A Correlation Analysis between SNPs and ROIs of Alzheimer's Disease Based on Deep Learning. PMID:33628827
The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans. PMID:33605984
Risk SNP-induced lncRNA-SLCC1 drives colorectal cancer through activating glycolysis signaling. PMID:33602893
Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth. PMID:33590300
Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis. PMID:33589587
A Review of Statistical Methods for Identifying Trait-Relevant Tissues and Cell Types. PMID:33584792
Hepatocyte nuclear factor 1 beta: A perspective in cancer. PMID:33580750
Identification and analysis of consensus RNA motifs binding to the genome regulator CTCF. PMID:33575587
Family-specific analysis of variant pathogenicity prediction tools. PMID:33575576
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. PMID:33574314
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. PMID:33568819
Gene networks and pathways for plasma lipid traits via multitissue multiomics systems analysis. PMID:33561811
Coupled mixed model for joint genetic analysis of complex disorders with two independently collected data sets. PMID:33546598
EpiMOGA: An Epistasis Detection Method Based on a Multi-Objective Genetic Algorithm. PMID:33525573
Dynamic CTCF binding directly mediates interactions among cis-regulatory elements essential for hematopoiesis. PMID:33512425
Elucidation of the Genomic-Epigenomic Interaction Landscape of Aggressive Prostate Cancer. PMID:33511206
Genetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study. PMID:33510439
Meta-analysis of SNP-environment interaction with heterogeneity for overlapping data. PMID:33510406
Transcriptionally active enhancers in human cancer cells. PMID:33502116
Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth. PMID:33500570
Semi-parametric empirical Bayes factor for genome-wide association studies. PMID:33495595
Gene co-expression in the interactome: moving from correlation toward causation via an integrated approach to disease module discovery. PMID:33479222
Dystonia and Myelopathy in a Case of Stress-Induced Childhood-Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS). PMID:33426173
Transcriptomic landscaping of core genes and pathways of mild and severe psoriasis vulgaris. PMID:33416099
Accurate, scalable cohort variant calls using DeepVariant and GLnexus. PMID:33399819
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility. PMID:33398303
Long tracks of homozygosity predict the severity of alcohol use disorders in an American Indian population. PMID:33398086
Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B. PMID:33384439
Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism. PMID:33362545
AnnoLnc: A One-Stop Portal to Systematically Annotate Novel Human Long Noncoding RNAs. PMID:33326073
Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis. PMID:33320851
A reference catalog of DNA palindromes in the human genome and their variations in 1000 Genomes. PMID:33298903
Robustness and lethality in multilayer biological molecular networks. PMID:33247151
Qtlizer: comprehensive QTL annotation of GWAS results. PMID:33235230
Population demographic history and population structure for Pakistani Nili-Ravi breeding bulls based on SNP genotyping to identify genomic regions associated with male effects for milk yield and body weight. PMID:33232358
Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data. PMID:33230199
LincSNP 3.0: an updated database for linking functional variants to human long non-coding RNAs, circular RNAs and their regulatory elements. PMID:33219661
Genome-Wide Scan for Five Brain Oscillatory Phenotypes Identifies a New QTL Associated with Theta EEG Band. PMID:33218114
Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants. PMID:33199988
Functionally informed fine-mapping and polygenic localization of complex trait heritability. PMID:33199916
Combining artificial intelligence: deep learning with Hi-C data to predict the functional effects of non-coding variants. PMID:33196774
A Novel Three-Stage Framework for Association Analysis Between SNPs and Brain Regions. PMID:33193677
PRAP1 is a novel lipid-binding protein that promotes lipid absorption by facilitating MTTP-mediated lipid transport. PMID:33168624
The association of clinical phenotypes to known AD/FTD genetic risk loci and their inter-relationship. PMID:33152005
Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. PMID:33144568
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. PMID:33138774
Systems pharmacology approach uncovers Ligustilide attenuates experimental colitis in mice by inhibiting PPARγ-mediated inflammation pathways. PMID:33130971
ATACdb: a comprehensive human chromatin accessibility database. PMID:33125076
circVAR database: genome-wide archive of genetic variants for human circular RNAs. PMID:33121433
An optimal kernel-based multivariate U-statistic to test for associations with multiple phenotypes. PMID:33108446
Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals. PMID:33082346
Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets. PMID:33066754
Integrative genomics analysis identifies promising SNPs and genes implicated in tuberculosis risk based on multiple omics datasets. PMID:33051402
RMVar: an updated database of functional variants involved in RNA modifications. PMID:33021671
Placental Epigenome-Wide Association Study Identified Loci Associated with Childhood Adiposity at 3 Years of Age. PMID:33003475
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. PMID:32991828
Network-Based Analysis Reveals Association of FOXE1 Gene Polymorphisms in Thyroid Cancer Patients; A Case-Control Study in Southeast of Iran. PMID:32986379
Leveraging correlations between variants in polygenic risk scores to detect heterogeneity in GWAS cohorts. PMID:32956347
Integrative omics analysis identifies macrophage migration inhibitory factor signaling pathways underlying human hepatic fibrogenesis and fibrosis. PMID:32953199
Systems pharmacology-based approach to investigate the mechanisms of Danggui-Shaoyao-san prescription for treatment of Alzheimer's disease. PMID:32948180
Generalizability of "GWAS Hits" in Clinical Populations: Lessons from Childhood Cancer Survivors. PMID:32946765
Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways. PMID:32917770
Incorporating prior knowledge into regularized regression. PMID:32915960
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population. PMID:32902719
PCOSKBR2: a database of genes, diseases, pathways, and networks associated with polycystic ovary syndrome. PMID:32895427
A Likelihood Ratio Test for Gene-Environment Interaction Based on the Trend Effect of Genotype Under an Additive Risk Model Using the Gene-Environment Independence Assumption. PMID:32870973
Genetics of Smoking Behaviors in American Indians. PMID:32855268
Ambient Temperature is A Strong Selective Factor Influencing Human Development and Immunity. PMID:32822870
High genetic burden of type 2 diabetes can promote the high prevalence of disease: a longitudinal cohort study in Iran. PMID:32814780
Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL). PMID:32803091
Epigenetic Mechanisms of Inflammasome Regulation. PMID:32796686
Holo-Omics: Integrated Host-Microbiota Multi-omics for Basic and Applied Biological Research. PMID:32777774
Polygenic Risk Scores for Subtyping of Schizophrenia. PMID:32774919
Genome-Wide Association Study of Liver Fat: The Multiethnic Cohort Adiposity Phenotype Study. PMID:32766472
Risk of pre-eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case-control study. PMID:32741103
Mitochondrial pathways in human health and aging. PMID:32738358
Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer. PMID:32724790
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis. PMID:32699404
Mitochondrial haplotypes affect metabolic phenotypes in the Drosophila Genetic Reference Panel. PMID:32694676
PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins. PMID:32665031
A sequential methodology for the rapid identification and characterization of breast cancer-associated functional SNPs. PMID:32620845
Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens. PMID:32614437
Age-of-onset information helps identify 76 genetic variants associated with allergic disease. PMID:32603359
Enhancer-Gene Interaction Analyses Identified the Epidermal Growth Factor Receptor as a Susceptibility Gene for Type 2 Diabetes Mellitus. PMID:32602275
Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits. PMID:32591342
The genetic risk for hypertension is lower among the Hungarian Roma population compared to the general population. PMID:32555714
VitiVar: A locus specific database of vitiligo associated genes and variations. PMID:32550548
Genetic Risk Scores for Complex Disease Traits in Youth. PMID:32527150
PS4DR: a multimodal workflow for identification and prioritization of drugs based on pathway signatures. PMID:32503412
DNA methylation loci in placenta associated with birthweight and expression of genes relevant for early development and adult diseases. PMID:32493484
A fully joint Bayesian quantitative trait locus mapping of human protein abundance in plasma. PMID:32492067
Genomic resources for dissecting the role of non-protein coding variation in gene-environment interactions. PMID:32450112
Enhancer Predictions and Genome-Wide Regulatory Circuits. PMID:32443951
Dynamic landscape and evolution of m6A methylation in human. PMID:32406913
Turning strains into strengths for understanding psychiatric disorders. PMID:32404949
Genomic analysis of diet composition finds novel loci and associations with health and lifestyle. PMID:32393786
Bioinformatics analyses and biological function of lncRNA ZFPM2-AS1 and ZFPM2 gene in hepatocellular carcinoma. PMID:32382322
The Role of Genetic Variation of BMI, Body Composition, and Fat Distribution for Mental Traits and Disorders: A Look-Up and Mendelian Randomization Study. PMID:32373164
Translating insights from neuropsychiatric genetics and genomics for precision psychiatry. PMID:32349784
Leveraging gene co-expression patterns to infer trait-relevant tissues in genome-wide association studies. PMID:32310941
Discovery of novel hepatocyte eQTLs in African Americans. PMID:32310939
Genetics of frailty: A longevity perspective. PMID:32289255
Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia. PMID:32284663
A comparison of robust Mendelian randomization methods using summary data. PMID:32249995
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. PMID:32246154
Genotyping Array Design and Data Quality Control in the Million Veteran Program. PMID:32243820
Adaptive Fisher method detects dense and sparse signals in association analysis of SNV sets. PMID:32241265
A Systematic Bioinformatics Workflow With Meta-Analytics Identified Potential Pathogenic Factors of Alzheimer's Disease. PMID:32231518
Translation of mouse model to human gives insights into periodontitis etiology. PMID:32184465
Dysregulated Antibody, Natural Killer Cell and Immune Mediator Profiles in Autoimmune Thyroid Diseases. PMID:32182948
LDlinkR: An R Package for Rapidly Calculating Linkage Disequilibrium Statistics in Diverse Populations. PMID:32180801
Single-Nucleotide Polymorphisms (SNP) Mining and Their Effect on the Tridimensional Protein Structure Prediction in a Set of Immunity-Related Expressed Sequence Tags (EST) in Atlantic Salmon (Salmo salar). PMID:32174954
Statistical significance: p value, 0.05 threshold, and applications to radiomics-reasons for a conservative approach. PMID:32157489
Three-dimensional genome: developmental technologies and applications in precision medicine. PMID:32152365
Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features. PMID:32144282
Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk. PMID:32128252
Transcriptome analysis reveals the difference between "healthy" and "common" aging and their connection with age-related diseases. PMID:32077223
A high-resolution HLA imputation system for the Taiwanese population: a study of the Taiwan Biobank. PMID:32042094
Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis. PMID:32024996
Decreased Immunoglobulin G Core Fucosylation, A Player in Antibody-dependent Cell-mediated Cytotoxicity, is Associated with Autoimmune Thyroid Diseases. PMID:32024769
The effects of common structural variants on 3D chromatin structure. PMID:32000688
eQTLMAPT: Fast and Accurate eQTL Mediation Analysis With Efficient Permutation Testing Approaches. PMID:31998368
Genome wide association study of incomplete hippocampal inversion in adolescents. PMID:31990937
Exploring genetic targets of psoriasis using genome wide association studies (GWAS) for drug repurposing. PMID:31988837
Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis. PMID:31959851
Disruption of a RAC1-centred network is associated with Alzheimer's disease pathology and causes age-dependent neurodegeneration. PMID:31942999
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. PMID:31937769
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. PMID:31919418
HiSSI: high-order SNP-SNP interactions detection based on efficient significant pattern and differential evolution. PMID:31888641
Region-based interaction detection in genome-wide case-control studies. PMID:31888606
Enhancer jungles establish robust tissue-specific regulatory control in the human genome. PMID:31887344
Identification of infectious disease-associated host genes using machine learning techniques. PMID:31881961
Deep mixed model for marginal epistasis detection and population stratification correction in genome-wide association studies. PMID:31881907
Evaluation of polymorphisms in microRNA-binding sites and pancreatic cancer risk in Chinese population. PMID:31880394
Identification of Regulatory Modules That Stratify Lupus Disease Mechanism through Integrating Multi-Omics Data. PMID:31877408
Transcriptional profiling of microglia; current state of the art and future perspectives. PMID:31846124
Overlapping genetic architecture between Parkinson disease and melanoma. PMID:31845298
A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in southern Chinese men. PMID:31842750
Refining genome-wide associated loci for serum uric acid in individuals with African ancestry. PMID:31841133
CaptureProbe: a java tool for designing probes for capture Hi-C applications. PMID:31840950
Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval. PMID:31830040
Mapping the Germline and Somatic Mutation Interaction Landscape in Indolent and Aggressive Prostate Cancers. PMID:31814827
Exploring the Causal Pathway From Telomere Length to Alzheimer's Disease: An Update Mendelian Randomization Study. PMID:31803085
CERENKOV3: Clustering and molecular network-derived features improve computational prediction of functional noncoding SNPs. PMID:31797625
Novel genetic loci affecting facial shape variation in humans. PMID:31763980
LINC01149 variant modulates MICA expression that facilitates hepatitis B virus spontaneous recovery but increases hepatocellular carcinoma risk. PMID:31754211
The Human Immunopeptidome Project: A Roadmap to Predict and Treat Immune Diseases. PMID:31744855
A meta-analysis of genome-wide association studies of epigenetic age acceleration. PMID:31738745
Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers. PMID:31727947
PCOSBase: a manually curated database of polycystic ovarian syndrome. PMID:31725861
Ultralow amounts of DNA from long-term archived serum samples produce quality genotypes. PMID:31719661
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. PMID:31686214
Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy. PMID:31679650
Advances in asthma and allergic disease genetics: Is bigger always better? PMID:31677964
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
Genetic contributions to NAFLD: leveraging shared genetics to uncover systems biology. PMID:31641249
A cellular and bioinformatics analysis of the SENP1 SUMO isopeptidase in pancreatic cancer. PMID:31602319
Association between mitochondrial genetic variation and breast cancer risk: The Multiethnic Cohort. PMID:31577800
Integrating Genome-Wide Association Studies With Pathway Analysis and Gene Expression Analysis Highlights Novel Osteoarthritis Risk Pathways and Genes. PMID:31572443
GWAS Atlas: a curated resource of genome-wide variant-trait associations in plants and animals. PMID:31566222
Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids. PMID:31566214
A Geometric Perspective on the Power of Principal Component Association Tests in Multiple Phenotype Studies. PMID:31564761
Model-based clustering for identifying disease-associated SNPs in case-control genome-wide association studies. PMID:31548641
Discovering genetic interactions bridging pathways in genome-wide association studies. PMID:31537791
SNV identification from single-cell RNA sequencing data. PMID:31504520
Regulatory annotation of genomic intervals based on tissue-specific expression QTLs. PMID:31504167
A compendium of promoter-centered long-range chromatin interactions in the human genome. PMID:31501517
Enhancer variants associated with Alzheimer's disease affect gene expression via chromatin looping. PMID:31500627
Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology. PMID:31492854
Gut Microbiota Has a Widespread and Modifiable Effect on Host Gene Regulation. PMID:31481602
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS). PMID:31469246
A unified encyclopedia of human functional DNA elements through fully automated annotation of 164 human cell types. PMID:31462275
Identification of Cancer-Related Long Non-Coding RNAs Using XGBoost With High Accuracy. PMID:31456817
Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits. PMID:31444360
Novel age-associated DNA methylation changes and epigenetic age acceleration in middle-aged African Americans and whites. PMID:31426852
Development of a general logistic model for disease risk prediction using multiple SNPs. PMID:31423732
Integrated Analysis of DNA Methylation and Biochemical/Metabolic Parameter During the Long-Term Isolation Environment. PMID:31402871
Predicting the effects of SNPs on transcription factor binding affinity. PMID:31373606
Mechanistic interpretation of non-coding variants for discovering transcriptional regulators of drug response. PMID:31362726
The Progress of CRISPR/Cas9-Mediated Gene Editing in Generating Mouse/Zebrafish Models of Human Skeletal Diseases. PMID:31360334
A machine-compiled database of genome-wide association studies. PMID:31350405
Overlap of Genetic Risk between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis. PMID:31339356
Transcriptome-Wide Association Supplements Genome-Wide Association in Zea mays. PMID:31337639
Prioritization of Variants for Investigation of Genotype-Directed Nutrition in Human Superpopulations. PMID:31323740
Systematic discovery of conservation states for single-nucleotide annotation of the human genome. PMID:31286065
Human Systems Biology and Metabolic Modelling: A Review-From Disease Metabolism to Precision Medicine. PMID:31281846
Mendelian randomization: the challenge of unobserved environmental confounds. PMID:31263889
Maternal and Post-weaning High-Fat Diets Produce Distinct DNA Methylation Patterns in Hepatic Metabolic Pathways within Specific Genomic Contexts. PMID:31262088
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure. PMID:31235787
Predicting functional variants in enhancer and promoter elements using RegulomeDB. PMID:31228310
Genome-wide enhancer annotations differ significantly in genomic distribution, evolution, and function. PMID:31221079
Protein-Protein Interaction Network Analysis Reveals Several Diseases Highly Associated with Polycystic Ovarian Syndrome. PMID:31216618
Significance testing and genomic inflation factor using high-density genotypes or whole-genome sequence data. PMID:31215703
Methylome-wide association study provides evidence of particulate matter air pollution-associated DNA methylation. PMID:31208937
Novel idiopathic pulmonary fibrosis susceptibility variants revealed by deep sequencing. PMID:31205927
Genes for Good: Engaging the Public in Genetics Research via Social Media. PMID:31204010
Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb. PMID:31194742
Association Between Premorbid Body Mass Index and Amyotrophic Lateral Sclerosis: Causal Inference Through Genetic Approaches. PMID:31178821
Sex hormone binding globulin and risk of breast cancer: a Mendelian randomization study. PMID:31143958
Long non-coding RNAs in the spinal cord injury: Novel spotlight. PMID:31140726
WhoGEM: an admixture-based prediction machine accurately predicts quantitative functional traits in plants. PMID:31138283
Epidemiology, genetic epidemiology and Mendelian randomisation: more need than ever to attend to detail. PMID:31134333
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. PMID:31118516
ALS blood expression profiling identifies new biomarkers, patient subgroups, and evidence for neutrophilia and hypoxia. PMID:31118040
ImmuneRegulation: a web-based tool for identifying human immune regulatory elements. PMID:31114925
Genetic and epigenetic regulation of human aging and longevity. PMID:31109447
Detection of circular RNA expression and related quantitative trait loci in the human dorsolateral prefrontal cortex. PMID:31109370
Genome-wide analysis revealed sex-specific gene expression in asthmatics. PMID:31095684
Fine-mapping of a novel premenopausal breast cancer susceptibility locus at Chr4q31.22 in Caucasian women and validation in African and Chinese women. PMID:31087647
Genetic and Real-World Clinical Data, Combined with Empirical Validation, Nominate Jak-Stat Signaling as a Target for Alzheimer's Disease Therapeutic Development. PMID:31072055
Targeted, High-Resolution RNA Sequencing of Non-coding Genomic Regions Associated With Neuropsychiatric Functions. PMID:31031799
Mendelian randomization analysis using mixture models for robust and efficient estimation of causal effects. PMID:31028273
Interactions between Germline and Somatic Mutated Genes in Aggressive Prostate Cancer. PMID:31007957
FeatSNP: An Interactive Database for Brain-Specific Epigenetic Annotation of Human SNPs. PMID:31001319
Network and Pathway-Based Analysis of Single-Nucleotide Polymorphism of miRNA in Temporal Lobe Epilepsy. PMID:30968344
Identification of microsatellite markers and their application in yellow catfish (Pseudobagrus fulvidraco Richardson, 1846) population genetics of Korea. PMID:30945683
Genetic and observational evidence supports a causal role of sex hormones on the development of asthma. PMID:30936389
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. PMID:30929738
Identification of trans-eQTLs using mediation analysis with multiple mediators. PMID:30925861
A genome-wide association study on photic sneeze reflex in the Chinese population. PMID:30899065
Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases. PMID:30871624
Automatic Human-like Mining and Constructing Reliable Genetic Association Database with Deep Reinforcement Learning. PMID:30864315
GREP: genome for REPositioning drugs. PMID:30859178
Mechanism-based disease similarity. PMID:30854526
Identifying Multi-Omics Causers and Causal Pathways for Complex Traits. PMID:30847004
Protocols, Methods, and Tools for Genome-Wide Association Studies (GWAS) of Dental Traits. PMID:30838596
Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences. PMID:30838127
Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes. PMID:30827501
DDT exposure during pregnancy and DNA methylation alterations in female offspring in the Child Health and Development Study. PMID:30822522
Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. PMID:30809243
Evolutionary Loss of Genomic Proximity to Conserved Noncoding Elements Impacted the Gene Expression Dynamics During Mammalian Brain Development. PMID:30796012
PheWAS-Based Systems Genetics Methods for Anti-Breast Cancer Drug Discovery. PMID:30781719
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR. PMID:30774981
Analysis of Topological Parameters of Complex Disease Genes Reveals the Importance of Location in a Biomolecular Network. PMID:30769902
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans. PMID:30765821
Using topic modeling via non-negative matrix factorization to identify relationships between genetic variants and disease phenotypes: A case study of Lipoprotein(a) (LPA). PMID:30759150
CERENKOV2: improved detection of functional noncoding SNPs using data-space geometric features. PMID:30727967
EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data. PMID:30722045
Self-Adjusting Ant Colony Optimization Based on Information Entropy for Detecting Epistatic Interactions. PMID:30717303
Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia. PMID:30705251
A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study. PMID:30704471
Crosstalk of Genetic Variants, Allele-Specific DNA Methylation, and Environmental Factors for Complex Disease Risk. PMID:30687383
From Genotype to Phenotype: Through Chromatin. PMID:30678090
Genetic and environmental risk factors for chronic kidney disease. PMID:30675423
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. PMID:30670697
Prediction of Alzheimer's Disease-Associated Genes by Integration of GWAS Summary Data and Expression Data. PMID:30666269
DNA methylation variability in Alzheimer's disease. PMID:30660039
Leveraging Human Genetics to Guide Cancer Drug Development. PMID:30652614
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. PMID:30643258
POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. PMID:30643196
Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression. PMID:30626913
A scientometric review of genome-wide association studies. PMID:30623105
Plasma Protein Biomarkers for the Prediction of CSF Amyloid and Tau and [18F]-Flutemetamol PET Scan Result. PMID:30618716
Most chromatin interactions are not in linkage disequilibrium. PMID:30617125
EFMDR-Fast: An Application of Empirical Fuzzy Multifactor Dimensionality Reduction for Fast Execution. PMID:30602098
CRlncRC: a machine learning-based method for cancer-related long noncoding RNA identification using integrated features. PMID:30598114
Large-scale mining disease comorbidity relationships from post-market drug adverse events surveillance data. PMID:30591027
Ancient exapted transposable elements promote nuclear enrichment of human long noncoding RNAs. PMID:30587508
A resource of variant effect predictions of single nucleotide variants in model organisms. PMID:30573687
Additional value of a combined genetic risk score to standard cardiovascular stratification. PMID:30571812
Prenatal Bisphenol A Exposure in Mice Induces Multitissue Multiomics Disruptions Linking to Cardiometabolic Disorders. PMID:30566610
Association of Genetic Variation at AQP4 Locus with Vascular Depression. PMID:30563176
Personalized Medicine and Molecular Interaction Networks in Amyotrophic Lateral Sclerosis (ALS): Current Knowledge. PMID:30551677
Gene-environment interactions and colorectal cancer risk: An umbrella review of systematic reviews and meta-analyses of observational studies. PMID:30536881
PathFX provides mechanistic insights into drug efficacy and safety for regulatory review and therapeutic development. PMID:30532240
NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants. PMID:30528300
GM604 regulates developmental neurogenesis pathways and the expression of genes associated with amyotrophic lateral sclerosis. PMID:30524706
A map of direct TF-DNA interactions in the human genome. PMID:30517703
Identification of 55,000 Replicated DNA Methylation QTL. PMID:30514905
Whole genome sequencing of a MAGIC population identified genomic loci and candidate genes for major fiber quality traits in upland cotton (Gossypium hirsutum L.). PMID:30506522
Mapping a diversity of genetic interactions in yeast. PMID:30505984
Identification of gene expression profiles in myocardial infarction: a systematic review and meta-analysis. PMID:30482209
Genetic, Transcriptome, Proteomic, and Epidemiological Evidence for Blood-Brain Barrier Disruption and Polymicrobial Brain Invasion as Determinant Factors in Alzheimer's Disease. PMID:30480234
Pipeline design to identify key features and classify the chemotherapy response on lung cancer patients using large-scale genetic data. PMID:30458782
Development and evaluation of a transfusion medicine genome wide genotyping array. PMID:30456907
Changes of Cell Biochemical States Are Revealed in Protein Homomeric Complex Dynamics. PMID:30454649
SNPs and Somatic Mutation on Long Non-Coding RNA: New Frontier in the Cancer Studies? PMID:30453571
Genetic variants influence on the placenta regulatory landscape. PMID:30452450
High-Throughput Identification of the Plasma Proteomic Signature of Inflammatory Bowel Disease. PMID:30445421
Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. PMID:30423114
Accurate and adaptive imputation of summary statistics in mixed-ethnicity cohorts. PMID:30423082
The Pathogenesis of Atherosclerosis Based on Human Signaling Networks and Stem Cell Expression Data. PMID:30416382
Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity. PMID:30407537
Microbiome-microglia connections via the gut-brain axis. PMID:30385457
Childhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study. PMID:30373671
SEdb: a comprehensive human super-enhancer database. PMID:30371817
EWAS Atlas: a curated knowledgebase of epigenome-wide association studies. PMID:30364969
Using Adipose Measures from Health Care Provider-Based Imaging Data for Discovery. PMID:30363675
Quantitative and systems pharmacology 4. Network-based analysis of drug pleiotropy on coronary artery disease. PMID:30359818
PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants. PMID:30359302
Heterogeneous network embedding for identifying symptom candidate genes. PMID:30357378
An integrative tissue-network approach to identify and test human disease genes. PMID:30346941
Genomic and Phenomic Research in the 21st Century. PMID:30342790
Gene-based GWAS analysis for consecutive studies of GEFOS. PMID:30306226
The UK Biobank resource with deep phenotyping and genomic data. PMID:30305743
Uncovering association networks through an eQTL analysis involving human miRNAs and lincRNAs. PMID:30301969
Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits. PMID:30290150
Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. PMID:30289880
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. PMID:30277539
A survey of inter-individual variation in DNA methylation identifies environmentally responsive co-regulated networks of epigenetic variation in the human genome. PMID:30273333
Molecular Biomarkers for Gestational Diabetes Mellitus. PMID:30261627
Long Noncoding RNA Signatures Induced by Toll-Like Receptor 7 and Type I Interferon Signaling in Activated Human Plasmacytoid Dendritic Cells. PMID:30230983
Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease. PMID:30224808
Drug Repurposing of Metabolic Agents in Malignant Glioma. PMID:30223473
Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci. PMID:30218097
Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus. PMID:30209331
Genomic region detection via Spatial Convex Clustering. PMID:30204756
Pancan-meQTL: a database to systematically evaluate the effects of genetic variants on methylation in human cancer. PMID:30203047
Exploring predictive biomarkers from clinical genome-wide association studies via multidimensional hierarchical mixture models. PMID:30202041
Hepatic Ago2-mediated RNA silencing controls energy metabolism linked to AMPK activation and obesity-associated pathophysiology. PMID:30201950
Integrative Analysis of lncRNAs in Th17 Cell Lineage to Discover New Potential Biomarkers and Therapeutic Targets in Autoimmune Diseases. PMID:30195777
Prediction model for pancreatic cancer risk in the general Japanese population. PMID:30192808
Redefining environmental exposure for disease etiology. PMID:30181901
A Comprehensive Map of Genetic Variation in the World's Largest Ethnic Group-Han Chinese. PMID:30169787
Loss of LDAH associated with prostate cancer and hearing loss. PMID:30169630
PCA-based GRS analysis enhances the effectiveness for genetic correlation detection. PMID:30169568
Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. PMID:30166351
MERIT: Systematic Analysis and Characterization of Mutational Effect on RNA Interactome Topology. PMID:30153342
A Chromatin Basis for Cell Lineage and Disease Risk in the Human Pancreas. PMID:30145115
The Collaborative Cross mouse model for dissecting genetic susceptibility to infectious diseases. PMID:30143822
Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue. PMID:30142156
Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci. PMID:30139913
INFERNO: inferring the molecular mechanisms of noncoding genetic variants. PMID:30113658
Age at puberty and risk of asthma: A Mendelian randomisation study. PMID:30086135
Genome-wide association study results for educational attainment aid in identifying genetic heterogeneity of schizophrenia. PMID:30082721
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
fGWAS: An R package for genome-wide association analysis with longitudinal phenotypes. PMID:30049619
Enhancer histone-QTLs are enriched on autoimmune risk haplotypes and influence gene expression within chromatin networks. PMID:30046115
Shared mechanisms among neurodegenerative diseases: from genetic factors to gene networks. PMID:30027910
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. PMID:30019117
A monocyte gene expression signature in the early clinical course of Parkinson's disease. PMID:30018301
An unsupervised machine learning method for discovering patient clusters based on genetic signatures. PMID:30016722
Proper conditional analysis in the presence of missing data: Application to large scale meta-analysis of tobacco use phenotypes. PMID:30016313
Rac1 activation links tau hyperphosphorylation and Aβ dysmetabolism in Alzheimer's disease. PMID:30005699
Network-based approach to prediction and population-based validation of in silico drug repurposing. PMID:30002366
An approach to estimate bidirectional mediation effects with application to body mass index and fasting glucose. PMID:29993118
Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics. PMID:29990020
Scleral hypoxia is a target for myopia control. PMID:29987045
Genetic Modifiers in Neurodegeneration. PMID:29977663
Comparison of methods for transcriptome imputation through application to two common complex diseases. PMID:29976976
Fast score test with global null estimation regardless of missing genotypes. PMID:29975732
Systematic approach demonstrates enrichment of multiple interactions between non-HLA risk variants and HLA-DRB1 risk alleles in rheumatoid arthritis. PMID:29967194
PASSPORT-seq: A Novel High-Throughput Bioassay to Functionally Test Polymorphisms in Micro-RNA Target Sites. PMID:29963077
Jointly Modelling Single Nucleotide Polymorphisms With Longitudinal and Time-to-Event Trait: An Application to Type 2 Diabetes and Fasting Plasma Glucose. PMID:29963075
A Genome-Wide Association Study of α-Synuclein Levels in Cerebrospinal Fluid. PMID:29959729
Causal Inference in Cancer Epidemiology: What Is the Role of Mendelian Randomization? PMID:29941659
Gene Regulatory Network Perturbation by Genetic and Epigenetic Variation. PMID:29941230
Fonduer: Knowledge Base Construction from Richly Formatted Data. PMID:29937618
Proximal Pathway Enrichment Analysis for Targeting Comorbid Diseases via Network Endopharmacology. PMID:29932108
ZNF341 controls STAT3 expression and thereby immunocompetence. PMID:29907690
Principled multi-omic analysis reveals gene regulatory mechanisms of phenotype variation. PMID:29898900
Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations. PMID:29895819
Multi-ethnic genome-wide association study for atrial fibrillation. PMID:29892015
Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood. PMID:29891976
Modifier locus mapping of a transgenic F2 mouse population identifies CCDC115 as a novel aggressive prostate cancer modifier gene in humans. PMID:29890952
Learning Opportunities for Drug Repositioning via GWAS and PheWAS Findings. PMID:29888080
CATCH-KB: Establishing a Pharmacogenomics Variant Repository for Chemotherapy-Induced Cardiotoxicity. PMID:29888066
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. PMID:29884787
Extending Causality Tests with Genetic Instruments: An Integration of Mendelian Randomization with the Classical Twin Design. PMID:29882082
Association between KIF1B (rs17401966) polymorphism and hepatocellular carcinoma susceptibility: a meta-analysis. PMID:29881295
Genomic atlas of the human plasma proteome. PMID:29875488
Testing Calibration of Cox Survival Models at Extremes of Event Risk. PMID:29872446
A survey of microRNA single nucleotide polymorphisms identifies novel breast cancer susceptibility loci in a case-control, population-based study of African-American women. PMID:29871690
The search for gene-gene interactions in genome-wide association studies: challenges in abundance of methods, practical considerations, and biological interpretation. PMID:29862246
A Phenome-Wide Association Study Uncovers a Role for Autoimmunity in the Development of Chronic Obstructive Pulmonary Disease. PMID:29856256
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs. PMID:29855537
African ancestry is associated with cluster-based childhood asthma subphenotypes. PMID:29855310
Combining mechanism-based prediction with patient-based profiling for psoriasis metabolomics biomarker discovery. PMID:29854244
Drug repositioning for prostate cancer: using a data-driven approach to gain new insights. PMID:29854243
Analysis of Genetic Variation Indicates DNA Shape Involvement in Purifying Selection. PMID:29850830
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden. PMID:29849176
The MR-Base platform supports systematic causal inference across the human phenome. PMID:29846171
Multiplexed enrichment of rare DNA variants via sequence-selective and temperature-robust amplification. PMID:29805844
High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing. PMID:29789573
Circulating Selenium and Prostate Cancer Risk: A Mendelian Randomization Analysis. PMID:29788239
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative. PMID:29779563
Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions. PMID:29763751
Global genetic differentiation of complex traits shaped by natural selection in humans. PMID:29760457
Novel functional variants at the GWAS-implicated loci might confer risk to major depressive disorder, bipolar affective disorder and schizophrenia. PMID:29745862
Empirical Bayes Estimation of Semi-parametric Hierarchical Mixture Models for Unbiased Characterization of Polygenic Disease Architectures. PMID:29740473
Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. PMID:29739929
Integration of Enhancer-Promoter Interactions with GWAS Summary Results Identifies Novel Schizophrenia-Associated Genes and Pathways. PMID:29728367
The Post-GWAS Era: From Association to Function. PMID:29727686
Genome sequencing in the clinic: the past, present, and future of genomic medicine. PMID:29727589
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection. PMID:29725052
High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development. PMID:29719267
An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation. PMID:29706346
Characterization of the enhancer and promoter landscape of inflammatory bowel disease from human colon biopsies. PMID:29695774
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. PMID:29691392
Unsupervised, Statistically Based Systems Biology Approach for Unraveling the Genetics of Complex Traits: A Demonstration with Ethanol Metabolism. PMID:29689131
The SNPcurator: literature mining of enriched SNP-disease associations. PMID:29688369
Genetic instrumental variable regression: Explaining socioeconomic and health outcomes in nonexperimental data. PMID:29686100
The role of genetic variation of human metabolism for BMI, mental traits and mental disorders. PMID:29673576
A systems biology approach to predict and characterize human gut microbial metabolites in colorectal cancer. PMID:29670137
A Systems Approach to Refine Disease Taxonomy by Integrating Phenotypic and Molecular Networks. PMID:29669699
Association analysis of multiple traits by an approach of combining P values. PMID:29666327
Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity. PMID:29662164
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders. PMID:29659871
Differential gene expression profiles in peripheral blood in Northeast Chinese Han people with acute myocardial infarction. PMID:29658970
Analyzing user interactions with biomedical ontologies: A visual perspective. PMID:29657560
A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver. PMID:29650998
Meta-analysis of airway epithelium gene expression in asthma. PMID:29650561
Bipartite graphs in systems biology and medicine: a survey of methods and applications. PMID:29648623
Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition. PMID:29632379
Genome-Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study). PMID:29622589
Enhancer variants reveal a conserved transcription factor network governed by PU.1 during osteoclast differentiation. PMID:29619268
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses. PMID:29618732
DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants. PMID:29617928
m6ASNP: a tool for annotating genetic variants by m6A function. PMID:29617790
Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes. PMID:29615537
Signatures of Long-Term Balancing Selection in Human Genomes. PMID:29608730
Facilitating Anti-Cancer Combinatorial Drug Discovery by Targeting Epistatic Disease Genes. PMID:29570606
Genomic and transcriptomic comparison of allergen and silver nanoparticle-induced mast cell degranulation reveals novel non-immunoglobulin E mediated mechanisms. PMID:29566008
A comprehensive catalog of predicted functional upstream open reading frames in humans. PMID:29562350
Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study. PMID:29555990
Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations. PMID:29547942
Delayed male germ cell sex-specification permits transition into embryonal carcinoma cells with features of primed pluripotency. PMID:29545285
Global analysis of A-to-I RNA editing reveals association with common disease variants. PMID:29527417
Re-assessment of multiple testing strategies for more efficient genome-wide association studies. PMID:29523830
The origins of breast cancer associated with mammographic density: a testable biological hypothesis. PMID:29514672
The importance of cohort studies in the post-GWAS era. PMID:29511284
Dissecting super-enhancer hierarchy based on chromatin interactions. PMID:29507293
A Bayesian Framework for Generalized Linear Mixed Modeling Identifies New Candidate Loci for Late-Onset Alzheimer's Disease. PMID:29507048
Gene Expression Meta-Analysis of Seven Candidate Gene Sets for Diabetes Traits Following a GWAS Pathway Study. PMID:29503662
Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits. PMID:29500431
Novel and Haplotype Specific MicroRNAs Encoded by the Major Histocompatibility Complex. PMID:29497078
A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans. PMID:29495422
Weak sharing of genetic association signals in three lung cancer subtypes: evidence at the SNP, gene, regulation, and pathway levels. PMID:29486777
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. PMID:29483656
Updates on Genome-Wide Association Findings in Eating Disorders and Future Application to Precision Medicine. PMID:29473515
Transcriptional Repressor HIC1 Contributes to Suppressive Function of Human Induced Regulatory T Cells. PMID:29466736
Identifying noncoding risk variants using disease-relevant gene regulatory networks. PMID:29453388
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog. PMID:29448949
Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis. PMID:29440655
Enhancer dysfunction in leukemia. PMID:29439951
DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus. PMID:29437559
Breast cancer family history and allele-specific DNA methylation in the legacy girls study. PMID:29436922
RNA-Seq Analysis of IL-1B and IL-36 Responses in Epidermal Keratinocytes Identifies a Shared MyD88-Dependent Gene Signature. PMID:29434599
Identification of a single nucleotide polymorphism indicative of high risk in acute myocardial infarction. PMID:29434065
Cardiovascular effects of metabolic syndrome after transplantation: convergence of obesity and transplant-related factors. PMID:29423213
"Bridge to the Literature"? Third-Party Genetic Interpretation Tools and the Views of Tool Developers. PMID:29411211
Transcriptional decomposition reveals active chromatin architectures and cell specific regulatory interactions. PMID:29402885
A phylogenetic method to perform genome-wide association studies in microbes that accounts for population structure and recombination. PMID:29401456
Transcriptomic alterations during ageing reflect the shift from cancer to degenerative diseases in the elderly. PMID:29382830
Host genetic variation and its microbiome interactions within the Human Microbiome Project. PMID:29378630
An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies. PMID:29378629
Identifying and exploiting trait-relevant tissues with multiple functional annotations in genome-wide association studies. PMID:29377896
Diet/lifestyle and risk of diabetes and glycemic traits: a Mendelian randomization study. PMID:29375034
Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo. PMID:29374152
Another Round of "Clue" to Uncover the Mystery of Complex Traits. PMID:29370075
Applying genomics in heart transplantation. PMID:29363220
Conserved and species-specific transcription factor co-binding patterns drive divergent gene regulation in human and mouse. PMID:29361190
Gene annotation bias impedes biomedical research. PMID:29358745
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. PMID:29358691
From Genomics to Omics Landscapes of Parkinson's Disease: Revealing the Molecular Mechanisms. PMID:29356624
Integrative Genomic Analysis Predicts Causative Cis-Regulatory Mechanisms of the Breast Cancer-Associated Genetic Variant rs4415084. PMID:29351903
Are minor alleles more likely to be risk alleles? PMID:29351777
Genome-wide association study of self-reported food reactions in Japanese identifies shrimp and peach specific loci in the HLA-DR/DQ gene region. PMID:29348432
Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing. PMID:29340042
Systematic target function annotation of human transcription factors. PMID:29325558
Toppar: an interactive browser for viewing association study results. PMID:29325066
Deep molecular phenotypes link complex disorders and physiological insult to CpG methylation. PMID:29325019
Genome-wide meta-analyses of stratified depression in Generation Scotland and UK Biobank. PMID:29317602
Simultaneous inference of phenotype-associated genes and relevant tissues from GWAS data via Bayesian integration of multiple tissue-specific gene networks. PMID:29300920
Obligatory and facilitative allelic variation in the DNA methylome within common disease-associated loci. PMID:29295990
Integration of Murine and Human Studies for Mapping Periodontitis Susceptibility. PMID:29294296
SNPs related to vitamin D and breast cancer risk: a case-control study. PMID:29291743
Intergenic disease-associated regions are abundant in novel transcripts. PMID:29284497
Phenotype inference in an Escherichia coli strain panel. PMID:29280730
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. PMID:29273806
Genome variation and conserved regulation identify genomic regions responsible for strain specific phenotypes in rat. PMID:29272997
Profile of common prostate cancer risk variants in an unscreened Romanian population. PMID:29266682
Effects of interactions between common genetic variants and smoking on colorectal cancer. PMID:29258461
Maternal diabetes and incidence of childhood cancer - a nationwide cohort study and exploratory genetic analysis. PMID:29238226
Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator. PMID:29234017
Population-Specific Associations of Deleterious Rare Variants in Coding Region of P2RY1-P2RY12 Purinergic Receptor Genes in Large-Vessel Ischemic Stroke Patients. PMID:29232918
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. PMID:29227965
Methods for meta-analysis of multiple traits using GWAS summary statistics. PMID:29226385
Genetic architecture: the shape of the genetic contribution to human traits and disease. PMID:29225335
Convergent downstream candidate mechanisms of independent intergenic polymorphisms between co-classified diseases implicate epistasis among noncoding elements. PMID:29218911
Local ancestry transitions modify snp-trait associations. PMID:29218902
How powerful are summary-based methods for identifying expression-trait associations under different genetic architectures? PMID:29218884
Association detection between ordinal trait and rare variants based on adaptive combination of P values. PMID:29215083
Influence of genetic ancestry and socioeconomic status on type 2 diabetes in the diverse Colombian populations of Chocó and Antioquia. PMID:29215035
Genetic Pleiotropy between Nicotine Dependence and Respiratory Outcomes. PMID:29203782
A Strategy for Identifying Quantitative Trait Genes Using Gene Expression Analysis and Causal Analysis. PMID:29186889
ASElux: an ultra-fast and accurate allelic reads counter. PMID:29186329
Functional mapping and annotation of genetic associations with FUMA. PMID:29184056
Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. PMID:29183403
Neuroimaging genomics in psychiatry-a translational approach. PMID:29179742
The ubiquity of pleiotropy in human disease. PMID:29164333
Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women. PMID:29158497
Using molecular functional networks to manifest connections between obesity and obesity-related diseases. PMID:29156709
Gene expression profiles indicate tissue-specific obesity regulation changes and strong obesity relevant tissues. PMID:29151593
Identification of Pleiotropic Cancer Susceptibility Variants from Genome-Wide Association Studies Reveals Functional Characteristics. PMID:29150481
Leveraging genome characteristics to improve gene discovery for putamen subcortical brain structure. PMID:29147026
Unique transcriptome signatures and GM-CSF expression in lymphocytes from patients with spondyloarthritis. PMID:29142230
Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus. PMID:29142228
NONCODEV5: a comprehensive annotation database for long non-coding RNAs. PMID:29140524
Functional annotation of structural ncRNAs within enhancer RNAs in the human genome: implications for human disease. PMID:29138457
Deep RNA Sequencing Uncovers a Repertoire of Human Macrophage Long Intergenic Noncoding RNAs Modulated by Macrophage Activation and Associated With Cardiometabolic Diseases. PMID:29133519
The Bell Curve Revisited: Testing Controversial Hypotheses with Molecular Genetic Data. PMID:29130056
Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases. PMID:29129848
Population differentiation in allele frequencies of obesity-associated SNPs. PMID:29126384
PAGER 2.0: an update to the pathway, annotated-list and gene-signature electronic repository for Human Network Biology. PMID:29126216
Autoimmunity as a Driving Force of Cognitive Evolution. PMID:29123465
The effect of genetic variation on promoter usage and enhancer activity. PMID:29116076
Polymorphisms in FFAR4 (GPR120) Gene Modulate Insulin Levels and Sensitivity after Fish Oil Supplementation. PMID:29113108
An evaluation of noncoding genome annotation tools through enrichment analysis of 15 genome-wide association studies. PMID:29106447
High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing. PMID:29106417
Dietary adaptation of FADS genes in Europe varied across time and geography. PMID:29094686
Chromatin interaction networks revealed unique connectivity patterns of broad H3K4me3 domains and super enhancers in 3D chromatin. PMID:29089515
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. PMID:29083406
lncRNASNP2: an updated database of functional SNPs and mutations in human and mouse lncRNAs. PMID:29077939
HEDD: Human Enhancer Disease Database. PMID:29077884
Enhancers looping to target genes. PMID:29074944
Identification of polymorphisms in cancer patients that differentially affect survival with age. PMID:29064820
Systematic identification of regulatory variants associated with cancer risk. PMID:29061142
Association analysis identifies 65 new breast cancer risk loci. PMID:29059683
Genetic Determinants of Breast Cancer Risk in Childhood Cancer Survivors. PMID:29059431
The AraGWAS Catalog: a curated and standardized Arabidopsis thaliana GWAS catalog. PMID:29059333
Estimating the causal tissues for complex traits and diseases. PMID:29058715
Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues. PMID:29058714
Exploring the genomic basis of early childhood caries: a pilot study. PMID:29057527
A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression. PMID:29056226
Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy. PMID:29051540
Epigenome-wide association study of asthma and wheeze in childhood and adolescence. PMID:29046734
Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing. PMID:29044207
RMBase v2.0: deciphering the map of RNA modifications from epitranscriptome sequencing data. PMID:29040692
Transcriptomic Landscape of Treatment-Naïve Ulcerative Colitis. PMID:29040430
Dynamic Organization of lncRNA and Circular RNA Regulators Collectively Controlled Cardiac Differentiation in Humans. PMID:29037607
m6AVar: a database of functional variants involved in m6A modification. PMID:29036329
PancanQTL: systematic identification of cis-eQTLs and trans-eQTLs in 33 cancer types. PMID:29036324
Genetic effects on gene expression across human tissues. PMID:29022597
The impact of rare variation on gene expression across tissues. PMID:29022581
The Genetics of Multiple Sclerosis: From 0 to 200 in 50 Years. PMID:28987266
A high-coverage Neandertal genome from Vindija Cave in Croatia. PMID:28982794
Detecting Long-Term Balancing Selection Using Allele Frequency Correlation. PMID:28981714
Cross-Phenotype Association Analysis Using Summary Statistics from GWAS. PMID:28980259
Whole exome-wide association study identifies a missense variant in SLC2A4RG associated with glioblastoma risk. PMID:28979815
Pathways to understanding the genomic aetiology of osteoarthritis. PMID:28977450
Applying family analyses to electronic health records to facilitate genetic research. PMID:28968884
HUMA: A platform for the analysis of genetic variation in humans. PMID:28967693
FIRE: functional inference of genetic variants that regulate gene expression. PMID:28961785
Genome-wide association studies using a penalized moving-window regression. PMID:28961706
Shared genetic risk between migraine and coronary artery disease: A genome-wide analysis of common variants. PMID:28957430
Shared genetic regulatory networks for cardiovascular disease and type 2 diabetes in multiple populations of diverse ethnicities in the United States. PMID:28957322
Identification of breast cancer associated variants that modulate transcription factor binding. PMID:28957321
Pathway-based discovery of genetic interactions in breast cancer. PMID:28957314
Human hepatic gene expression signature of non-alcoholic fatty liver disease progression, a meta-analysis. PMID:28955037
Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements. PMID:28945252
Establishing multiple omics baselines for three Southeast Asian populations in the Singapore Integrative Omics Study. PMID:28935855
Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. PMID:28928442
C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis. PMID:28922377
Genome-wide association studies of albuminuria: towards genetic stratification in diabetes? PMID:28918587
Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints. PMID:28904015
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy. PMID:28903782
A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. PMID:28892059
Genome-wide analysis of health-related biomarkers in the UK Household Longitudinal Study reveals novel associations. PMID:28887542
Increasing the power of meta-analysis of genome-wide association studies to detect heterogeneous effects. PMID:28881976
Genetic Associations with Gestational Duration and Spontaneous Preterm Birth. PMID:28877031
Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. PMID:28869591
Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. PMID:28869590
An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome. PMID:28869584
Schizophrenia genetics in the genome-wide era: a review of Japanese studies. PMID:28855529
Expression quantitative trait loci (eQTLs) in human placentas suggest developmental origins of complex diseases. PMID:28854703
Beyond editing to writing large genomes. PMID:28852223
Exploring regulation in tissues with eQTL networks. PMID:28851834
In silico prediction of novel therapeutic targets using gene-disease association data. PMID:28851378
Domain-based prediction of the human isoform interactome provides insights into the functional impact of alternative splicing. PMID:28846689
Identifying pleiotropic genes in genome-wide association studies from related subjects using the linear mixed model and Fisher combination function. PMID:28836938
Precision Nutrition: A Review of Personalized Nutritional Approaches for the Prevention and Management of Metabolic Syndrome. PMID:28829397
Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations. PMID:28828242
Nature, Nurture, and Cancer Risks: Genetic and Nutritional Contributions to Cancer. PMID:28826375
No Evidence That Schizophrenia Candidate Genes Are More Associated With Schizophrenia Than Noncandidate Genes. PMID:28823710
Search Datasets in Literature: A Case Study of GWAS. PMID:28815103
Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations. PMID:28814792
Open Chromatin Profiling in hiPSC-Derived Neurons Prioritizes Functional Noncoding Psychiatric Risk Variants and Highlights Neurodevelopmental Loci. PMID:28803920
Analytical Strategy to Prioritize Alzheimer's Disease Candidate Genes in Gene Regulatory Networks Using Public Expression Data. PMID:28800327
Evidence of selection as a cause for racial disparities in fibroproliferative disease. PMID:28792542
Implicating candidate genes at GWAS signals by leveraging topologically associating domains. PMID:28792001
Characterization of noncoding regulatory DNA in the human genome. PMID:28787426
Human genome-microbiome interaction: metagenomics frontiers for the aetiopathology of autoimmune diseases. PMID:28785422
Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure. PMID:28784648
Asparagine Synthetase deficiency-report of a novel mutation and review of literature. PMID:28776279
Diversity and inclusion in genomic research: why the uneven progress? PMID:28770442
SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese. PMID:28770234
Necroptosis activation in Alzheimer's disease. PMID:28758999
Population and allelic variation of A-to-I RNA editing in human transcriptomes. PMID:28754146
Approaches to detect genetic effects that differ between two strata in genome-wide meta-analyses: Recommendations based on a systematic evaluation. PMID:28749953
Bayesian association scan reveals loci associated with human lifespan and linked biomarkers. PMID:28748955
Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. PMID:28743860
DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease. PMID:28742119
Genetics of Schizophrenia: Ready to Translate? PMID:28741255
Novel risk genes for systemic lupus erythematosus predicted by random forest classification. PMID:28740209
Genetic and functional characterization of disease associations explains comorbidity. PMID:28740175
Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci. PMID:28719732
Variant Ranker: a web-tool to rank genomic data according to functional significance. PMID:28716001
Statistical correction of the Winner's Curse explains replication variability in quantitative trait genome-wide association studies. PMID:28715421
A wellness study of 108 individuals using personal, dense, dynamic data clouds. PMID:28714965
The utility of empirically assigning ancestry groups in cross-population genetic studies of addiction. PMID:28714599
Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner. PMID:28713270
Whole-transcriptome analysis delineates the human placenta gene network and its associations with fetal growth. PMID:28693416
Strength of functional signature correlates with effect size in autism. PMID:28687074
10 Years of GWAS Discovery: Biology, Function, and Translation. PMID:28686856
Dense Genotyping of Immune-Related Regions Identifies Loci for Rheumatoid Arthritis Risk and Damage in African Americans. PMID:28681901
Functional annotation of Alzheimer's disease associated loci revealed by GWASs. PMID:28650998
Structural and regulatory diversity shape HLA-C protein expression levels. PMID:28649982
Powerful Genetic Association Analysis for Common or Rare Variants with High-Dimensional Structured Traits. PMID:28642271
GWAS signals revisited using human knockouts. PMID:28640246
Rationale and design of the multiethnic Pharmacogenomics in Childhood Asthma consortium. PMID:28639505
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges. PMID:28634997
Regulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis. PMID:28634715
Identification of sequence variants influencing immunoglobulin levels. PMID:28628107
An Expanded View of Complex Traits: From Polygenic to Omnigenic. PMID:28622505
Improving the detection of pathways in genome-wide association studies by combined effects of SNPs from Linkage Disequilibrium blocks. PMID:28615668
A Decade of GWAS Results in Lung Cancer. PMID:28615365
Genetic loci associated with heart rate variability and their effects on cardiac disease risk. PMID:28613276
Epigenetic Combinatorial Patterns Predict Disease Variants. PMID:28611825
Genome-wide association study of heart rate and its variability in Hispanic/Latino cohorts. PMID:28610988
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS. PMID:28602423
Unique Allelic eQTL Clusters in Human MHC Haplotypes. PMID:28600441
MetabolitePredict: A de novo human metabolomics prediction system and its applications in rheumatoid arthritis. PMID:28600026
Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants. PMID:28592878
Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis. PMID:28588209
Literature evidence in open targets - a target validation platform. PMID:28587637
Transcriptional networks specifying homeostatic and inflammatory programs of gene expression in human aortic endothelial cells. PMID:28585919
Challenges and progress in interpretation of non-coding genetic variants associated with human disease. PMID:28581336
Application of pharmacogenomics to investigate adverse drug reactions to the disease-modifying treatments for multiple sclerosis: a case-control study protocol for dimethyl fumarate-induced lymphopenia. PMID:28576902
Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease. PMID:28575649
Gene-Diet Interactions in Type 2 Diabetes: The Chicken and Egg Debate. PMID:28574454
Network analysis of the genomic basis of the placebo effect. PMID:28570268
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data. PMID:28569218
Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants. PMID:28567521
Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. PMID:28564610
Comparison of single-marker and multi-marker tests in rare variant association studies of quantitative traits. PMID:28562689
HiSeeker: Detecting High-Order SNP Interactions Based on Pairwise SNP Combinations. PMID:28561745
pathVar: a new method for pathway-based interpretation of gene expression variability. PMID:28560097
A genome-wide quantitative trait locus (QTL) linkage scan of NEO personality factors in Latino families segregating bipolar disorder. PMID:28556497
Candidate gene analysis for Alzheimer's disease in adults with Down syndrome. PMID:28554490
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. PMID:28552196
GLADIATOR: a global approach for elucidating disease modules. PMID:28549478
An environment-dependent transcriptional network specifies human microglia identity. PMID:28546318
Identifying pathogenicity of human variants via paralog-based yeast complementation. PMID:28542158
Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. PMID:28537267
Recent advances in predicting gene-disease associations. PMID:28529714
A complete tool set for molecular QTL discovery and analysis. PMID:28516912
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease. PMID:28512778
Quantifying the mapping precision of genome-wide association studies using whole-genome sequencing data. PMID:28506277
In silico pathway analysis and tissue specific cis-eQTL for colorectal cancer GWAS risk variants. PMID:28506205
Major review: Molecular genetics of primary open-angle glaucoma. PMID:28499933
IGESS: a statistical approach to integrating individual-level genotype data and summary statistics in genome-wide association studies. PMID:28498950
Sharing of Genes and Pathways Across Complex Phenotypes: A Multilevel Genome-Wide Analysis. PMID:28495956
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. PMID:28490672
Prediction of gene expression with cis-SNPs using mixed models and regularization methods. PMID:28490319
Soft Sweeps Are the Dominant Mode of Adaptation in the Human Genome. PMID:28482049
TCF21 and the environmental sensor aryl-hydrocarbon receptor cooperate to activate a pro-inflammatory gene expression program in coronary artery smooth muscle cells. PMID:28481916
Detecting Gene-Gene Interactions Associated with Multiple Complex Traits with U-Statistics. PMID:28479869
Comparative transcriptomics in human and mouse. PMID:28479595
Widespread Allelic Heterogeneity in Complex Traits. PMID:28475861
Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation. PMID:28472463
Structural variants caused by Alu insertions are associated with risks for many human diseases. PMID:28465436
GSuite HyperBrowser: integrative analysis of dataset collections across the genome and epigenome. PMID:28459977
Identifying systematic heterogeneity patterns in genetic association meta-analysis studies. PMID:28459806
The Novel ASIC2 Locus is Associated with Severe Gingival Inflammation. PMID:28459102
Exploring a causal role of DNA methylation in the relationship between maternal vitamin B12 during pregnancy and child's IQ at age 8, cognitive performance and educational attainment: a two-step Mendelian randomization study. PMID:28453778
Insertion and deletion polymorphisms of the ancient AluS family in the human genome. PMID:28450901
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. PMID:28448500
Common variants in ZMIZ1 and near NGF confer risk for primary dysmenorrhoea. PMID:28447608
Mining Exosomal Genes for Pancreatic Cancer Targets. PMID:28446531
Revealing phenotype-associated functional differences by genome-wide scan of ancient haplotype blocks. PMID:28445522
Significant variation between SNP-based HLA imputations in diverse populations: the last mile is the hardest. PMID:28440342
Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. PMID:28430825
Network-assisted analysis of GWAS data identifies a functionally-relevant gene module for childhood-onset asthma. PMID:28428554
Are genetic polymorphisms in the renin-angiotensin-aldosterone system associated with essential hypertension? Evidence from genome-wide association studies. PMID:28425437
Short telomere length is associated with impaired cognitive performance in European ancestry cohorts. PMID:28418400
Use of Graph Database for the Integration of Heterogeneous Biological Data. PMID:28416946
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. PMID:28416818
Parkinson's disease-associated genetic variation is linked to quantitative expression of inflammatory genes. PMID:28407015
Predictive long-range allele-specific mapping of regulatory variants and target transcripts. PMID:28406955
DNA methylation landscape of ocular tissue relative to matched peripheral blood. PMID:28406180
Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study. PMID:28401901
Genetic Risk Score of Nine Type 2 Diabetes Risk Variants that Interact with Erythrocyte Phospholipid Alpha-Linolenic Acid for Type 2 Diabetes in Chinese Hans: A Case-Control Study. PMID:28398239
Local Ancestry and Clinical Cardiovascular Events Among African Americans From the Atherosclerosis Risk in Communities Study. PMID:28396569
Epigenome-wide Association of DNA Methylation in Whole Blood With Bone Mineral Density. PMID:28394087
Long noncoding RNA LINC00305 promotes inflammation by activating the AHRR-NF-κB pathway in human monocytes. PMID:28393844
Physical Confirmation and Comparative Genomics of the Rat Mammary carcinoma susceptibility 3 Quantitative Trait Locus. PMID:28391240
Exome Sequence Analysis of 14 Families With High Myopia. PMID:28384719
Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease. PMID:28369058
The impact of structural variation on human gene expression. PMID:28369037
NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. PMID:28360221
Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer. PMID:28359301
Enhancers and chromatin structures: regulatory hubs in gene expression and diseases. PMID:28351896
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. PMID:28346442
Predicting the impact of non-coding variants on DNA methylation. PMID:28334830
QRank: a novel quantile regression tool for eQTL discovery. PMID:28334222
A Review of Recent Advancement in Integrating Omics Data with Literature Mining towards Biomedical Discoveries. PMID:28331849
Secondary phenotype analysis in ascertained family designs: application to the Leiden longevity study. PMID:28303589
A Pilot Genome-Wide Association Study Identifies Potential Metabolic Pathways Involved in Tinnitus. PMID:28303087
Role of Structural Bioinformatics in Drug Discovery by Computational SNP Analysis: Analyzing Variation at the Protein Level. PMID:28302551
cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes. PMID:28302177
Epigenetic and genetic alterations and their influence on gene regulation in chronic lymphocytic leukemia. PMID:28302063
Genome-wide analysis identifies an african-specific variant in SEMA4D associated with body mass index. PMID:28296344
Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits. PMID:28285768
Shared regulatory sites are abundant in the human genome and shed light on genome evolution and disease pleiotropy. PMID:28282383
Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. PMID:28270201
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites. PMID:28263315
Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits. PMID:28257690
Diversity in non-repetitive human sequences not found in the reference genome. PMID:28250455
Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study. PMID:28250428
Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells. PMID:28248954
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. PMID:28241208
Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci. PMID:28240266
Variant Set Enrichment: an R package to identify disease-associated functional genomic regions. PMID:28239419
Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect? PMID:28239348
Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits. PMID:28238358
Impacts of Neanderthal-Introgressed Sequences on the Landscape of Human Gene Expression. PMID:28235201
Summing up the parts of the hypothalamus. PMID:28230849
Genomic variants at 20p11 associated with body fat mass in the European population. PMID:28224759
Genome-wide study of resistant hypertension identified from electronic health records. PMID:28222112
Predicting gene expression in massively parallel reporter assays: A comparative study. PMID:28220625
A functional SNP associated with atopic dermatitis controls cell type-specific methylation of the VSTM1 gene locus. PMID:28219444
High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine. PMID:28213901
graph-GPA: A graphical model for prioritizing GWAS results and investigating pleiotropic architecture. PMID:28212402
Big Data Analytics for Genomic Medicine. PMID:28212287
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease. PMID:28209224
FocusHeuristics - expression-data-driven network optimization and disease gene prediction. PMID:28205611
Systematic analyses of drugs and disease indications in RepurposeDB reveal pharmacological, biological and epidemiological factors influencing drug repositioning. PMID:28200013
GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. PMID:28199695
Confounding effects of microbiome on the susceptibility of TNFSF15 to Crohn's disease in the Ryukyu Islands. PMID:28197769
Recurrently deregulated lncRNAs in hepatocellular carcinoma. PMID:28194035
Genetic regulatory signatures underlying islet gene expression and type 2 diabetes. PMID:28193859
Overview of the BioBank Japan Project: Study design and profile. PMID:28189464
Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer. PMID:28188128
A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. PMID:28181694
Genetic Association and Risk Scores in a Chronic Obstructive Pulmonary Disease Meta-analysis of 16,707 Subjects. PMID:28170284
Hotspots of aberrant enhancer activity punctuate the colorectal cancer epigenome. PMID:28169291
No association between gluten sensitivity and amyotrophic lateral sclerosis. PMID:28168522
Integration of VDR genome wide binding and GWAS genetic variation data reveals co-occurrence of VDR and NF-κB binding that is linked to immune phenotypes. PMID:28166722
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. PMID:28166215
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. PMID:28166213
Outcome-wide Epidemiology. PMID:28166102
Polygenic Influence on Educational Attainment: New evidence from The National Longitudinal Study of Adolescent to Adult Health. PMID:28164148
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
Gene-Gene Interaction Analysis for the Accelerated Failure Time Model Using a Unified Model-Based Multifactor Dimensionality Reduction Method. PMID:28154507
Prediction of Quantitative Traits Using Common Genetic Variants: Application to Body Mass Index. PMID:28154505
Risk Prediction Using Genome-Wide Association Studies on Type 2 Diabetes. PMID:28154504
Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits. PMID:28151408
Using epigenomic data to inform genome-wide association studies of bone mineral density. PMID:28149849
Sequence and Phylogenetic Analysis of the Untranslated Promoter Regions for HLA Class I Genes. PMID:28148735
Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom. PMID:28145424
Propelling the paradigm shift from reductionism to systems nutrition. PMID:28138347
Simultaneous Modeling of Disease Status and Clinical Phenotypes To Increase Power in Genome-Wide Association Studies. PMID:28132020
The Genetic Architecture of Coronary Artery Disease: Current Knowledge and Future Opportunities. PMID:28130654
High-Throughput Characterization of Blood Serum Proteomics of IBD Patients with Respect to Aging and Genetic Factors. PMID:28129359
The genetic overlap between mood disorders and cardiometabolic diseases: a systematic review of genome wide and candidate gene studies. PMID:28117839
Fine mapping genetic associations between the HLA region and extremely high intelligence. PMID:28117369
Identification of a Putative Quantitative Trait Gene for Resistance to Obesity in Mice Using Transcriptome Analysis and Causal Inference Tests. PMID:28114323
The systematic analysis of coding and long non-coding RNAs in the sub-chronic and chronic stages of spinal cord injury. PMID:28106101
Nutritional Biomarkers, Gene-Diet Interaction, and Risk Factors for Type 2 Diabetes. PMID:28105443
A Model of Compound Heterozygous, Loss-of-Function Alleles Is Broadly Consistent with Observations from Complex-Disease GWAS Datasets. PMID:28103232
Genome-Wide Analysis in Brazilians Reveals Highly Differentiated Native American Genome Regions. PMID:28100790
iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. PMID:28100260
Concise Review: Induced Pluripotent Stem Cell Research in the Era of Precision Medicine. PMID:28100040
Common developmental genome deprogramming in schizophrenia - Role of Integrative Nuclear FGFR1 Signaling (INFS). PMID:28094170
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only. PMID:28087736
Common risk variants for colorectal cancer: an evaluation of associations with age at cancer onset. PMID:28084440
Bayesian genome- and epigenome-wide association studies with gene level dependence. PMID:28083869
Identifying Pleiotropic Genes in Genome-Wide Association Studies for Multivariate Phenotypes with Mixed Measurement Scales. PMID:28081206
SCOPA and META-SCOPA: software for the analysis and aggregation of genome-wide association studies of multiple correlated phenotypes. PMID:28077070
Sexual dimorphisms in genetic loci linked to body fat distribution. PMID:28073971
Evidence of epigenetic admixture in the Colombian population. PMID:28073928
Informatics and Data Analytics to Support Exposome-Based Discovery for Public Health. PMID:28068484
Genomic translational research: Paving the way to individualized cardiac functional analyses and personalized cardiology. PMID:28057368
Accurate Promoter and Enhancer Identification in 127 ENCODE and Roadmap Epigenomics Cell Types and Tissues by GenoSTAN. PMID:28056037
POSTAR: a platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins. PMID:28053162
Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. PMID:28053046
Genome-wide association scan of neuropathic pain symptoms post total joint replacement highlights a variant in the protein-kinase C gene. PMID:28051079
Neuroblastoma, a Paradigm for Big Data Science in Pediatric Oncology. PMID:28035989
geneAttribution: trait agnostic identification of candidate genes associated with noncoding variation. PMID:28035029
Serum calcium and risk of migraine: a Mendelian randomization study. PMID:28025330
The Decay of Disease Association with Declining Linkage Disequilibrium: A Fine Mapping Theorem. PMID:28018425
Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity. PMID:28017796
Weighted Protein Interaction Network Analysis of Frontotemporal Dementia. PMID:28004582
A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits. PMID:28000695
Complex systems analysis of bladder cancer susceptibility reveals a role for decarboxylase activity in two genome-wide association studies. PMID:27999618
Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma. PMID:27993549
A gene network regulated by the transcription factor VGLL3 as a promoter of sex-biased autoimmune diseases. PMID:27992404
Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. PMID:27989323
A Data Fusion Approach to Enhance Association Study in Epilepsy. PMID:27984588
Comparison of multiple single-nucleotide variant association tests in a meta-analysis of Genetic Analysis Workshop 19 family and unrelated data. PMID:27980634
Comparison of parametric and machine methods for variable selection in simulated Genetic Analysis Workshop 19 data. PMID:27980627
Quantifying deleterious effects of regulatory variants. PMID:27980060
Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array. PMID:27973554
XGR software for enhanced interpretation of genomic summary data, illustrated by application to immunological traits. PMID:27964755
Alternate-locus aware variant calling in whole genome sequencing. PMID:27964746
Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group. PMID:27958378
DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases. PMID:27955697
Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms. PMID:27939749
High-throughput allele-specific expression across 250 environmental conditions. PMID:27934696
FARNA: knowledgebase of inferred functions of non-coding RNA transcripts. PMID:27924038
LincSNP 2.0: an updated database for linking disease-associated SNPs to human long non-coding RNAs and their TFBSs. PMID:27924020
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. PMID:27924018
Applications and Limitations of Mouse Models for Understanding Human Atherosclerosis. PMID:27916529
Predicting the recurrence of noncoding regulatory mutations in cancer. PMID:27912731
Brain transcriptome atlases: a computational perspective. PMID:27909802
Exploration of a Polygenic Risk Score for Alcohol Consumption: A Longitudinal Analysis from the ALSPAC Cohort. PMID:27902751
Genome sequencing in a case of Niemann-Pick type C. PMID:27900365
BNC2 is a putative tumor suppressor gene in high-grade serous ovarian carcinoma and impacts cell survival after oxidative stress. PMID:27899818
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). PMID:27899670
Open Targets: a platform for therapeutic target identification and validation. PMID:27899665
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:27899636
Ensembl 2017. PMID:27899575
Combining Multiple Hypothesis Testing with Machine Learning Increases the Statistical Power of Genome-wide Association Studies. PMID:27892471
ToxReporter: viewing the genome through the eyes of a toxicologist. PMID:27888230
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. PMID:27876822
Extensive Association of Common Disease Variants with Regulatory Sequence. PMID:27875544
Comment: Addressing the Need for Portability in Big Data Model Building and Calibration. PMID:27867238
Colocalization of GWAS and eQTL Signals Detects Target Genes. PMID:27866706
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. PMID:27863252
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. PMID:27863251
PreCimp: Pre-collapsing imputation approach increases imputation accuracy of rare variants in terms of collapsed variables. PMID:27859580
AnnoLnc: a web server for systematically annotating novel human lncRNAs. PMID:27852242
eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data. PMID:27851974
Systematic Analysis of Cell-to-Cell Expression Variation of T Lymphocytes in a Human Cohort Identifies Aging and Genetic Associations. PMID:27851916
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. PMID:27841877
Using GWAS to identify novel therapeutic targets for osteoporosis. PMID:27837649
Whole genome sequence analysis of the TALLYHO/Jng mouse. PMID:27835940
A multi-marker association method for genome-wide association studies without the need for population structure correction. PMID:27830750
Regulation of disease-associated gene expression in the 3D genome. PMID:27826147
Neurogenomics and the role of a large mutational target on rapid behavioral change. PMID:27825385
Trans-ethnic follow-up of breast cancer GWAS hits using the preferential linkage disequilibrium approach. PMID:27825120
A Comprehensive Characterization of the Function of LincRNAs in Transcriptional Regulation Through Long-Range Chromatin Interactions. PMID:27824113
HLA-C Level Is Regulated by a Polymorphic Oct1 Binding Site in the HLA-C Promoter Region. PMID:27817866
Copy number variation analysis reveals additional variants contributing to endometriosis development. PMID:27817035
Post-GWAS Prioritization Through Data Integration Provides Novel Insights on Chronic Obstructive Pulmonary Disease. PMID:27812370
Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records. PMID:27812365
A high-throughput functional genomics workflow based on CRISPR/Cas9-mediated targeted mutagenesis in zebrafish. PMID:27809318
CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling. PMID:27807677
snpGeneSets: An R Package for Genome-Wide Study Annotation. PMID:27807048
Transcriptional Dynamics During Human Adipogenesis and Its Link to Adipose Morphology and Distribution. PMID:27803022
Capture Hi-C identifies a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23. PMID:27799070
Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project. PMID:27798100
Population Stratification and Underrepresentation of Indian Subcontinent Genetic Diversity in the 1000 Genomes Project Dataset. PMID:27797945
Controlling the Rate of GWAS False Discoveries. PMID:27784720
Epigenome-wide association study of triglyceride postprandial responses to a high-fat dietary challenge. PMID:27777315
Strain survey and genetic analysis of vasoreactivity in mouse aorta. PMID:27764765
The antihypertensive MTHFR gene polymorphism rs17367504-G is a possible novel protective locus for preeclampsia. PMID:27755385
Molecular classification of Crohn's disease reveals two clinically relevant subtypes. PMID:27742763
Explicating heterogeneity of complex traits has strong potential for improving GWAS efficiency. PMID:27739495
Detection of human adaptation during the past 2000 years. PMID:27738015
SZGR 2.0: a one-stop shop of schizophrenia candidate genes. PMID:27733502
No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis. PMID:27731410
Analysis of Heritability Using Genome-Wide Data. PMID:27727439
Genetic Research and Women's Heart Disease: a Primer. PMID:27726072
Genetic dissection of host immune response in pneumonia development and progression. PMID:27725770
The Role of Genes, Stress, and Dopamine in the Development of Schizophrenia. PMID:27720198
A Novel Genetic Variant in Long Non-coding RNA Gene NEXN-AS1 is Associated with Risk of Lung Cancer. PMID:27713484
Environmental control of autoimmune inflammation in the central nervous system. PMID:27710839
Genetic and transcriptional analysis of human host response to healthy gut microbiota. PMID:27709125
Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology. PMID:27708560
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. PMID:27708267
Network analysis of mitonuclear GWAS reveals functional networks and tissue expression profiles of disease-associated genes. PMID:27704213
Genome-wide compendium and functional assessment of in vivo heart enhancers. PMID:27703156
Multivariate Analysis of Anthropometric Traits Using Summary Statistics of Genome-Wide Association Studies from GIANT Consortium. PMID:27701450
Atlas of human diseases influenced by genetic variants with extreme allele frequency differences. PMID:27699474
Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. PMID:27693352
Genome-Wide Association Studies in Obstructive Sleep Apnea. Will We Catch a Black Cat in a Dark Room? PMID:27689706
Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control study. PMID:27682602
Characterization of candidate genes in inflammatory bowel disease-associated risk loci. PMID:27668286
Novel regional age-associated DNA methylation changes within human common disease-associated loci. PMID:27663977
LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. PMID:27663502
Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels. PMID:27656708
Genetic Factors of the Disease Course after Sepsis: A Genome-Wide Study for 28Day Mortality. PMID:27639821
Complex Patterns of Association between Pleiotropy and Transcription Factor Evolution. PMID:27635052
Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples. PMID:27633116
An overview of human genetic privacy. PMID:27626905
High-throughput discovery of novel developmental phenotypes. PMID:27626380
Bidirectional Expression of Metabolic, Structural, and Immune Pathways in Early Myopia and Hyperopia. PMID:27625591
Maps of context-dependent putative regulatory regions and genomic signal interactions. PMID:27625394
Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. PMID:27623284
Pathway Analysis Incorporating Protein-Protein Interaction Networks Identified Candidate Pathways for the Seven Common Diseases. PMID:27622767
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. PMID:27618452
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. PMID:27618448
Comparative analysis of housekeeping and tissue-specific driver nodes in human protein interaction networks. PMID:27612563
GenToS: Use of Orthologous Gene Information to Prioritize Signals from Human GWAS. PMID:27612175
Validating the pharmacogenomics of chemotherapy-induced cardiotoxicity: What is missing? PMID:27609196
Rapporteur summaries of plenary, symposia, and oral sessions from the XXIIIrd World Congress of Psychiatric Genetics Meeting in Toronto, Canada, 16-20 October 2015. PMID:27606929
Exploration and detection of potential regulatory variants in refractive error GWAS. PMID:27604318
Data sources for in vivo molecular profiling of human phenotypes. PMID:27599755
Tissue-specific Co-expression of Long Non-coding and Coding RNAs Associated with Breast Cancer. PMID:27597120
Discrepancies between human DNA, mRNA and protein reference sequences and their relation to single nucleotide variants in the human population. PMID:27589963
Towards understanding brain-gut-microbiome connections in Alzheimer's disease. PMID:27585440
The power of multiplexed functional analysis of genetic variants. PMID:27583640
Identifying significant gene-environment interactions using a combination of screening testing and hierarchical false discovery rate control. PMID:27578615
Role of pharmacogenetics in public health and clinical health care: a SWOT analysis. PMID:27577547
Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism. PMID:27576376
Multi-variant study of obesity risk genes in African Americans: The Jackson Heart Study. PMID:27575456
A genomics-based systems approach towards drug repositioning for rheumatoid arthritis. PMID:27557330
Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer. PMID:27550749
Comparing Analytic Methods for Longitudinal GWAS and a Case-Study Evaluating Chemotherapy Course Length in Pediatric AML. A Report from the Children's Oncology Group. PMID:27547214
Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases. PMID:27540175
Nationwide Genomic Study in Denmark Reveals Remarkable Population Homogeneity. PMID:27535931
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. PMID:27535653
Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD. PMID:27532455
Leveraging electronic health records to study pleiotropic effects on bipolar disorder and medical comorbidities. PMID:27529678
Challenges in Translating GWAS Results to Clinical Care. PMID:27527156
Modulation of long noncoding RNAs by risk SNPs underlying genetic predispositions to prostate cancer. PMID:27526323
Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient. PMID:27513026
Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases. PMID:27508393
Data and programs in support of network analysis of genes and their association with diseases. PMID:27508260
Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat. PMID:27506932
Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits. PMID:27506385
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2. PMID:27490946
Estimating Marginal Healthcare Costs Using Genetic Variants as Instrumental Variables: Mendelian Randomization in Economic Evaluation. PMID:27484822
A gene browser of colorectal cancer with literature evidence and pre-computed regulatory information to identify key tumor suppressors and oncogenes. PMID:27477450
A GWA study reveals genetic loci for body conformation traits in Chinese Laiwu pigs and its implications for human BMI. PMID:27473603
Evidence for sex-specific genetic architectures across a spectrum of human complex traits. PMID:27473438
eSNPO: An eQTL-based SNP Ontology and SNP functional enrichment analysis platform. PMID:27470167
Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study. PMID:27470079
Imputation of DNA Methylation Levels in the Brain Implicates a Risk Factor for Parkinson's Disease. PMID:27466229
Integrating Epigenomic Elements and GWASs Identifies BDNF Gene Affecting Bone Mineral Density and Osteoporotic Fracture Risk. PMID:27465306
Systematic identification of protein combinations mediating chromatin looping. PMID:27461729
Mapping Variation in Cellular and Transcriptional Response to 1,25-Dihydroxyvitamin D3 in Peripheral Blood Mononuclear Cells. PMID:27454520
A novel approach for multi-SNP GWAS and its application in Alzheimer's disease. PMID:27453991
Plethysmography Phenotype QTL in Mice Before and After Allergen Sensitization and Challenge. PMID:27449512
The Legacy of Past Pandemics: Common Human Mutations That Protect against Infectious Disease. PMID:27442518
Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences. PMID:27437086
Excess of Deleterious Mutations around HLA Genes Reveals Evolutionary Cost of Balancing Selection. PMID:27436009
Applications of the 1000 Genomes Project resources. PMID:27436001
A Longitudinal HbA1c Model Elucidates Genes Linked to Disease Progression on Metformin. PMID:27415606
LAMPLINK: detection of statistically significant SNP combinations from GWAS data. PMID:27412093
Genetics and immunity in the era of single-cell genomics. PMID:27412011
Joint Bayesian inference of risk variants and tissue-specific epigenomic enrichments across multiple complex human diseases. PMID:27407109
Type 2 diabetes: genetic data sharing to advance complex disease research. PMID:27402621
Gene-specific patterns of expression variation across organs and species. PMID:27391956
A global test for gene-gene interactions based on random matrix theory. PMID:27386793
Functional characterization of the 12p12.1 renal cancer-susceptibility locus implicates BHLHE41. PMID:27384883
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes. PMID:27377421
Whole-genome sequencing in French Canadians from Quebec. PMID:27376640
Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi. PMID:27376574
Rapid genotype imputation from sequence without reference panels. PMID:27376236
The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins. PMID:27374120
The role of enhancers in cancer. PMID:27364481
A Powerful Procedure for Pathway-Based Meta-analysis Using Summary Statistics Identifies 43 Pathways Associated with Type II Diabetes in European Populations. PMID:27362418
Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance. PMID:27359253
Variants in CCL16 are associated with blood plasma and cerebrospinal fluid CCL16 protein levels. PMID:27357396
Variants in ACPP are associated with cerebrospinal fluid Prostatic Acid Phosphatase levels. PMID:27357282
Genome-wide association study of prolactin levels in blood plasma and cerebrospinal fluid. PMID:27357110
Genetic variants determining survival and fertility in an adverse African environment: a population-based large-scale candidate gene association study. PMID:27356285
The genetic regulatory signature of type 2 diabetes in human skeletal muscle. PMID:27353450
Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data. PMID:27346688
Pathway and network-based strategies to translate genetic discoveries into effective therapies. PMID:27340225
Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci. PMID:27336838
QuIN: A Web Server for Querying and Visualizing Chromatin Interaction Networks. PMID:27336171
Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study. PMID:27329291
Complex Selection on Human Polyadenylation Signals Revealed by Polymorphism and Divergence Data. PMID:27324920
Admixture into and within sub-Saharan Africa. PMID:27324836
PhenoScanner: a database of human genotype-phenotype associations. PMID:27318201
Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort. PMID:27312598
Approaches to uncovering cancer diagnostic and prognostic molecular signatures. PMID:27308330
Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set. PMID:27305981
The importance of detailed epigenomic profiling of different cell types within organs. PMID:27305639
Molecular and genetic inflammation networks in major human diseases. PMID:27303926
Genetics of the acute coronary syndrome. PMID:27294088
Boosting the Power of the Sequence Kernel Association Test by Properly Estimating Its Null Distribution. PMID:27292111
Construction of an integrative regulatory element and variation map of the murine Tst locus. PMID:27287690
Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. PMID:27287230
Explaining the disease phenotype of intergenic SNP through predicted long range regulation. PMID:27280978
How far from the SNP may the causative genes be? PMID:27269582
The Ensembl Variant Effect Predictor. PMID:27268795
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians. PMID:27260402
Principles of microRNA Regulation Revealed Through Modeling microRNA Expression Quantitative Trait Loci. PMID:27260304
Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. PMID:27259154
Fast and Accurate Construction of Confidence Intervals for Heritability. PMID:27259052
Evidence for extensive pleiotropy among pharmacogenes. PMID:27249515
Hyperlipidemia-associated gene variations and expression patterns revealed by whole-genome and transcriptome sequencing of rabbit models. PMID:27245873
Long noncoding RNAs in cancer: mechanisms of action and technological advancements. PMID:27233618
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions. PMID:27224906
Discovery of rare variants for complex phenotypes. PMID:27221085
Fishing for Function in the Human Gene Pool. PMID:27220646
Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease. PMID:27213287
Population Stratification in the Context of Diverse Epidemiologic Surveys Sans Genome-Wide Data. PMID:27200085
Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks. PMID:27197224
Impact of the X Chromosome and sex on regulatory variation. PMID:27197214
An Integrated Data Driven Approach to Drug Repositioning Using Gene-Disease Associations. PMID:27196054
Challenges in Rare Variant Association Studies for Complex Kidney Traits: CFHR5 and IgA Nephropathy. PMID:27188840
Coming of age: ten years of next-generation sequencing technologies. PMID:27184599
A method to decipher pleiotropy by detecting underlying heterogeneity driven by hidden subgroups applied to autoimmune and neuropsychiatric diseases. PMID:27182969
Local Joint Testing Improves Power and Identifies Hidden Heritability in Association Studies. PMID:27182951
Chronic expression of interferon-gamma leads to murine autoimmune cholangitis with a female predominance. PMID:27178326
Identification of a functional variant for colorectal cancer risk mapping to chromosome 5q31.1. PMID:27177089
Functional genomics in osteoarthritis: Past, present, and future. PMID:27176659
Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours. PMID:27158822
Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits. PMID:27155841
High-performance web services for querying gene and variant annotation. PMID:27154141
Assessing statistical significance in multivariable genome wide association analysis. PMID:27153677
A Polymorphic Antioxidant Response Element Links NRF2/sMAF Binding to Enhanced MAPT Expression and Reduced Risk of Parkinsonian Disorders. PMID:27149848
Compare and Contrast Meta Analysis (CCMA): A Method for Identification of Pleiotropic Loci in Genome-Wide Association Studies. PMID:27149374
Colorectal cancer risk genes are functionally enriched in regulatory pathways. PMID:27146020
Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study. PMID:27142222
Integrative genomic deconvolution of rheumatoid arthritis GWAS loci into gene and cell type associations. PMID:27140173
Cross-Tissue Regulatory Gene Networks in Coronary Artery Disease. PMID:27135365
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. PMID:27132595
GCGene: a gene resource for gastric cancer with literature evidence. PMID:27127885
Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids). PMID:27126235
Metabolomics in epidemiology: from metabolite concentrations to integrative reaction networks. PMID:27118561
Epigenomic elements analyses for promoters identify ESRRG as a new susceptibility gene for obesity-related traits. PMID:27113491
Genetic Factors Are Not the Major Causes of Chronic Diseases. PMID:27105432
Jointly characterizing epigenetic dynamics across multiple human cell types. PMID:27095202
Candidate SNP Markers of Gender-Biased Autoimmune Complications of Monogenic Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters. PMID:27092142
Prioritizing functional phosphorylation sites based on multiple feature integration. PMID:27090940
Gene signature-based mapping of immunological systems and diseases. PMID:27089880
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. PMID:27089181
Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer. PMID:27087578
DanQ: a hybrid convolutional and recurrent deep neural network for quantifying the function of DNA sequences. PMID:27084946
Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation. PMID:27081498
Review of the Gene-Environment Interaction Literature in Cancer: What Do We Know? PMID:27061572
Evaluation of a Two-Stage Approach in Trans-Ethnic Meta-Analysis in Genome-Wide Association Studies. PMID:27061095
Multiple sclerosis: genetics, biomarkers, treatments. PMID:27058221
Polymorphism of rs3737597 in DISC1 Gene on Chromosome 1q42.2 in sALS Patients: a Chinese Han Population Case-Control Study. PMID:27052956
Genome-Wide Estimates of Heritability for Social Demographic Outcomes. PMID:27050030
Long non-coding RNA Databases in Cardiovascular Research. PMID:27049585
Epistasis Test in Meta-Analysis: A Multi-Parameter Markov Chain Monte Carlo Model for Consistency of Evidence. PMID:27045371
Webulous and the Webulous Google Add-On--a web service and application for ontology building from templates. PMID:27042287
DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis. PMID:27040690
Isolation of a Genomic Region Affecting Most Components of Metabolic Syndrome in a Chromosome-16 Congenic Rat Model. PMID:27031336
Asthma Genetics in the Post-GWAS Era. PMID:27027959
A network-based drug repositioning infrastructure for precision cancer medicine through targeting significantly mutated genes in the human cancer genomes. PMID:27026610
Utilizing yeast chemogenomic profiles for the prediction of pharmacogenomic associations in humans. PMID:27025271
Thinking differently about lupus. PMID:27023642
Pathways to smoking behaviours: biological insights from the Tobacco and Genetics Consortium meta-analysis. PMID:27021816
Integrative network modeling approaches to personalized cancer medicine. PMID:27019658
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. PMID:27019110
Identification of Non-HLA Genes Associated with Celiac Disease and Country-Specific Differences in a Large, International Pediatric Cohort. PMID:27015091
Survey of variation in human transcription factors reveals prevalent DNA binding changes. PMID:27013732
GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. PMID:27008869
Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. PMID:27005778
PSCA rs2294008 polymorphism contributes to the decreased risk for cervical cancer in a Chinese population. PMID:27001215
Chromatin interactions and candidate genes at ten prostate cancer risk loci. PMID:26979803
An extended set of yeast-based functional assays accurately identifies human disease mutations. PMID:26975778
The genetics of drug efficacy: opportunities and challenges. PMID:26972588
Meta-analysis of genome-wide association studies reveals genetic overlap between Hodgkin lymphoma and multiple sclerosis. PMID:26971321
miRNA regulation of LDL-cholesterol metabolism. PMID:26968099
DenguePredict: An Integrated Drug Repositioning Approach towards Drug Discovery for Dengue. PMID:26958268
Leveraging gene-environment interactions and endotypes for asthma gene discovery. PMID:26947980
Understanding inherited genetic risk of adult glioma - a review. PMID:26941959
GWASeq: targeted re-sequencing follow up to GWAS. PMID:26940994
Computational Characterization of Osteoporosis Associated SNPs and Genes Identified by Genome-Wide Association Studies. PMID:26930606
Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine. PMID:26927186
Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases. PMID:26915271
Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density. PMID:26911590
Genetics of Common Endocrine Disease: The Present and the Future. PMID:26908105
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility. PMID:26901136
Refined mapping of autoimmune disease associated genetic variants with gene expression suggests an important role for non-coding RNAs. PMID:26898941
Early developmental gene enhancers affect subcortical volumes in the adult human brain. PMID:26890892
Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins. PMID:26888265
Unravelling the human genome-phenome relationship using phenome-wide association studies. PMID:26875678
Genetics of irritable bowel syndrome. PMID:26873717
Introns: The Functional Benefits of Introns in Genomes. PMID:26865841
Efficient Software for Multi-marker, Region-Based Analysis of GWAS Data. PMID:26865700
ePIANNO: ePIgenomics ANNOtation tool. PMID:26859295
Weighting sequence variants based on their annotation increases power of whole-genome association studies. PMID:26854916
Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening. PMID:26846999
Trans-ethnic study design approaches for fine-mapping. PMID:26839038
Recent Selection Changes in Human Genes under Long-Term Balancing Selection. PMID:26831942
On Sample Size and Power Calculation for Variant Set-Based Association Tests. PMID:26831402
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. PMID:26831199
Iterative Usage of Fixed and Random Effect Models for Powerful and Efficient Genome-Wide Association Studies. PMID:26828793
Practical Calling Approach for Exome Array-Based Genome-Wide Association Studies in Korean Population. PMID:26819946
Inference of domain-disease associations from domain-protein, protein-disease and disease-disease relationships. PMID:26818594
Weakly supervised learning of biomedical information extraction from curated data. PMID:26817711
Analytical Complexity in Detection of Gene Variant-by-Environment Exposure Interactions in High-Throughput Genomic and Exposomic Research. PMID:26809563
Genome-wide DNA methylation profiling in the superior temporal gyrus reveals epigenetic signatures associated with Alzheimer's disease. PMID:26803900
SEPARATING THE CAUSES AND CONSEQUENCES IN DISEASE TRANSCRIPTOME. PMID:26776202
TESTING POPULATION-SPECIFIC QUANTITATIVE TRAIT ASSOCIATIONS FOR CLINICAL OUTCOME RELEVANCE IN A BIOREPOSITORY LINKED TO ELECTRONIC HEALTH RECORDS: LPA AND MYOCARDIAL INFARCTION IN AFRICAN AMERICANS. PMID:26776177
PHENOME-WIDE INTERACTION STUDY (PheWIS) IN AIDS CLINICAL TRIALS GROUP DATA (ACTG). PMID:26776173
Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment. PMID:26773863
A trans-acting Variant within the Transcription Factor RIM101 Interacts with Genetic Background to Determine its Regulatory Capacity. PMID:26751950
The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants. PMID:26733288
Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians. PMID:26719974
Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome. PMID:26719772
Progress and promise in understanding the genetic basis of common diseases. PMID:26702037
ECGene: A Literature-Based Knowledgebase of Endometrial Cancer Genes. PMID:26699919
Forward Individualized Medicine from Personal Genomes to Interactomes. PMID:26696898
Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters. PMID:26694100
Ensembl 2016. PMID:26687719
traseR: an R package for performing trait-associated SNP enrichment analysis in genomic intervals. PMID:26685307
LENS: web-based lens for enrichment and network studies of human proteins. PMID:26680011
Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity. PMID:26677855
Genome-Wide Association Studies and Liver Disease. PMID:26676811
A novel long non-coding RNA in the rheumatoid arthritis risk locus TRAF1-C5 influences C5 mRNA levels. PMID:26673966
ChromContact: A web tool for analyzing spatial contact of chromosomes from Hi-C data. PMID:26666652
A new method for estimating effect size distribution and heritability from genome-wide association summary results. PMID:26661625
HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. PMID:26657631
Fine-mapping cellular QTLs with RASQUAL and ATAC-seq. PMID:26656845
Advances in the Pharmacogenomics of Adverse Drug Reactions. PMID:26650062
RNA-binding proteins, neural development and the addictions. PMID:26643147
Abundant contribution of short tandem repeats to gene expression variation in humans. PMID:26642241
Systems Genetic Validation of the SNP-Metabolite Association in Rice Via Metabolite-Pathway-Based Phenome-Wide Association Scans. PMID:26640468
Meta-Analysis of Rare Variant Association Tests in Multiethnic Populations. PMID:26639010
RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins. PMID:26635394
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. PMID:26635082
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. PMID:26631737
Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. PMID:26626624
MicroRNA-650 in a copy number-variable region regulates the production of interleukin 6 in human osteosarcoma cells. PMID:26622897
Mapping DNA methylation across development, genotype and schizophrenia in the human frontal cortex. PMID:26619358
GWASdb v2: an update database for human genetic variants identified by genome-wide association studies. PMID:26615194
Extensive Admixture and Selective Pressure Across the Sahel Belt. PMID:26614524
PExFInS: An Integrative Post-GWAS Explorer for Functional Indels and SNPs. PMID:26612672
Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set. PMID:26611117
Testing for Ancient Selection Using Cross-population Allele Frequency Differentiation. PMID:26596347
The UCSC Genome Browser database: 2016 update. PMID:26590259
LocusExplorer: a user-friendly tool for integrated visualization of human genetic association data and biological annotations. PMID:26589274
NONCODE 2016: an informative and valuable data source of long non-coding RNAs. PMID:26586799
In the loop: promoter-enhancer interactions and bioinformatics. PMID:26586731
Discover hidden splicing variations by mapping personal transcriptomes to personal genomes. PMID:26578562
Shared Genetic Signals of Hypoxia Adaptation in Drosophila and in High-Altitude Human Populations. PMID:26576852
Proper Use of Allele-Specific Expression Improves Statistical Power for cis-eQTL Mapping with RNA-Seq Data. PMID:26568645
Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry. PMID:26566401
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. PMID:26561523
Uncovering drug-responsive regulatory elements. PMID:26555224
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. PMID:26553438
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
Characterization of the biological processes shaping the genetic structure of the Italian population. PMID:26553317
What Cure Models Can Teach us About Genome-Wide Survival Analysis. PMID:26552795
Identification of genetic factors that modify motor performance and body weight using Collaborative Cross mice. PMID:26548763
iWAS--A novel approach to analyzing Next Generation Sequence data for immunology. PMID:26547365
Crowdsourced direct-to-consumer genomic analysis of a family quartet. PMID:26547235
Meta-analysis identifies seven susceptibility loci involved in the atopic march. PMID:26542096
Comparative Genome of GK and Wistar Rats Reveals Genetic Basis of Type 2 Diabetes. PMID:26529237
MouseNet v2: a database of gene networks for studying the laboratory mouse and eight other model vertebrates. PMID:26527726
How to Use SNP_TATA_Comparator to Find a Significant Change in Gene Expression Caused by the Regulatory SNP of This Gene's Promoter via a Change in Affinity of the TATA-Binding Protein for This Promoter. PMID:26516624
Multiple SNP Set Analysis for Genome-Wide Association Studies Through Bayesian Latent Variable Selection. PMID:26515609
Genetic and epigenetic variation in the lineage specification of regulatory T cells. PMID:26510014
Genome-wide association study identifies African-ancestry specific variants for metabolic syndrome. PMID:26507551
rVarBase: an updated database for regulatory features of human variants. PMID:26503253
Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment. PMID:26494363
The transcriptional landscape of age in human peripheral blood. PMID:26490707
MtiBase: a database for decoding microRNA target sites located within CDS and 5'UTR regions from CLIP-Seq and expression profile datasets. PMID:26490638
The German AugUR study: study protocol of a prospective study to investigate chronic diseases in the elderly. PMID:26489512
Real-Time Assessment of Wellness and Disease in Daily Life. PMID:26487991
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis. PMID:26484159
Mapping asthma-associated variants in admixed populations. PMID:26483834
Genetic and socioeconomic study of mate choice in Latinos reveals novel assortment patterns. PMID:26483472
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. PMID:26482879
Psychiatric genetics in China: achievements and challenges. PMID:26481319
Genes associated with RSV lower respiratory tract infection and asthma: the application of genetic epidemiological methods to understand causality. PMID:26478738
Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases. PMID:26477495
Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. PMID:26472073
RMBase: a resource for decoding the landscape of RNA modifications from high-throughput sequencing data. PMID:26464443
Systems biology approaches to adverse drug effects: the example of cardio-oncology. PMID:26462128
Strategies for Imputing and Analyzing Rare Variants in Association Studies. PMID:26450338
Detecting association of rare and common variants by adaptive combination of P-values. PMID:26440553
Genomic approaches for understanding the genetics of complex disease. PMID:26430153
Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. PMID:26423053
Tissue-Specific Enrichment of Lymphoma Risk Loci in Regulatory Elements. PMID:26422229
Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium. PMID:26420894
The digital revolution in phenotyping. PMID:26420780
A novel locus of resistance to severe malaria in a region of ancient balancing selection. PMID:26416757
An Efficient Stepwise Statistical Test to Identify Multiple Linked Human Genetic Variants Associated with Specific Phenotypic Traits. PMID:26406920
Single-Base Pair Genome Editing in Human Cells by Using Site-Specific Endonucleases. PMID:26404258
Integrative pathway genomics of lung function and airflow obstruction. PMID:26395457
Genetics of allergy and allergic sensitization: common variants, rare mutations. PMID:26386198
The senescent methylome and its relationship with cancer, ageing and germline genetic variation in humans. PMID:26381124
Limited evidence that cancer susceptibility regions are preferential targets for somatic mutation. PMID:26374197
CPAG: software for leveraging pleiotropy in GWAS to reveal similarity between human traits links plasma fatty acids and intestinal inflammation. PMID:26374098
Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. PMID:26369774
The UK10K project identifies rare variants in health and disease. PMID:26367797
Interactive Big Data Resource to Elucidate Human Immune Pathways and Diseases. PMID:26362267
Pathway-based analysis for genome-wide association study data of bipolar disorder provides new insights for genetic study. PMID:26361787
Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. PMID:26352407
Comparative Analyses of QTLs Influencing Obesity and Metabolic Phenotypes in Pigs and Humans. PMID:26348622
A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. PMID:26343387
The Genetic Architecture of Hearing Impairment in Mice: Evidence for Frequency-Specific Genetic Determinants. PMID:26342000
Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations. PMID:26335686
Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index. PMID:26323059
Cohort profile: LifeLines DEEP, a prospective, general population cohort study in the northern Netherlands: study design and baseline characteristics. PMID:26319774
Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease Heterogeneity. PMID:26305227
Predicting effects of noncoding variants with deep learning-based sequence model. PMID:26301843
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. PMID:26301688
Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. PMID:26288249
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans. PMID:26287746
Gene scanning and heart attack risk. PMID:26277204
Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency. PMID:26273595
Predicting chromatin organization using histone marks. PMID:26272203
Drosophila Shep and C. elegans SUP-26 are RNA-binding proteins that play diverse roles in nervous system development. PMID:26271810
Translational genomics for plant breeding with the genome sequence explosion. PMID:26269219
XWAS: A Software Toolset for Genetic Data Analysis and Association Studies of the X Chromosome. PMID:26268243
Functional genomics indicate that schizophrenia may be an adult vascular-ischemic disorder. PMID:26261884
Genome-wide analysis of the genetic regulation of gene expression in human neutrophils. PMID:26259071
Dissecting the genetic determinants of hemostasis and thrombosis. PMID:26248003
The role of visualization and 3-D printing in biological data mining. PMID:26246856
A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. PMID:26237429
Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma. PMID:26237198
A guide on gene prioritization in studies of psychiatric disorders. PMID:26230968
BMD Loci Contribute to Ethnic and Developmental Differences in Skeletal Fragility across Populations: Assessment of Evolutionary Selection Pressures. PMID:26226985
Cohort Effects in the Genetic Influence on Smoking. PMID:26223473
Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits. PMID:26201699
Contemporary Considerations for Constructing a Genetic Risk Score: An Empirical Approach. PMID:26198599
Ancestry, admixture and fitness in Colombian genomes. PMID:26197429
Probing the epigenome. PMID:26196765
Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies. PMID:26189819
Utilizing population variation, vaccination, and systems biology to study human immunology. PMID:26187853
Implications of pleiotropy: challenges and opportunities for mining Big Data in biomedicine. PMID:26175753
Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC). PMID:26162070
Heterogeneous Network Edge Prediction: A Data Integration Approach to Prioritize Disease-Associated Genes. PMID:26158728
Genomic modulators of gene expression in human neutrophils. PMID:26151758
Pharmacogenomic variants have larger effect sizes than genetic variants associated with other dichotomous complex traits. PMID:26149738
The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data. PMID:26147798
Clinical and Genetic Factors Associated with Cutaneous Squamous Cell Carcinoma in Kidney and Heart Transplant Recipients. PMID:26146661
Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci. PMID:26140449
LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants. PMID:26139635
The support of human genetic evidence for approved drug indications. PMID:26121088
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. PMID:26119816
Cumulative effects of common genetic variants on risk of sudden cardiac death. PMID:26114160
Functional annotation of HOT regions in the human genome: implications for human disease and cancer. PMID:26113264
The European Genome-phenome Archive of human data consented for biomedical research. PMID:26111507
Disease-associated variants in different categories of disease located in distinct regulatory elements. PMID:26110593
Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals. PMID:26108142
A genome-wide systems analysis reveals strong link between colorectal cancer and trimethylamine N-oxide (TMAO), a gut microbial metabolite of dietary meat and fat. PMID:26100814
Genetic evidence for common pathways in human age-related diseases. PMID:26077337
PAGER: constructing PAGs and new PAG-PAG relationships for network biology. PMID:26072489
Decoding enhancers using massively parallel reporter assays. PMID:26072433
Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach. PMID:26064965
The role of individual inheritance in tumor progression and metastasis. PMID:26054921
High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. PMID:26048245
The differential view of genotype-phenotype relationships. PMID:26042146
A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius. PMID:26041818
Epigenome-wide association of liver methylation patterns and complex metabolic traits in mice. PMID:26039453
Developments in our understanding of the genetic basis of birth defects. PMID:26033863
Genetics of systemic sclerosis. PMID:26032405
Genetic basis of autoimmunity. PMID:26030227
Identification of new susceptibility loci for IgA nephropathy in Han Chinese. PMID:26028593
Characterization of TCF21 Downstream Target Regions Identifies a Transcriptional Network Linking Multiple Independent Coronary Artery Disease Loci. PMID:26020271
A statistical framework to predict functional non-coding regions in the human genome through integrated analysis of annotation data. PMID:26015273
Telomere maintenance and the etiology of adult glioma. PMID:26014050
Translational regulation shapes the molecular landscape of complex disease phenotypes. PMID:26007203
It's more than stamp collecting: how genome sequencing can unify biological research. PMID:26003218
The cancer cell map initiative: defining the hallmark networks of cancer. PMID:26000852
Prioritization of cancer-related genomic variants by SNP association network. PMID:25995611
Significant expansion of the REST/NRSF cistrome in human versus mouse embryonic stem cells: potential implications for neural development. PMID:25990720
Investigation of susceptibility genes triggering lachrymal/salivary gland lesion complications in Japanese patients with type 1 autoimmune pancreatitis. PMID:25985088
Comprehensively evaluating cis-regulatory variation in the human prostate transcriptome by using gene-level allele-specific expression. PMID:25983244
Human Enhancers Are Fragile and Prone to Deactivating Mutations. PMID:25976354
Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease. PMID:25964206
Evaluation and integration of cancer gene classifiers: identification and ranking of plausible drivers. PMID:25961669
A novel candidate region for genetic adaptation to high altitude in Andean populations. PMID:25961286
SVSI: fast and powerful set-valued system identification approach to identifying rare variants in sequencing studies for ordered categorical traits. PMID:25959545
Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels. PMID:25954321
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. PMID:25954001
An Examination of the Relationship between Lipid Levels and Associated Genetic Markers across Racial/Ethnic Populations in the Multi-Ethnic Study of Atherosclerosis. PMID:25951326
A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing. PMID:25941534
Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies. PMID:25941324
Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci. PMID:25939698
Extracting research-quality phenotypes from electronic health records to support precision medicine. PMID:25937834
Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies. PMID:25937569
Transgenerational inheritance of metabolic disease. PMID:25937492
Epigenetic regulation of differential HLA-A allelic expression levels. PMID:25935001
A systems approach identifies networks and genes linking sleep and stress: implications for neuropsychiatric disorders. PMID:25921536
Understanding multicellular function and disease with human tissue-specific networks. PMID:25915600
A method to associate all possible combinations of genetic and environmental factors using GxE landscape plot. PMID:25914450
A pooling-based approach to mapping genetic variants associated with DNA methylation. PMID:25910490
RSAT 2015: Regulatory Sequence Analysis Tools. PMID:25904632
GREGOR: evaluating global enrichment of trait-associated variants in epigenomic features using a systematic, data-driven approach. PMID:25886982
The ReproGenomics Viewer: an integrative cross-species toolbox for the reproductive science community. PMID:25883147
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes. PMID:25877637
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. PMID:25871441
Targeting the schizophrenia genome: a fast track strategy from GWAS to clinic. PMID:25869805
A comparative study of disease genes and drug targets in the human protein interactome. PMID:25861037
Personalized biochemistry and biophysics. PMID:25856502
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. PMID:25849990
Re-annotation of presumed noncoding disease/trait-associated genetic variants by integrative analyses. PMID:25819875
Genomic architecture of asthma differs by sex. PMID:25817197
Expression quantitative trait loci (eQTL) mapping in Puerto Rican children. PMID:25816334
Drosophila and experimental neurology in the post-genomic era. PMID:25814441
Modulation of genetic associations with serum urate levels by body-mass-index in humans. PMID:25811787
Use of genome-wide association studies for cancer research and drug repositioning. PMID:25803826
Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms. PMID:25799442
Indications for potential parent-of-origin effects within the FTO gene. PMID:25793382
Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders. PMID:25789151
In-silico analysis of inflammatory bowel disease (IBD) GWAS loci to novel connections. PMID:25786114
Genetic structure characterization of Chileans reflects historical immigration patterns. PMID:25778948
Genetics and brain morphology. PMID:25773500
Systematic Integration of Brain eQTL and GWAS Identifies ZNF323 as a Novel Schizophrenia Risk Gene and Suggests Recent Positive Selection Based on Compensatory Advantage on Pulmonary Function. PMID:25759474
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. PMID:25751624
Analysis of long non-coding RNAs highlights tissue-specific expression patterns and epigenetic profiles in normal and psoriatic skin. PMID:25723451
A Multipurpose, High-Throughput Single-Nucleotide Polymorphism Chip for the Dengue and Yellow Fever Mosquito, Aedes aegypti. PMID:25721127
Biological databases for human research. PMID:25712261
Deciphering Genome Environment Wide Interactions Using Exposed Subjects Only. PMID:25694100
Integrative analysis of 111 reference human epigenomes. PMID:25693563
Epigenomics: Roadmap for regulation. PMID:25693562
In-silico identification and functional validation of allele-dependent AR enhancers. PMID:25693204
A Large-Scale Analysis of Genetic Variants within Putative miRNA Binding Sites in Prostate Cancer. PMID:25691096
Multiple system atrophy: the application of genetics in understanding etiology. PMID:25687905
The last enzyme of the de novo purine synthesis pathway 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC) plays a central role in insulin signaling and the Golgi/endosomes protein network. PMID:25687571
Identification of common genetic variants controlling transcript isoform variation in human whole blood. PMID:25685889
Dominance genetic variation contributes little to the missing heritability for human complex traits. PMID:25683123
Accurate liability estimation improves power in ascertained case-control studies. PMID:25664543
Next-generation transcriptome sequencing, SNP discovery and validation in four market classes of peanut, Arachis hypogaea L. PMID:25663138
In silico functional pathway annotation of 86 established prostate cancer risk variants. PMID:25658610
Filter-free exhaustive odds ratio-based genome-wide interaction approach pinpoints evidence for interaction in the HLA region in psoriasis. PMID:25655172
Identification of single-nucleotide polymorphism markers associated with cortisol response to crowding in rainbow trout. PMID:25652693
The selection and function of cell type-specific enhancers. PMID:25650801
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. PMID:25646853
Discovery of Protein-lncRNA Interactions by Integrating Large-Scale CLIP-Seq and RNA-Seq Datasets. PMID:25642422
Prioritizing causal disease genes using unbiased genomic features. PMID:25633252
Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort. PMID:25629170
Fruit flies in biomedical research. PMID:25624315
Whole genome sequences of 2 octogenarians with sustained cognitive abilities. PMID:25618617
Aberrant gene expression in humans. PMID:25617623
New insights into gestational glucose metabolism: lessons learned from 21st century approaches. PMID:25614666
A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations. PMID:25608828
The landscape of long noncoding RNAs in the human transcriptome. PMID:25599403
Characterizing the genetic basis of bacterial phenotypes using genome-wide association studies: a new direction for bacteriology. PMID:25593593
Genome-wide genetic interaction analysis of glaucoma using expert knowledge derived from human phenotype networks. PMID:25592582
Variable selection method for the identification of epistatic models. PMID:25592581
Systematical analyses of variants in CTCF-binding sites identified a novel lung cancer susceptibility locus among Chinese population. PMID:25592173
A genome-wide association study of chronic obstructive pulmonary disease in Hispanics. PMID:25584925
Enhanced transcriptome maps from multiple mouse tissues reveal evolutionary constraint in gene expression. PMID:25582907
Current status and prospects for the study of Nicotiana genomics, genetics, and nicotine biosynthesis genes. PMID:25582664
Personalized preventive medicine: genetics and the response to regular exercise in preventive interventions. PMID:25559061
Assessment of subnetwork detection methods for breast cancer. PMID:25520555
Identifying causal regulatory SNPs in ChIP-seq enhancers. PMID:25520196
Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease. PMID:25493570
Association between Expression Quantitative Trait Loci and Metabolic Traits in Two Korean Populations. PMID:25493549
Genetics of allergic diseases. PMID:25459575
Genetics of immune-mediated disorders: from genome-wide association to molecular mechanism. PMID:25458995
Unbiased approaches to biomarker discovery in neurodegenerative diseases. PMID:25442938
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. PMID:25439097
AlzBase: an Integrative Database for Gene Dysregulation in Alzheimer's Disease. PMID:25432889
Measuring missing heritability: inferring the contribution of common variants. PMID:25422463
Use of contemporary genetics in cardiovascular diagnosis. PMID:25421045
Neuroinformatic analyses of common and distinct genetic components associated with major neuropsychiatric disorders. PMID:25414627
EHFPI: a database and analysis resource of essential host factors for pathogenic infection. PMID:25414353
Communication is the key. : Part 2 : Direct to consumer genetics in our future daily life ? PMID:25408105
Text mining in cancer gene and pathway prioritization. PMID:25392685
CardioGxE, a catalog of gene-environment interactions for cardiometabolic traits. PMID:25368670
Genetic and epigenetic fine mapping of causal autoimmune disease variants. PMID:25363779
Pathway analysis of genome-wide association study and transcriptome data highlights new biological pathways in colorectal cancer. PMID:25362561
VaDE: a manually curated database of reproducible associations between various traits and human genomic polymorphisms. PMID:25361969
Gene: a gene-centered information resource at NCBI. PMID:25355515
Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population. PMID:25350283
Summarizing polygenic risks for complex diseases in a clinical whole-genome report. PMID:25341114
An epidemiological perspective of personalized medicine: the Estonian experience. PMID:25339628
lncRNASNP: a database of SNPs in lncRNAs and their potential functions in human and mouse. PMID:25332392
VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants. PMID:25306238
Genomic determinants of triglyceride and cholesterol distribution into lipoprotein fractions in the rat. PMID:25296178
Genome-wide discovery of drug-dependent human liver regulatory elements. PMID:25275310
Human germline and pan-cancer variomes and their distinct functional profiles. PMID:25232094
Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration. PMID:25213188
Etiology of autism spectrum disorder: a genomics perspective. PMID:25212713
Implementation and utilization of genetic testing in personalized medicine. PMID:25206309
Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. PMID:25205864
Expression QTL-based analyses reveal the mechanisms underlying colorectal cancer predisposition. PMID:25201067
A genome-wide association analysis for porcine serum lipid traits reveals the existence of age-specific genetic determinants. PMID:25189197
Strategies for evaluating idiopathic inflammatory myopathy disease susceptibility genes. PMID:25182674
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. PMID:25177340
Dissecting complex traits using the Drosophila Synthetic Population Resource. PMID:25175100
VSEAMS: a pipeline for variant set enrichment analysis using summary GWAS data identifies IKZF3, BATF and ESRRA as key transcription factors in type 1 diabetes. PMID:25170024
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. PMID:25168388
SecureMA: protecting participant privacy in genetic association meta-analysis. PMID:25147357
Adaptations to local environments in modern human populations. PMID:25129844
Study of exonic variation identifies incremental information regarding lipid-related and coronary heart disease genes. PMID:25124323
NetComm: a network analysis tool based on communicability. PMID:25123899
Lack of association between miR-27a, miR-146a, miR-196a-2, miR-492 and miR-608 gene polymorphisms and colorectal cancer. PMID:25103961
Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. PMID:25077817
Re-defininG AddiC(CH3)Tion: genomics and epigenomics on substance use disorders. PMID:25077169
Recent advances and future challenges in the genetics of multiple sclerosis. PMID:25071715
MicroRNA-138 is a potential regulator of memory performance in humans. PMID:25071529
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer? PMID:25057855
Evaluation of European coeliac disease risk variants in a north Indian population. PMID:25052311
The impact of the human genome project on complex disease. PMID:25032678
eMERGEing progress in genomics-the first seven years. PMID:24987407
GWAS-based pathway analysis differentiates between fluid and crystallized intelligence. PMID:24975275
Genetic-based prediction of disease traits: prediction is very difficult, especially about the future. PMID:24917882
Genome scans for detecting footprints of local adaptation using a Bayesian factor model. PMID:24899666
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
DiseaseConnect: a comprehensive web server for mechanism-based disease-disease connections. PMID:24895436
MORPHIN: a web tool for human disease research by projecting model organism biology onto a human integrated gene network. PMID:24861622
Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia. PMID:24832084
Patterns of genome-wide VDR locations. PMID:24787735
The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection. PMID:24316579
The European Bioinformatics Institute's data resources 2014. PMID:24271396 -
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
PubMed citations: 1090.
1090 articles citing: The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer. PMID:35915169
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations. PMID:35915156
Patterns of Convergence and Divergence Between Bipolar Disorder Type I and Type II: Evidence From Integrative Genomic Analyses. PMID:35912095
Metabolomic predictors of phenotypic traits can replace and complement measured clinical variables in population-scale expression profiling studies. PMID:35907790
fcfdr: an R package to leverage continuous and binary functional genomic data in GWAS. PMID:35907789
Identification of candidate enhancers controlling the transcriptome during the formation of interphalangeal joints. PMID:35896673
Statistical Bioinformatics to Uncover the Underlying Biological Mechanisms That Linked Smoking with Type 2 Diabetes Patients Using Transcritpomic and GWAS Analysis. PMID:35889263
Revisiting the Risk Factors for Endometriosis: A Machine Learning Approach. PMID:35887611
Functional Genomics Analysis to Disentangle the Role of Genetic Variants in Major Depression. PMID:35886042
Unravelling the Distinct Effects of Systolic and Diastolic Blood Pressure Using Mendelian Randomisation. PMID:35886009
GALNT2 rs4846914 SNP Is Associated with Obesity, Atherogenic Lipid Traits, and ANGPTL3 Plasma Level. PMID:35885984
Aggregative trans-eQTL analysis detects trait-specific target gene sets in whole blood. PMID:35882830
Genome-wide variance quantitative trait locus analysis suggests small interaction effects in blood pressure traits. PMID:35879408
Mitochondrial Dysfunction and Chronic Liver Disease. PMID:35877442
Fibrinogen in Alzheimer's Disease, Parkinson's Disease and Lewy Body Dementia: A Mendelian Randomization Study. PMID:35875802
Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors. PMID:35869520
Differential analysis of RNA structure probing experiments at nucleotide resolution: uncovering regulatory functions of RNA structure. PMID:35869080
Cancer susceptibility genes: update and systematic perspectives. PMID:35866046
gene2gauss: A multi-view gaussian gene embedding learner for analyzing transcriptomic networks. PMID:35854722
Single-cell network biology characterizes cell type gene regulation for drug repurposing and phenotype prediction in Alzheimer's disease. PMID:35849618
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers. PMID:35843982
Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank. PMID:35841873
Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity. PMID:35835762
Construction and Application of Polygenic Risk Scores in Autoimmune Diseases. PMID:35833142
The use of genomic variants to drive drug repurposing for chronic hepatitis B. PMID:35832745
The Big Picture of Neurodegeneration: A Meta Study to Extract the Essential Evidence on Neurodegenerative Diseases in a Network-Based Approach. PMID:35832065
Molecular genetics of Parkinson's disease: Contributions and global trends. PMID:35821405
HumanMine: advanced data searching, analysis and cross-species comparison. PMID:35820040
Artificial intelligence and machine-learning approaches in structure and ligand-based discovery of drugs affecting central nervous system. PMID:35819579
Systematic discovery and perturbation of regulatory genes in human T cells reveals the architecture of immune networks. PMID:35817986
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. PMID:35803923
Genetic association and single-cell transcriptome analyses reveal distinct features connecting autoimmunity with cancers. PMID:35800769
Gene Expression Signatures Reveal Common Virus Infection Pathways in Target Tissues of Type 1 Diabetes, Hashimoto's Thyroiditis, and Celiac Disease. PMID:35795668
Stratification of rheumatoid arthritis cohort using Ayurveda based deep phenotyping approach identifies novel genes in a GWAS. PMID:35793592
Gene-based polygenic risk scores analysis of alcohol use disorder in African Americans. PMID:35790736
Prioritizing Suggestive Candidate Genes in Migraine: An Opinion. PMID:35785356
chromMAGMA: regulatory element-centric interrogation of risk variants. PMID:35777959
3DFAACTS-SNP: using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of type 1 diabetes (T1D) risk. PMID:35773720
Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots. PMID:35773277
Deep learning-based integration of genetics with registry data for stratification of schizophrenia and depression. PMID:35767618
Genotype imputation and polygenic score estimation in northwestern Russian population. PMID:35763490
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. PMID:35760791
From drug repositioning to target repositioning: prediction of therapeutic targets using genetically perturbed transcriptomic signatures. PMID:35758779
PolarMorphism enables discovery of shared genetic variants across multiple traits from GWAS summary statistics. PMID:35758773
Expression and Regulatory Network Analysis of BICC1 for Aged Sca-1-Positive Bone Narrow Mesenchymal Stem Cells. PMID:35756494
Epigenetic regulation in cardiovascular disease: mechanisms and advances in clinical trials. PMID:35752619
Epigenomic analysis reveals a dynamic and context-specific macrophage enhancer landscape associated with innate immune activation and tolerance. PMID:35751107
Microbiome-associated human genetic variants impact phenome-wide disease risk. PMID:35749358
A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and Sjögren's Syndrome. PMID:35749015
Genome-Wide Analyses of Nephrotoxicity in Platinum-Treated Cancer Patients Identify Association with Genetic Variant in RBMS3 and Acute Kidney Injury. PMID:35743677
Bioinformatic Prioritization and Functional Annotation of GWAS-Based Candidate Genes for Primary Open-Angle Glaucoma. PMID:35741817
Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse. PMID:35739095
mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights. PMID:35736459
Differentially Expressed miRNAs in Ulcerative Colitis and Crohn's Disease. PMID:35734163
Knockout of Sorbin And SH3 Domain Containing 2 (Sorbs2) in Cardiomyocytes Leads to Dilated Cardiomyopathy in Mice. PMID:35730644
Open problems in human trait genetics. PMID:35725481
The HDAC9-associated risk locus promotes coronary artery disease by governing TWIST1. PMID:35714152
A Hybrid Protocol for Identifying Comorbidity-Based Potential Drugs for COVID-19 Using Biomedical Literature Mining, Network Analysis, and Deep Learning. PMID:35713866
A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources. PMID:35713861
Identifying alcohol misuse biotypes from neural connectivity markers and concurrent genetic associations. PMID:35710901
Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT. PMID:35710628
The FADS1 genotypes modify the effect of linoleic acid-enriched diet on adipose tissue inflammation via pro-inflammatory eicosanoid metabolism. PMID:35701670
Dynamic 3D genome reorganization during development and metabolic stress of the porcine liver. PMID:35701393
The genetics of drug-induced QT prolongation: evaluating the evidence for pharmacodynamic variants. PMID:35698903
DNA methylation patterns reflect individual's lifestyle independent of obesity. PMID:35692099
Role of circulating polyunsaturated fatty acids on cardiovascular diseases risk: analysis using Mendelian randomization and fatty acid genetic association data from over 114,000 UK Biobank participants. PMID:35692035
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity. PMID:35690068
DisPhaseDB: An integrative database of diseases related variations in liquid-liquid phase separation proteins. PMID:35685370
An epigenome-wide study of DNA methylation profiles and lung function among American Indians in the Strong Heart Study. PMID:35681244
PTBP2 - a gene with relevance for both Anorexia nervosa and body weight regulation. PMID:35680849
Heterogeneity of enhancers embodies shared and representative functional groups underlying developmental and cell type-specific gene regulation. PMID:35680026
Somatic point mutations are enriched in non-coding RNAs with possible regulatory function in breast cancer. PMID:35672401
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity. PMID:35668300
Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease. PMID:35668104
Lessons From Transcriptome Analysis of Autoimmune Diseases. PMID:35663941
Applicability of polygenic risk scores in endometriosis clinical presentation. PMID:35659226
Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes. PMID:35657990
Comprehensive characterization of posttranscriptional impairment-related 3'-UTR mutations in 2413 whole genomes of cancer patients. PMID:35654793
XGBG: A Novel Method for Identifying Ovarian Carcinoma Susceptible Genes Based on Deep Learning. PMID:35646648
A genome-wide functional genomics approach uncovers genetic determinants of immune phenotypes in type 1 diabetes. PMID:35638288
Extensive simulations assess the performance of genome-wide association mapping in various Saccharomyces cerevisiae subpopulations. PMID:35634920
Feasibility and application of polygenic score analysis to the morphology of human-induced pluripotent stem cells. PMID:35633379
Consensus Gene Co-Expression Network Analysis Identifies Novel Genes Associated with Severity of Fibrotic Lung Disease. PMID:35628257
Genome-Wide Association Study of Fluorescent Oxidation Products Accounting for Tobacco Smoking Status in Adults from the French EGEA Study. PMID:35624665
Exploring and mitigating potential bias when genetic instrumental variables are associated with multiple non-exposure traits in Mendelian randomization. PMID:35622304
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation. PMID:35618845
Single-Cell Analysis Reveals Transcriptomic Reprogramming in Aging Cardiovascular Endothelial Cells. PMID:35615560
Statistical methods for Mendelian randomization in genome-wide association studies: A review. PMID:35615025
Genome-wide and phenome-wide analysis of ideal cardiovascular health in the VA Million Veteran Program. PMID:35613103
PiER: web-based facilities tailored for genetic target prioritisation harnessing human disease genetics, functional genomics and protein interactions. PMID:35610036
A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits. PMID:35609568
Genetically regulated gene expression and proteins revealed discordant effects. PMID:35604899
Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes. PMID:35588731
Analyzing single cell transcriptome data from severe COVID-19 patients. PMID:35582459
Opportunities and challenges for the use of common controls in sequencing studies. PMID:35581355
Epigenetic and transcriptional dysregulation in CD4+ T cells in patients with atopic dermatitis. PMID:35576187
Functional Screening of Parkinson's Disease Susceptibility Genes to Identify Novel Modulators of α-Synuclein Neurotoxicity in Caenorhabditis elegans. PMID:35572147
Reciprocal Regulation between lncRNA ANRIL and p15 in Steroid-Induced Glaucoma. PMID:35563774
Novel MicroRNA-Regulated Transcript Networks Are Associated with Chemotherapy Response in Ovarian Cancer. PMID:35563265
Integrative analysis of clinical and epigenetic biomarkers of mortality. PMID:35546478
Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits. PMID:35546142
Single-cell eQTL models reveal dynamic T cell state dependence of disease loci. PMID:35545678
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial. PMID:35543701
Multiple sclerosis genetic and non-genetic factors interact through the transient transcriptome. PMID:35534508
Strengthening Causal Inference in Exposomics Research: Application of Genetic Data and Methods. PMID:35533073
Polygenic Risk Scores for Blood Pressure to Assess the Risk of Severe Bevacizumab-Induced Hypertension in Cancer Patients (Alliance). PMID:35527502
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells. PMID:35513721
A hybrid approach unveils drug repurposing candidates targeting an Alzheimer pathophysiology mechanism. PMID:35510183
Chronic psychological stress alters gene expression in rat colon epithelial cells promoting chromatin remodeling, barrier dysfunction and inflammation. PMID:35509963
IMEx Databases: Displaying Molecular Interactions into a Single, Standards-Compliant Dataset. PMID:35507258
Data Mining, Quality and Management in the Life Sciences. PMID:35507257
Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. PMID:35501419
Polymorphism in STAT4 Increase the Risk of Systemic Lupus Erythematosus: An Updated Meta-Analysis. PMID:35493285
Computational and experimental methods for classifying variants of unknown clinical significance. PMID:35483875
Genome- and epigenome-wide studies of plasma protein biomarkers for Alzheimer's disease implicate TBCA and TREM2 in disease risk. PMID:35475137
ExPheWas: a platform for cis-Mendelian randomization and gene-based association scans. PMID:35474380
Decoding the PITX2-controlled genetic network in atrial fibrillation. PMID:35471998
Validation of Candidate Sleep Disorder Risk Genes Using Zebrafish. PMID:35465097
Bronchial epithelium epithelial-mesenchymal plasticity forms aberrant basaloid-like cells in vitro. PMID:35438006
Polygenic risk, population structure and ongoing difficulties with race in human genetics. PMID:35430888
A systematic review and functional bioinformatics analysis of genes associated with Crohn's disease identify more than 120 related genes. PMID:35418025
Machine learning methods applied to genotyping data capture interactions between single nucleotide variants in late onset Alzheimer's disease. PMID:35415203
Search and sequence analysis tools services from EMBL-EBI in 2022. PMID:35412617
The genetics of autoimmune Addison disease: past, present and future. PMID:35411072
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes. PMID:35410384
IPRS: Leveraging Gene-Environment Interaction to Reconstruct Polygenic Risk Score. PMID:35401709
Deciphering how early life adiposity influences breast cancer risk using Mendelian randomization. PMID:35396499
Donor and recipient polygenic risk scores influence the risk of post-transplant diabetes. PMID:35393535
Genetic loci and metabolic states associated with murine epigenetic aging. PMID:35389339
Applications and Challenges of Machine Learning Methods in Alzheimer's Disease Multi-Source Data Analysis. PMID:35386189
Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset. PMID:35386118
MOET: a web-based gene set enrichment tool at the Rat Genome Database for multiontology and multispecies analyses. PMID:35380657
Disrupted long-range gene regulations elucidate shared tissue-specific mechanisms of neuropsychiatric disorders. PMID:35379909
The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation. PMID:35379293
ACE2 and COVID-19 Susceptibility and Severity. PMID:35371596
In-Depth Molecular Profiling Specifies Human Retinal Microglia Identity. PMID:35371110
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases. PMID:35365203
Transcriptional states and chromatin accessibility during bovine myoblasts proliferation and myogenic differentiation. PMID:35362202
Single Cell Transcriptome Sequencing of Zebrafish Testis Revealed Novel Spermatogenesis Marker Genes and Stronger Leydig-Germ Cell Paracrine Interactions. PMID:35360857
A complete reference genome improves analysis of human genetic variation. PMID:35357935
The Shared Mechanism and Candidate Drugs of Multiple Sclerosis and Sjögren's Syndrome Analyzed by Bioinformatics Based on GWAS and Transcriptome Data. PMID:35356004
Genomic diversity and post-admixture adaptation in the Uyghurs. PMID:35350227
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci. PMID:35347128
Multi-Omics Characterization of Early- and Adult-Onset Major Depressive Disorder. PMID:35330412
Network Theoretical Approach to Explore Factors Affecting Signal Propagation and Stability in Dementia's Protein-Protein Interaction Network. PMID:35327643
The synovial and blood monocyte DNA methylomes mirror prognosis, evolution, and treatment in early arthritis. PMID:35324478
Sex-specific genetic modifiers identified susceptibility of cold stored red blood cells to osmotic hemolysis. PMID:35321643
A flexible model-free prediction-based framework for feature ranking. PMID:35321091
Genome-Wide Association Study Identifies Genetic Loci Associated With Fat Cell Number and Overlap With Genetic Risk Loci for Type 2 Diabetes. PMID:35320353
Modelling the genetic aetiology of complex disease: human-mouse conservation of noncoding features and disease-associated loci. PMID:35317627
Incorporating regulatory interactions into gene-set analyses for GWAS data: A controlled analysis with the MAGMA tool. PMID:35316269
Human pancreatic islet miRNA-mRNA networks of altered miRNAs due to glycemic status. PMID:35310942
Positive selection acts on regulatory genetic variants in populations of European ancestry that affect ALDH2 gene expression. PMID:35296751
GeneCup: mining PubMed and GWAS catalog for gene-keyword relationships. PMID:35285473
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations. PMID:35285134
New associations of serum β-carotene, lycopene, and zeaxanthin concentrations with NR1H3, APOB, RDH12, AND CYP genes. PMID:35282004
Understanding signatures of positive natural selection in human zinc transporter genes. PMID:35279701
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. PMID:35276006
Applying Mendelian randomization to appraise causality in relationships between nutrition and cancer. PMID:35274198
Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes. PMID:35264221
The schizophrenia-associated variant in SLC39A8 alters protein glycosylation in the mouse brain. PMID:35260802
Biological mechanisms of aging predict age-related disease co-occurrence in patients. PMID:35259281
THUNDER: A reference-free deconvolution method to infer cell type proportions from bulk Hi-C data. PMID:35259165
CASCADE: high-throughput characterization of regulatory complex binding altered by non-coding variants. PMID:35252945
Ultra Low-Coverage Whole-Genome Sequencing as an Alternative to Genotyping Arrays in Genome-Wide Association Studies. PMID:35251117
Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks. PMID:35249174
Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2. PMID:35246634
The individual and global impact of copy-number variants on complex human traits. PMID:35240056
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data. PMID:35234913
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
GWAS in people of Middle Eastern descent reveals a locus protective of kidney function-a cross-sectional study. PMID:35227251
A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors. PMID:35224516
Coffee Types and Type 2 Diabetes Mellitus: Large-Scale Cross-Phenotype Association Study and Mendelian Randomization Analysis. PMID:35222278
Characterizing mobile element insertions in 5675 genomes. PMID:35212372
Maximal Information Coefficient-Based Testing to Identify Epistasis in Case-Control Association Studies. PMID:35211187
Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy. PMID:35207663
Diagnostic Modalities of Non-Alcoholic Fatty Liver Disease: From Biochemical Biomarkers to Multi-Omics Non-Invasive Approaches. PMID:35204498
Integrative Identification of Genetic Loci Jointly Influencing Diabetes-Related Traits and Sleep Traits of Insomnia, Sleep Duration, and Chronotypes. PMID:35203577
Perspectives in Sports Genomics. PMID:35203507
Genetic associations of protein-coding variants in human disease. PMID:35197637
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. PMID:35197628
Deep neural network prediction of genome-wide transcriptome signatures - beyond the Black-box. PMID:35197482
GWAS of longitudinal trajectories at biobank scale. PMID:35196515
A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study. PMID:35195259
Association of smoking and polygenic risk with the incidence of lung cancer: a prospective cohort study. PMID:35194190
Predicting genotype-specific gene regulatory networks. PMID:35193937
Functional noncoding SNPs in human endothelial cells fine-map vascular trait associations. PMID:35193936
Environmentally sensitive hotspots in the methylome of the early human embryo. PMID:35188105
STAT3-mediated allelic imbalance of novel genetic variant Rs1047643 and B-cell-specific super-enhancer in association with systemic lupus erythematosus. PMID:35188103
Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci. PMID:35186008
Mitochondria in tumour progression: a network of mtDNA variants in different types of cancer. PMID:35183124
Deep learning-based identification of genetic variants: application to Alzheimer's disease classification. PMID:35183061
Human intelectin-2 (ITLN2) is selectively expressed by secretory Paneth cells. PMID:35182405
Evaluating the detection ability of a range of epistasis detection methods on simulated data for pure and impure epistatic models. PMID:35180244
Intersecting single-cell transcriptomics and genome-wide association studies identifies crucial cell populations and candidate genes for atherosclerosis. PMID:35174364
Genetic variation in sodium glucose co-transporter 1 and cardiac structure and function at middle age. PMID:35166069
Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans. PMID:35165267
Epigenomic and Transcriptomic Prioritization of Candidate Obesity-Risk Regulatory GWAS SNPs. PMID:35163195
Genome-wide association study of brain arteriolosclerosis. PMID:35156446
Systemic lupus erythematosus as a genetic disease. PMID:35149194
A roadmap to increase diversity in genomic studies. PMID:35145307
Somatic mutational profiles and germline polygenic risk scores in human cancer. PMID:35144655
The utility of a closed breeding colony of Peromyscus leucopus for dissecting complex traits. PMID:35143664
Interpretable network-guided epistasis detection. PMID:35134928
Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk. PMID:35133173
Linkage analysis identifies novel genetic modifiers of microbiome traits in families with inflammatory bowel disease. PMID:35129060
From GWAS to drug screening: repurposing antipsychotics for glioblastoma. PMID:35120529
Cell-type-specific epigenomic variations associated with BRCA1 mutation in pre-cancer human breast tissues. PMID:35118379
PDE4B Proposed as a High Myopia Susceptibility Gene in Chinese Population. PMID:35116054
First genome-wide association study investigating blood pressure and renal traits in domestic cats. PMID:35115544
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology. PMID:35110524
The DNA methylome of cervical cells can predict the presence of ovarian cancer. PMID:35105887
Enhancer-silencer transitions in the human genome. PMID:35105669
Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer. PMID:35101137
Powerful, efficient QTL mapping in Drosophila melanogaster using bulked phenotyping and pooled sequencing. PMID:35100395
Meta-imputation of transcriptome from genotypes across multiple datasets by leveraging publicly available summary-level data. PMID:35100255
Genetic Determinants of Serum Calcification Propensity and Cardiovascular Outcomes in the General Population. PMID:35097025
The FUT2 Variant c.461G>A (p.Trp154*) Is Associated With Differentially Expressed Genes and Nasopharyngeal Microbiota Shifts in Patients With Otitis Media. PMID:35096646
Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function. PMID:35083324
Coding and regulatory variants are associated with serum protein levels and disease. PMID:35079000
Alzheimer's Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer's Disease. PMID:35068457
Revisiting the malaria hypothesis: accounting for polygenicity and pleiotropy. PMID:35065882
Tissue-specific multi-omics analysis of atrial fibrillation. PMID:35064145
Genomic diversity and signatures of selection in meat and fancy rabbit breeds based on high-density marker data. PMID:35062866
Polympact: exploring functional relations among common human genetic variants. PMID:35061909
Integration of Genomic Risk Scores to Improve the Prediction of Childhood Asthma Diagnosis. PMID:35055391
Identification of Druggable Genes for Asthma by Integrated Genomic Network Analysis. PMID:35052792
Thirteen Independent Genetic Loci Associated with Preserved Processing Speed in a Study of Cognitive Resilience in 330,097 Individuals in the UK Biobank. PMID:35052462
Genome-wide association study identifies genetic risk loci for adiposity in a Taiwanese population. PMID:35051171
Population-based genetic effects for developmental stuttering. PMID:35047858
TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8. PMID:35047855
Genome-wide association studies of 27 accelerometry-derived physical activity measurements identified novel loci and genetic mechanisms. PMID:35043453
Methods for statistical fine-mapping and their applications to auto-immune diseases. PMID:35041074
Identification of putative genetic variants in major depressive disorder patients in Pakistan. PMID:35040003
LncRNA functional annotation with improved false discovery rate achieved by disease associations. PMID:35035785
Single-cell transcriptomics of human iPSC differentiation dynamics reveal a core molecular network of Parkinson's disease. PMID:35027645
Mapping Complex Brain Torque Components and Their Genetic Architecture and Phenomic Associations in 24,112 Individuals. PMID:35027165
Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations. PMID:35025869
Shared genetic liability between major depressive disorder and osteoarthritis. PMID:35023758
Fine mapping with epigenetic information and 3D structure. PMID:35022890
DeepNull models non-linear covariate effects to improve phenotypic prediction and association power. PMID:35017556
Contribution of 3D genome topological domains to genetic risk of cancers: a genome-wide computational study. PMID:35016721
Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis. PMID:35013273
Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population. PMID:35012284
Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population. PMID:35011749
Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis. PMID:35008743
The 3p21.31 genetic locus promotes progression to type 1 diabetes through the CCR2/CCL2 pathway. PMID:35005592
A network-based integration for understanding racial disparity in prostate cancer. PMID:34998235
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits. PMID:34995504
The characteristics of early-stage research into human genes are substantially different from subsequent research. PMID:34990452
The importance of enhancer methylation for epigenetic regulation of tumorigenesis in squamous lung cancer. PMID:34987166
SNP characteristics and validation success in genome wide association studies. PMID:34981173
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function. PMID:34980917
Gene-Based Testing of Interactions Using XGBoost in Genome-Wide Association Studies. PMID:34977040
Genome-Wide Association Study of 2,093 Cases With Idiopathic Polyneuropathy and 445,256 Controls Identifies First Susceptibility Loci. PMID:34975738
Genomic insights in ascending aortic size and distensibility. PMID:34968759
MicroRNAs expression influence in ulcerative colitis and Crohn's disease: A pilot study for the identification of diagnostic biomarkers. PMID:34963743
Combining Human Genetics of Multiple Sclerosis with Oxidative Stress Phenotype for Drug Repositioning. PMID:34959343
GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome. PMID:34957435
Testing Gene-Gene Interactions Based on a Neighborhood Perspective in Genome-wide Association Studies. PMID:34956337
An integrated brain-specific network identifies genes associated with neuropathologic and clinical traits of Alzheimer's disease. PMID:34953465
Integration of high-resolution promoter profiling assays reveals novel, cell type-specific transcription start sites across 115 human cell and tissue types. PMID:34949670
Interplay between Genome, Metabolome and Microbiome in Colorectal Cancer. PMID:34944836
Genomic and Personalized Medicine Approaches for Substance Use Disorders (SUDs) Looking at Genome-Wide Association Studies. PMID:34944615
Gene-Toxicant Interactions in Gulf War Illness: Differential Effects of the PON1 Genotype. PMID:34942860
Translesion DNA synthesis-driven mutagenesis in very early embryogenesis of fast cleaving embryos. PMID:34939656
Two-Sample Multivariable Mendelian Randomization Analysis Using R. PMID:34936225
LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data. PMID:34930111
cLoops2: a full-stack comprehensive analytical tool for chromatin interactions. PMID:34928392
Genome-Wide Association and Mendelian Randomization Analysis Reveal the Causal Relationship Between White Blood Cell Subtypes and Asthma in Africans. PMID:34925446
Deciphering the Irregular Risk of Stroke Increased by Obesity Classes: A Stratified Mendelian Randomization Study. PMID:34925231
TranSNPs: A class of functional SNPs affecting mRNA translation potential revealed by fraction-based allelic imbalance. PMID:34917903
Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank. PMID:34912076
Carnitine and COVID-19 Susceptibility and Severity: A Mendelian Randomization Study. PMID:34901126
Gluten-free Diet Reduces the Risk of Irritable Bowel Syndrome: A Mendelian Randomization Analysis. PMID:34899821
A Co-Association Network Analysis Reveals Putative Regulators for Health-Related Traits in Pigs. PMID:34899750
CoRE-ATAC: A deep learning model for the functional classification of regulatory elements from single cell and bulk ATAC-seq data. PMID:34898596
A new Mendelian Randomization method to estimate causal effects of multivariable brain imaging exposures. PMID:34890138
The power of genetic diversity in genome-wide association studies of lipids. PMID:34887591
Intestinal Inflammation and Parkinson's Disease. PMID:34881085
Improved analyses of GWAS summary statistics by reducing data heterogeneity and errors. PMID:34880243
Mitochondrial DNA Copy Number as a Marker and Mediator of Stroke Prognosis: Observational and Mendelian Randomization Analyses. PMID:34880091
Sequencing-based genome-wide association studies reporting standards. PMID:34870259
Causal Effects of Genetically Predicted Iron Status on Sepsis: A Two-Sample Bidirectional Mendelian Randomization Study. PMID:34869523
Integrated omics analysis reveals sirtuin signaling is central to hepatic response to a high fructose diet. PMID:34861817
Shared Genetic Liability and Causal Associations Between Major Depressive Disorder and Cardiovascular Diseases. PMID:34859065
Large-scale integration of the plasma proteome with genetics and disease. PMID:34857953
Genomics and transcriptomics landscapes associated to changes in insulin sensitivity in response to endurance exercise training. PMID:34857871
Genetic Risk for Smoking: Disentangling Interplay Between Genes and Socioeconomic Status. PMID:34855049
Twenty-Five Novel Loci for Carotid Intima-Media Thickness: A Genome-Wide Association Study in >45 000 Individuals and Meta-Analysis of >100 000 Individuals. PMID:34852643
miRTarBase update 2022: an informative resource for experimentally validated miRNA-target interactions. PMID:34850920
Novel role of prostate cancer risk variant rs7247241 on PPP1R14A isoform transition through allelic TF binding and CpG methylation. PMID:34849858
A 3D structural SARS-CoV-2-human interactome to explore genetic and drug perturbations. PMID:34845387
Bench Research Informed by GWAS Results. PMID:34831407
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability. PMID:34829957
A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences. PMID:34828409
Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study. PMID:34827661
Sex-Specific Causal Relations between Steroid Hormones and Obesity-A Mendelian Randomization Study. PMID:34822396
Genetic Contributions to Prostate Cancer Disparities in Men of West African Descent. PMID:34820334
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial. PMID:34816521
Transcript-targeted analysis reveals isoform alterations and double-hop fusions in breast cancer. PMID:34811492
An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations. PMID:34804113
Heritability Enrichment of Immunoglobulin G N-Glycosylation in Specific Tissues. PMID:34804021
Genome-wide differentially methylated genes associated with posttraumatic stress disorder and longitudinal change in methylation in rape survivors. PMID:34799556
Epstein-Barr virus nuclear antigen 2 extensively rewires the human chromatin landscape at autoimmune risk loci. PMID:34799401
Use ggbreak to Effectively Utilize Plotting Space to Deal With Large Datasets and Outliers. PMID:34795698
Inferred expression regulator activities suggest genes mediating cardiometabolic genetic signals. PMID:34793442
CircleBase: an integrated resource and analysis platform for human eccDNAs. PMID:34792166
Epitranscriptomics of cardiovascular diseases (Review). PMID:34791505
Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus. PMID:34791504
Transmission distortion and genetic incompatibilities between alleles in a multigenerational mouse advanced intercross line. PMID:34791189
Intraocular dendritic cells characterize HLA-B27-associated acute anterior uveitis. PMID:34783307
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps. PMID:34782789
Genetic loci for lung function in Japanese adults with adjustment for exhaled nitric oxide levels as airway inflammation indicator. PMID:34782693
IRF7 and RNH1 are modifying factors of HIV-1 reservoirs: a genome-wide association analysis. PMID:34781942
PIK3R5 genetic predictors of hypertension induced by VEGF-pathway inhibitors. PMID:34775477
A single-cell atlas of chromatin accessibility in the human genome. PMID:34774128
LncRNAs in domesticated animals: from dog to livestock species. PMID:34773482
A Review of Breast Cancer Risk Factors in Adolescents and Young Adults. PMID:34771713
Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery. PMID:34769022
Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation. PMID:34764282
Cigarette smoking-associated isoform switching and 3' UTR lengthening via alternative polyadenylation. PMID:34763026
scEnhancer: a single-cell enhancer resource with annotation across hundreds of tissue/cell types in three species. PMID:34761274
Loss of Function Glucose-Dependent Insulinotropic Polypeptide Receptor Variants Are Associated With Alterations in BMI, Bone Strength and Cardiovascular Outcomes. PMID:34760890
Prioritisation of Candidate Genes Underpinning COVID-19 Host Genetic Traits Based on High-Resolution 3D Chromosomal Topology. PMID:34759959
Priority index: database of genetic targets in immune-mediated disease. PMID:34751399
Constructing germline research cohorts from the discarded reads of clinical tumor sequences. PMID:34749793
Computational workflow for functional characterization of COVID-19 through secondary data analysis. PMID:34746856
A large Canadian cohort provides insights into the genetic architecture of human hair colour. PMID:34737440
Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus. PMID:34737427
Epigenetic adaptations of the masticatory mucosa to periodontal inflammation. PMID:34732256
Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. PMID:34732054
Genome-wide CRISPR interference screen identifies long non-coding RNA loci required for differentiation and pluripotency. PMID:34731163
Evaluating Causal Relationship Between Metabolites and Six Cardiovascular Diseases Based on GWAS Summary Statistics. PMID:34721534
Drug Repurposing for Atopic Dermatitis by Integration of Gene Networking and Genomic Information. PMID:34721386
BrainBase: a curated knowledgebase for brain diseases. PMID:34718720
Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies. PMID:34713254
Replication of chromosomal loci involved in Parkinson's disease: A quantitative synthesis of GWAS. PMID:34712594
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci. PMID:34711957
Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation. PMID:34702931
Chromatin accessibility and gene expression during adipocyte differentiation identify context-dependent effects at cardiometabolic GWAS loci. PMID:34699533
Untargeted Metabolome- and Transcriptome-Wide Association Study Suggests Causal Genes Modulating Metabolite Concentrations in Urine. PMID:34699229
Identification of novel genome-wide pleiotropic associations with oral inflammatory traits. PMID:34694461
Recent innovations and in-depth aspects of post-genome wide association study (Post-GWAS) to understand the genetic basis of complex phenotypes. PMID:34689168
The flashfm approach for fine-mapping multiple quantitative traits. PMID:34686674
FTO and PLAG1 Genes Expression and FTO Methylation Predict Changes in Circulating Levels of Adipokines and Gastrointestinal Peptides in Children. PMID:34684585
Carrot Consumption Frequency Associated with Reduced BMI and Obesity through the SNP Intermediary rs4445711. PMID:34684477
Intergenic SNPs in Obstructive Sleep Apnea Syndrome: Revealing Metabolic, Oxidative Stress and Immune-Related Pathways. PMID:34679450
Genome-Wide Admixture Mapping of Estimated Glomerular Filtration Rate and Chronic Kidney Disease Identifies European and African Ancestry-of-Origin Loci in Hispanic and Latino Individuals in the United States. PMID:34670813
Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individuals. PMID:34670603
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study. PMID:34669946
Leveraging auxiliary data from arbitrary distributions to boost GWAS discovery with Flexible cFDR. PMID:34669738
Deciphering the link between Diabetes mellitus and SARS-CoV-2 infection through differential targeting of microRNAs in the human pancreas. PMID:34669152
Risk of migraine contributed by genetic polymorphisms of ANKDD1B gene: a case-control study based on Chinese Han population. PMID:34669083
Sequence complementarity between human noncoding RNAs and SARS-CoV-2 genes: What are the implications for human health? PMID:34662705
An Efficient Score Test Integrated with Empirical Bayes for Genome-Wide Association Studies. PMID:34659362
From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries. PMID:34659337
Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. PMID:34654805
Prioritization of regulatory variants with tissue-specific function in the non-coding regions of human genome. PMID:34648033
TIGER: The gene expression regulatory variation landscape of human pancreatic islets. PMID:34644572
Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits. PMID:34620218
CoMM-S4: A Collaborative Mixed Model Using Summary-Level eQTL and GWAS Datasets in Transcriptome-Wide Association Studies. PMID:34616426
A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response. PMID:34611364
The need to shift pharmacogenetic research from candidate gene to genome-wide association studies. PMID:34608812
Beyond GWAS: from simple associations to functional insights. PMID:34605948
Parallel functional testing identifies enhancers active in early postnatal mouse brain. PMID:34605404
The Immunoregulatory Role of the Signal Regulatory Protein Family and CD47 Signaling Pathway in Type 1 Diabetes. PMID:34603322
MungeSumstats: A Bioconductor package for the standardisation and quality control of many GWAS summary statistics. PMID:34601555
Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2. PMID:34590679
Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function. PMID:34588469
An integrated approach to identify environmental modulators of genetic risk factors for complex traits. PMID:34582792
Genetic variants associated with platelet count are predictive of human disease and physiological markers. PMID:34580418
False discovery rate control in genome-wide association studies with population structure. PMID:34580220
Assigning Co-Regulated Human Genes and Regulatory Gene Clusters. PMID:34572044
VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases. PMID:34570217
Multi-Trait Genomic Risk Stratification for Type 2 Diabetes. PMID:34568370
Shared Genetic Liability Between Major Depressive Disorder and Atopic Diseases. PMID:34566951
The genetics of obesity: from discovery to biology. PMID:34556834
Epigenome-wide association study detects a novel loci associated with central obesity in healthy subjects. PMID:34556110
Novel insights into the molecular mechanisms underlying risk of colorectal cancer from smoking and red/processed meat carcinogens by modeling exposure in normal colon organoids. PMID:34548904
Revisiting genetic artifacts on DNA methylation microarrays exposes novel biological implications. PMID:34548083
Biomedical Data Commons (BMDC) prioritizes B-lymphocyte non-coding genetic variants in Type 1 Diabetes. PMID:34543288
TCF7L2 lncRNA: a link between bipolar disorder and body mass index through glucocorticoid signaling. PMID:34535768
A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism. PMID:34535545
Genetic variants associated with inflammatory bowel disease and gut graft-versus-host disease. PMID:34535014
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution. PMID:34534445
GPEdit: the genetic and pharmacogenomic landscape of A-to-I RNA editing in cancers. PMID:34534336
Genetic dissection of complex traits using hierarchical biological knowledge. PMID:34534210
Natural selection contributes to the myopia epidemic. PMID:34532151
circMine: a comprehensive database to integrate, analyze and visualize human disease-related circRNA transcriptome. PMID:34530446
Lack of association of FKBP5 SNPs and haplotypes with susceptibility and treatment response phenotypes in Han Chinese with major depressive disorder: A pilot case-control study (STROBE). PMID:34516490
Integrative Transcriptome-Wide Analyses Uncover Novel Risk-Associated MicroRNAs in Hormone-Dependent Cancers. PMID:34512726
Interactive Association Between CYP2C9 rs2860905 Polymorphism and Atrial Fibrillation on Ischemic Stroke in Taiwan Biobank Participants. PMID:34511979
Integrative analysis of epigenetics data identifies gene-specific regulatory elements. PMID:34508352
A transcriptome-wide association study identifies susceptibility genes for Parkinson's disease. PMID:34504106
Common Genetic Aberrations Associated with Metabolic Interferences in Human Type-2 Diabetes and Acute Myeloid Leukemia: A Bioinformatics Approach. PMID:34502231
RNA binding motif 47 (RBM47): emerging roles in vertebrate development, RNA editing and cancer. PMID:34499322
Interpretable artificial neural networks incorporating Bayesian alphabet models for genome-wide prediction and association studies. PMID:34499126
Glycosylation and Aging. PMID:34495544
Interpretable artificial neural networks incorporating Bayesian alphabet models for genome-wide prediction and association studies. PMID:34499126
Glycosylation and Aging. PMID:34495544
Sex differences in genetic architecture in the UK Biobank. PMID:34493869
SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits. PMID:34493297
Genes in human obesity loci are causal obesity genes in C. elegans. PMID:34492009
ReFeaFi: Genome-wide prediction of regulatory elements driving transcription initiation. PMID:34491989
Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction. PMID:34489429
A computational approach for identification of core modules from a co-expression network and GWAS data. PMID:34467232
Polygenic Risk Score Improves Risk Stratification and Prediction of Subsequent Thyroid Cancer after Childhood Cancer. PMID:34465587
Multitrait GWAS to connect disease variants and biological mechanisms. PMID:34460823
Mendelian Randomization in Stroke: A Powerful Approach to Causal Inference and Drug Target Validation. PMID:34456968
Integration of Multiple-Omics Data to Analyze the Population-Specific Differences for Coronary Artery Disease. PMID:34447459
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction. PMID:34446935
Whole-Genome Differentially Hydroxymethylated DNA Regions among Twins Discordant for Cardiovascular Death. PMID:34440357
Transcriptional Regulation of RUNX1: An Informatics Analysis. PMID:34440349
A genome-wide association study of the frailty index highlights brain pathways in ageing. PMID:34431594
Artificial image objects for classification of schizophrenia with GWAS-selected SNVs and convolutional neural network. PMID:34430925
Quantitative Human Paleogenetics: What can Ancient DNA Tell us About Complex Trait Evolution? PMID:34422004
Runx Transcription Factors in T Cells-What Is Beyond Thymic Development? PMID:34421907
Identifying causal models between genetically regulated methylation patterns and gene expression in healthy colon tissue. PMID:34419169
Dynamic landscape of chromatin accessibility and transcriptomic changes during differentiation of human embryonic stem cells into dopaminergic neurons. PMID:34417498
A COVARIANCE-ENHANCED APPROACH TO MULTI-TISSUE JOINT EQTL MAPPING WITH APPLICATION TO TRANSCRIPTOME-WIDE ASSOCIATION STUDIES. PMID:34413922
Easy-Prime: a machine learning-based prime editor design tool. PMID:34412673
Knocking down Israa, the Zmiz1 intron-nested gene, unveils interrelated T cell activation functions in mouse. PMID:34409174
Isoform Age - Splice Isoform Profiling Using Long-Read Technologies. PMID:34409069
The role of prefrontal cortex in cognitive control and executive function. PMID:34408280
Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. PMID:34407845
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. PMID:34407837
Continuity of Genetic Risk for Aggressive Behavior Across the Life-Course. PMID:34390460
Transcriptome-wide In Vitro Effects of Aspirin on Patient-derived Normal Colon Organoids. PMID:34389629
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility. PMID:34379666
Rare variant contribution to human disease in 281,104 UK Biobank exomes. PMID:34375979
The functional role of inherited CDKN2A variants in childhood acute lymphoblastic leukemia. PMID:34369425
Computational Investigation of the pH Dependence of Stability of Melanosome Proteins: Implication for Melanosome formation and Disease. PMID:34361043
A Causal Web between Chronotype and Metabolic Health Traits. PMID:34356044
Exploring the Impact of Cerebrovascular Disease and Major Depression on Non-diseased Human Tissue Transcriptomes. PMID:34349785
Decoding disease: from genomes to networks to phenotypes. PMID:34341555
A machine learning case-control classifier for schizophrenia based on DNA methylation in blood. PMID:34341337
Abnormalities of the type I interferon signaling pathway in lupus autoimmunity. PMID:34340046
An efficient linear mixed model framework for meta-analytic association studies across multiple contexts. PMID:34335990
Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study. PMID:34329319
Direct characterization of cis-regulatory elements and functional dissection of complex genetic associations using HCR-FlowFISH. PMID:34326544
Coexpression of the discoidin domain receptor 1 gene with oligodendrocyte-related and schizophrenia risk genes in the developing and adult human brain. PMID:34323026
A Novel Method for Mendelian Randomization Analyses With Pleiotropy and Linkage Disequilibrium in Genetic Variants From Individual Data. PMID:34322150
Functionathon: a manual data mining workflow to generate functional hypotheses for uncharacterized human proteins and its application by undergraduate students. PMID:34318869
Cancer LncRNA Census 2 (CLC2): an enhanced resource reveals clinical features of cancer lncRNAs. PMID:34316704
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms. PMID:34315874
Gaining insight into metabolic diseases from human genetic discoveries. PMID:34315631
VarSAn: associating pathways with a set of genomic variants using network analysis. PMID:34313777
Multiethnic Prediction of Nicotine Biomarkers and Association With Nicotine Dependence. PMID:34313775
A genetic variant alters the secondary structure of the lncRNA H19 and is associated with dilated cardiomyopathy. PMID:34313541
Twin studies to GWAS: there and back again. PMID:34312064
Relevance between COVID-19 and host genetics of immune response. PMID:34305429
A Panel of rSNPs Demonstrating Allelic Asymmetry in Both ChIP-seq and RNA-seq Data and the Search for Their Phenotypic Outcomes through Analysis of DEGs. PMID:34298860
DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies. PMID:34296082
DeepGP: An Integrated Deep Learning Method for Endocrine Disease Gene Prediction Using Omics Data. PMID:34295899
GWAS-Top Polymorphisms Associated With Late-Onset Alzheimer Disease in Brazil: Pointing Out Possible New Culprits Among Non-Coding RNAs. PMID:34291080
Transcriptome-Wide Association Study for Inflammatory Bowel Disease Reveals Novel Candidate Susceptibility Genes in Specific Colon Subsites and Tissue Categories. PMID:34286847
RNA Sequencing of CD4+ T Cells in Relapsing-Remitting Multiple Sclerosis Patients at Relapse: Deciphering the Involvement of Novel genes and Pathways. PMID:34286457
Integrative Single-Cell Transcriptomic Analysis of Human Fetal Thymocyte Development. PMID:34276782
Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders. PMID:34274964
Lack of CpG islands in human unitary pseudogenes and its implication. PMID:34272576
Novel genetic variants associated with brain functional networks in 18,445 adults from the UK Biobank. PMID:34272439
In vivo and in vitro human gene essentiality estimations capture contrasting functional constraints. PMID:34268495
100 years of insulin: celebrating the past, present and future of diabetes therapy. PMID:34267380
Review of eating disorders and oxytocin receptor polymorphisms. PMID:34256847
InTACT: An adaptive and powerful framework for joint-tissue transcriptome-wide association studies. PMID:34255882
The 2021 update of the EPA's adverse outcome pathway database. PMID:34253739
Tissue-specific 5-hydroxymethylcytosine landscape of the human genome. PMID:34253716
Microbiota Modulates Cardiac Transcriptional Responses to Intermittent Hypoxia and Hypercapnia. PMID:34248668
Mapping the human genetic architecture of COVID-19. PMID:34237774
Pain Experience in Pancreatitis: Strong Association of Genetic Risk Loci for Anxiety and PTSD in Patients With Severe, Constant, and Constant-Severe Pain. PMID:34236339
Individual-specific functional epigenomics reveals genetic determinants of adverse metabolic effects of glucocorticoids. PMID:34233159
Translational Pharmacogenomics: Discovery, Evidence Synthesis and Delivery of Race-Conscious Medicine. PMID:34233023
Joint disease-specificity at the regulatory base-pair level. PMID:34230488
Nonproductive Splicing Prevents Expression of MYH7b Protein in the Mammalian Heart. PMID:34227390
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses. PMID:34226706
Type 1 Diabetes and the HLA Region: Genetic Association Besides Classical HLA Class II Genes. PMID:34220961
Improving the Utility of Polygenic Risk Scores as a Biomarker for Alzheimer's Disease. PMID:34209762
Machine Learning Prediction of Biomarkers from SNPs and of Disease Risk from Biomarkers in the UK Biobank. PMID:34209487
Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases. PMID:34208629
Genetic Ancestry Inference and Its Application for the Genetic Mapping of Human Diseases. PMID:34203440
Prediction of Probable Major Depressive Disorder in the Taiwan Biobank: An Integrated Machine Learning and Genome-Wide Analysis Approach. PMID:34202750
Genome-wide association studies: assessing trait characteristics in model and crop plants. PMID:34196733
Green Algorithms: Quantifying the Carbon Footprint of Computation. PMID:34194954
Genetic mapping of developmental trajectories for complex traits and diseases. PMID:34194671
Innate immune response analysis in COVID-19 and kawasaki disease reveals MIS-C predictors. PMID:34193364
Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging. PMID:34187551
Genomewide Association Studies in Pharmacogenomics. PMID:34185318
Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals. PMID:34184762
Instrumental Heterogeneity in Sex-Specific Two-Sample Mendelian Randomization: Empirical Results From the Relationship Between Anthropometric Traits and Breast/Prostate Cancer. PMID:34178025
Multi-Omics Approaches in Immunological Research. PMID:34177908
Footprints in the Sand: Deep Taxonomic Comparisons in Vertebrate Genomics to Unveil the Genetic Programs of Human Longevity. PMID:34163529
Genome-wide association study of signature genetic alterations among pseudomonas aeruginosa cystic fibrosis isolates. PMID:34161396
Genetic Association Between Schizophrenia and Cortical Brain Surface Area and Thickness. PMID:34160554
BACH1 Binding Links the Genetic Risk for Severe Periodontitis with ST8SIA1. PMID:34160287
Novel loci and potential mechanisms of major depressive disorder, bipolar disorder, and schizophrenia. PMID:34159505
Accurate prediction of cis-regulatory modules reveals a prevalent regulatory genome of humans. PMID:34159315
Summix: A method for detecting and adjusting for population structure in genetic summary data. PMID:34157305
Causal inference for heritable phenotypic risk factors using heterogeneous genetic instruments. PMID:34157017
Dysregulation of brain and choroid plexus cell types in severe COVID-19. PMID:34153974
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions. PMID:34149802
RápidoPGS: A rapid polygenic score calculator for summary GWAS data without a test dataset. PMID:34145897
Human intelectin-1 (ITLN1) genetic variation and intestinal expression. PMID:34145348
Statistical methods for mediation analysis in the era of high-throughput genomics: Current successes and future challenges. PMID:34141140
A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations. PMID:34140970
Common genetic variation influencing human white matter microstructure. PMID:34140357
Association of medically assisted reproduction with offspring cord blood DNA methylation across cohorts. PMID:34136910
Genetic Determinants Highlight the Existence of Shared Etiopathogenetic Mechanisms Characterizing Age-Related Macular Degeneration and Neurodegenerative Disorders. PMID:34135841
Mendelian Randomization Analysis as a Tool to Gain Insights into Causes of Diseases: A Primer. PMID:34135084
Plasma Proteomics of Renal Function: A Trans-ethnic Meta-analysis and Mendelian Randomization Study. PMID:34135082
Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning. PMID:34128465
Genetic variations in medical research in the past, at present and in the future. PMID:34121043
A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals. PMID:34117260
Deep learning model reveals potential risk genes for ADHD, especially Ephrin receptor gene EPHA5. PMID:34109382
Admixed Populations Improve Power for Variant Discovery and Portability in Genome-Wide Association Studies. PMID:34108994
Genome-wide analysis of retinal transcriptome reveals common genetic network underlying perception of contrast and optical defocus detection. PMID:34107987
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders. PMID:34099189
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences. PMID:34099068
Therapeutic Targeting of Repurposed Anticancer Drugs in Alzheimer's Disease: Using the Multiomics Approach. PMID:34095679
Evaluating marginal genetic correlation of associated loci for complex diseases and traits between European and East Asian populations. PMID:34091770
Derangement of cell cycle markers in peripheral blood mononuclear cells of asthmatic patients as a reliable biomarker for asthma control. PMID:34088958
Genome-wide association study on blood pressure traits in the Iranian population suggests ZBED9 as a new locus for hypertension. PMID:34083597
Patterns of recent natural selection on genetic loci associated with sexually differentiated human body size and shape phenotypes. PMID:34081690
ANGPTL3 Variants Associate with Lower Levels of Irisin and C-Peptide in a Cohort of Arab Individuals. PMID:34067751
Analysis and Interpretation of the Impact of Missense Variants in Cancer. PMID:34063805
Methylation and Expression of FTO and PLAG1 Genes in Childhood Obesity: Insight into Anthropometric Parameters and Glucose-Lipid Metabolism. PMID:34063412
Rare variants regulate expression of nearby individual genes in multiple tissues. PMID:34061836
The Role of Epigenomic Regulatory Pathways in the Gut-Brain Axis and Visceral Hyperalgesia. PMID:34057682
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. PMID:34050153
Mergeomics 2.0: a web server for multi-omics data integration to elucidate disease networks and predict therapeutics. PMID:34048577
The COVID-19 Data Portal: accelerating SARS-CoV-2 and COVID-19 research through rapid open access data sharing. PMID:34048576
snpXplorer: a web application to explore human SNP-associations and annotate SNP-sets. PMID:34048563
Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes. PMID:34045765
Rare protein-coding variants implicate genes involved in risk of suicide death. PMID:34042246
Genetic effects on liver chromatin accessibility identify disease regulatory variants. PMID:34038741
The Role of Electronic Health Records in Advancing Genomic Medicine. PMID:34038146
Genetic associations for two biological age measures point to distinct aging phenotypes. PMID:34038024
Identification of putative causal loci in whole-genome sequencing data via knockoff statistics. PMID:34035245
Development and Validation of a Polygenic Risk Score for Stroke in the Chinese Population. PMID:34031205
Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci. PMID:34024118
Genome-wide association study identifies TNFSF15 associated with childhood asthma. PMID:34022066
WEVar: a novel statistical learning framework for predicting noncoding regulatory variants. PMID:34021560
GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer. PMID:34021172
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients. PMID:34019647
PolyQ length co-evolution in neural proteins. PMID:34017944
Gene action, genetic variation, and GWAS: A user-friendly web tool. PMID:34014919
A bioinformatic study revealed serotonergic neurons are involved in the etiology and therapygenetics of anxiety disorders. PMID:34011923
Multi-omics data integration and network-based analysis drives a multiplex drug repurposing approach to a shortlist of candidate drugs against COVID-19. PMID:34009288
Transcriptome-wide association analysis of brain structures yields insights into pleiotropy with complex neuropsychiatric traits. PMID:34001886
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility. PMID:34001247
Modeling regulatory network topology improves genome-wide analyses of complex human traits. PMID:33990562
Endothelial genetic deletion of CD147 induces changes in the dual function of the blood-brain barrier and is implicated in Alzheimer's disease. PMID:33987940
Plasma Metabolomic Signatures of Chronic Obstructive Pulmonary Disease and the Impact of Genetic Variants on Phenotype-Driven Modules. PMID:33987620
3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. PMID:33983923
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss. PMID:33983508
Landscape of allele-specific transcription factor binding in the human genome. PMID:33980847
CoffeeProt: an online tool for correlation and functional enrichment of systems genetics data. PMID:33978718
Prioritization of Osteoporosis-Associated Genome-wide Association Study (GWAS) Single-Nucleotide Polymorphisms (SNPs) Using Epigenomics and Transcriptomics. PMID:33977200
Causal influences of neuroticism on mental health and cardiovascular disease. PMID:33973063
Modeling the Evolutionary Architectures of Transcribed Human Enhancer Sequences Reveals Distinct Origins, Functions, and Associations with Human Trait Variation. PMID:33973014
Genoppi is an open-source software for robust and standardized integration of proteomic and genetic data. PMID:33972534
Genetically Predicted Circulating C-Reactive Protein Concentration and Colorectal Cancer Survival: A Mendelian Randomization Consortium Study. PMID:33972368
EpiMap: Fine-tuning integrative epigenomics maps to understand complex human regulatory genomic circuitry. PMID:33966052
Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs. PMID:33964879
Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction. PMID:33964208
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. PMID:33961779
Common genetic associations between age-related diseases. PMID:33959723
Tejaas: reverse regression increases power for detecting trans-eQTLs. PMID:33957961
LitSuggest: a web-based system for literature recommendation and curation using machine learning. PMID:33950204
Comparison of adaptive multiple phenotype association tests using summary statistics in genome-wide association studies. PMID:33949650
Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants. PMID:33948580
Evaluation of polygenic prediction methodology within a reference-standardized framework. PMID:33945532
The Polygenic and Monogenic Basis of Paediatric Fractures. PMID:33945105
Genetic correlations between COVID-19 and a variety of traits and diseases. PMID:33942034
Learning a genome-wide score of human-mouse conservation at the functional genomics level. PMID:33941776
New insights into hallux valgus by whole exome sequencing study. PMID:33926255
Novel lincRNA Discovery and Tissue-Specific Gene Expression across 30 Normal Human Tissues. PMID:33919168
Drebrin attenuates atherosclerosis by limiting smooth muscle cell transdifferentiation. PMID:33914863
Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy. PMID:33911285
Genetic evidence suggests posttraumatic stress disorder as a subtype of major depressive disorder. PMID:33905376
Understanding interactions between risk factors, and assessing the utility of the additive and multiplicative models through simulations. PMID:33901204
Virus-derived variation in diverse human genomes. PMID:33901175
Geographic variation in the polygenic score of height in Japan. PMID:33900438
MicroRNA Expression Differences in Blood-Derived CD19+ B Cells of Methotrexate Treated Rheumatoid Arthritis Patients. PMID:33897713
Pathway analysis for genome-wide genetic variation data: Analytic principles, latest developments, and new opportunities. PMID:33896739
Estimating sequencing error rates using families. PMID:33892748
Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank. PMID:33890984
Genetic analyses identify widespread sex-differential participation bias. PMID:33888908
Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease. PMID:33888516
The cis-regulatory effects of modern human-specific variants. PMID:33885362
DNA methylation biomarkers of myocardial infarction and cardiovascular disease. PMID:33883000
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
Assessment of Bidirectional Relationships Between Polycystic Ovary Syndrome and Periodontitis: Insights From a Mendelian Randomization Analysis. PMID:33868379
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. PMID:33864768
Symptom-level modelling unravels the shared genetic architecture of anxiety and depression. PMID:33859377
Multi-omic profiling of pituitary thyrotropic cells and progenitors. PMID:33858413
Genomic insights into population history and biological adaptation in Oceania. PMID:33854233
Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases. PMID:33848288
Artificial intelligence to deep learning: machine intelligence approach for drug discovery. PMID:33844136
Secondary analysis of transcriptomes of SARS-CoV-2 infection models to characterize COVID-19. PMID:33842903
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders. PMID:33841501
Functional annotation of lung cancer‒associated genetic variants by cell type‒specific epigenome and long-range chromatin interactome. PMID:33840167
DNA methylation and gene expression integration in cardiovascular disease. PMID:33836805
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes. PMID:33836063
Functional annotation of lncRNA in high-throughput screening. PMID:33835127
Whole genome variation in 27 Mexican indigenous populations, demographic and biomedical insights. PMID:33831079
Machine and Deep Learning in Molecular and Genetic Aspects of Sleep Research. PMID:33829409
Genome-wide enhancer maps link risk variants to disease genes. PMID:33828297
Genetic substructure and complex demographic history of South African Bantu speakers. PMID:33828095
Network bioinformatics analysis provides insight into drug repurposing for COVID-19. PMID:33817623
Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review. PMID:33815092
White Blood Cells and Severe COVID-19: A Mendelian Randomization Study. PMID:33809027
Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility. PMID:33806348
Identification of Transcriptomic Differences between Lower Extremities Arterial Disease, Abdominal Aortic Aneurysm and Chronic Venous Disease in Peripheral Blood Mononuclear Cells Specimens. PMID:33801150
Association of structural variation with cardiometabolic traits in Finns. PMID:33798444
A catalog of GWAS fine-mapping efforts in autoimmune disease. PMID:33798443
Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development. PMID:33797837
Human OMICs and Computational Biology Research in Africa: Current Challenges and Prospects. PMID:33794662
Sclerostin Downregulation Globally by Naturally Occurring Genetic Variants, or Locally in Atherosclerotic Plaques, Does Not Associate With Cardiovascular Events in Humans. PMID:33784435
Genetic Risk Stratification: A Paradigm Shift in Prevention of Coronary Artery Disease. PMID:33778213
Precision Population Medicine in Primary Care: The Sanford Chip Experience. PMID:33777099
Physical activity, sedentary behavior and risk of coronary artery disease, myocardial infarction and ischemic stroke: a two-sample Mendelian randomization study. PMID:33774696
The Shared Genetic Architectures Between Lung Cancer and Multiple Polygenic Phenotypes in Genome-Wide Association Studies. PMID:33771847
A transcription-centric model of SNP-age interaction. PMID:33770080
Genome-wide association study of fish oil supplementation on lipid traits in 81,246 individuals reveals new gene-diet interaction loci. PMID:33760818
Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus. PMID:33753534
Common genetic polymorphisms contribute to the association between chronic lymphocytic leukaemia and non-melanoma skin cancer. PMID:33748835
CRISPRi screens reveal a DNA methylation-mediated 3D genome dependent causal mechanism in prostate cancer. PMID:33741908
Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability. PMID:33741065
Boosting GWAS using biological networks: A study on susceptibility to familial breast cancer. PMID:33735170
Evolutionary forces in diabetes and hypertension pathogenesis in Africans. PMID:33734377
LocusZoom.js: Interactive and embeddable visualization of genetic association study results. PMID:33734315
Towards realizing the vision of precision medicine: AI based prediction of clinical drug response. PMID:33734308
A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank. PMID:33730541
Genetic Analysis of ZNF Protein Family Members for Early-Onset Parkinson's Disease in Chinese Population. PMID:33723766
Genetics of osteoarthritis. PMID:33722698
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes. PMID:33719213
Comprehensive Integration of Genome-Wide Association and Gene Expression Studies Reveals Novel Gene Signatures and Potential Therapeutic Targets for Helicobacter pylori-Induced Gastric Disease. PMID:33717131
The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm. PMID:33713133
GWAS findings improved genomic prediction accuracy of lipid profile traits: Tehran Cardiometabolic Genetic Study. PMID:33707626
Fate or coincidence: do COPD and major depression share genetic risk factors? PMID:33704461
Improving reporting standards for polygenic scores in risk prediction studies. PMID:33692554
Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation. PMID:33691767
Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS. PMID:33686288
Genetic variation and microRNA targeting of A-to-I RNA editing fine tune human tissue transcriptomes. PMID:33685485
Variation in VKORC1 Is Associated with Vascular Dementia. PMID:33682710
Expanding the drug discovery space with predicted metabolite-target interactions. PMID:33674782
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. PMID:33664507
Quantifying genetic heterogeneity between continental populations for human height and body mass index. PMID:33664403
Rheumatoid arthritis decreases risk for Parkinson's disease: a Mendelian randomization study. PMID:33654087
From Genome-Wide to Environment-Wide: Capturing the Environome. PMID:33645332
Genetics of Behçet's Disease: Functional Genetic Analysis and Estimating Disease Heritability. PMID:33644100
Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease. PMID:33637690
Causal relationship between the timing of menarche and young adult body mass index with consideration to a trend of consistently decreasing age at menarche. PMID:33635908
A genome-wide association and polygenic risk score study on abnormal electrocardiogram in a Chinese population. PMID:33633301
Integrated analysis of behavioral, epigenetic, and gut microbiome analyses in AppNL-G-F, AppNL-F, and wild type mice. PMID:33633159
Haplotype-resolved diverse human genomes and integrated analysis of structural variation. PMID:33632895
Transcriptome-wide association study identifies multiple genes associated with childhood body mass index. PMID:33627773
Multimodal single-cell/nucleus RNA sequencing data analysis uncovers molecular networks between disease-associated microglia and astrocytes with implications for drug repurposing in Alzheimer's disease. PMID:33627474
Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease. PMID:33626337
Evolution, structure and emerging roles of C1ORF112 in DNA replication, DNA damage responses, and cancer. PMID:33625522
Genetic Associations with Weight Gain among South Africans who Initiated Dolutegravir-Containing and Tenofovir-Containing Regimens. PMID:33625064
PICS2: Next-generation fine mapping via probabilistic identification of causal SNPs. PMID:33624747
Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma. PMID:33622343
Bending the Curve in Cardiovascular Disease Mortality: Bethesda + 40 and Beyond. PMID:33617315
Distinct amyloid-β and tau-associated microglia profiles in Alzheimer's disease. PMID:33609158
Trans-ethnic meta-analysis identifies new loci associated with longitudinal blood pressure traits. PMID:33603002
Salt-inducible kinases are required for the IL-33-dependent secretion of cytokines and chemokines in mast cells. PMID:33600797
The nasal microbiome, nasal transcriptome, and pet sensitization. PMID:33592204
Genome-wide analysis suggests the importance of vascular processes and neuroinflammation in late-life antidepressant response. PMID:33589590
Common Denominators in the Immunobiology of IgG4 Autoimmune Diseases: What Do Glomerulonephritis, Pemphigus Vulgaris, Myasthenia Gravis, Thrombotic Thrombocytopenic Purpura and Autoimmune Encephalitis Have in Common? PMID:33584677
CellWalker integrates single-cell and bulk data to resolve regulatory elements across cell types in complex tissues. PMID:33583425
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. PMID:33574239
A role of PIEZO1 in iron metabolism in mice and humans. PMID:33571427
The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians. PMID:33571193
Multiomics uncovers developing immunological lineages in human. PMID:33569778
The broken promise that undermines human genome research. PMID:33568833
Integrative analysis identifies bHLH transcription factors as contributors to Parkinson's disease risk mechanisms. PMID:33568722
Germline genetic contribution to the immune landscape of cancer. PMID:33567262
The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives. PMID:33560669
Genome-wide fine-mapping identifies pleiotropic and functional variants that predict many traits across global cattle populations. PMID:33558518
Dynamic effects of genetic variation on gene expression revealed following hypoxic stress in cardiomyocytes. PMID:33554857
The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis. PMID:33547282
Identification of Novel Population-Specific Cell Subsets in Chinese Ulcerative Colitis Patients Using Single-Cell RNA Sequencing. PMID:33545427
Multi-trait association studies discover pleiotropic loci between Alzheimer's disease and cardiometabolic traits. PMID:33541420
Identification and Clinical Associations of 3 Forms of Circulating T-cadherin in Human Serum. PMID:33539522
Regulatory genomic circuitry of human disease loci by integrative epigenomics. PMID:33536621
CD38 is associated with bonding-relevant cognitions and relationship satisfaction over the first 3 years of marriage. PMID:33536489
Systematic analysis of purified astrocytes after SCI unveils Zeb2os function during astrogliosis. PMID:33535036
PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes. PMID:33526789
A gene-level methylome-wide association analysis identifies novel Alzheimer's disease genes. PMID:33523132
A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer. PMID:33517887
Assessment of causal effects of physical activity on neurodegenerative diseases: A Mendelian randomization study. PMID:33515719
The molecular pathology of pathogenic mitochondrial tRNA variants. PMID:33513266
Elucidation of the Genomic-Epigenomic Interaction Landscape of Aggressive Prostate Cancer. PMID:33511206
Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. PMID:33510174
Systematic analysis of binding of transcription factors to noncoding variants. PMID:33505025
Interaction of tobacco chewing and smoking habit with interleukin 6 promoter polymorphism in oral precancerous lesions and oral cancer. PMID:33501560
8q24.21 Locus: A Paradigm to Link Non-Coding RNAs, Genome Polymorphisms and Cancer. PMID:33499210
Interaction of tobacco chewing and smoking habit with interleukin 6 promoter polymorphism in oral precancerous lesions and oral cancer. PMID:33501560
8q24.21 Locus: A Paradigm to Link Non-Coding RNAs, Genome Polymorphisms and Cancer. PMID:33499210
Conserved regulatory logic at accessible and inaccessible chromatin during the acute inflammatory response in mammals. PMID:33495464
Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders. PMID:33479212
SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expression. PMID:33476087
Review on Databases and Bioinformatic Approaches on Pharmacogenomics of Adverse Drug Reactions. PMID:33469342
Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines. PMID:33468057
Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect. PMID:33465068
Genetics of 35 blood and urine biomarkers in the UK Biobank. PMID:33462484
Allele-specific alternative splicing and its functional genetic variants in human tissues. PMID:33452016
Patterns of de novo tandem repeat mutations and their role in autism. PMID:33442040
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection. PMID:33441574
The variant call format provides efficient and robust storage of GWAS summary statistics. PMID:33441155
AlzGPS: a genome-wide positioning systems platform to catalyze multi-omics for Alzheimer's drug discovery. PMID:33441136
Complementary and divergent functions of zebrafish Tango1 and Ctage5 in tissue development and homeostasis. PMID:33439675
Genome diversity in Ukraine. PMID:33438729
Evolutionary genetics of skin pigmentation in African populations. PMID:33438000
Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome. PMID:33437986
Cerebrospinal fluid metabolomics identifies 19 brain-related phenotype associations. PMID:33437055
Associations of Genetic Variants Contributing to Gut Microbiota Composition in Immunoglobin A Nephropathy. PMID:33436510
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia. PMID:33432196
Lifestyle Intervention in Pregnant Women With Obesity Impacts Cord Blood DNA Methylation, Which Associates With Body Composition in the Offspring. PMID:33431374
Novel susceptibility loci identified in a genome-wide association study of type 2 diabetes complications in population of Latvia. PMID:33430853
The immune response and immune evasion characteristics in SARS-CoV, MERS-CoV, and SARS-CoV-2: Vaccine design strategies. PMID:33429331
The case for open science: rare diseases. PMID:33426479
Comprehensive Review of Steroid-Sensitive Nephrotic Syndrome Genetic Risk Loci and Transcriptional Regulation as a Possible Mechanistic Link to Disease Risk. PMID:33426398
Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women. PMID:33423677
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis. PMID:33421400
scReQTL: an approach to correlate SNVs to gene expression from individual scRNA-seq datasets. PMID:33419390
Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population. PMID:33413375
Spontaneous intermuscular hematoma in a patient receiving ticagrelor and aspirin: A case report. PMID:33408862
Identification of epigenome-wide DNA methylation differences between carriers of APOE ε4 and APOE ε2 alleles. PMID:33397400
Meta-Analysis of Differentially Expressed Genes in the Substantia Nigra in Parkinson's Disease Supports Phenotype-Specific Transcriptome Changes. PMID:33390883
Apremilast Pharmacogenomics in Russian Patients with Moderate-to-Severe and Severe Psoriasis. PMID:33383665
Proteomic Signatures of Lifestyle Risk Factors for Cardiovascular Disease: A Cross-Sectional Analysis of the Plasma Proteome in the Framingham Heart Study. PMID:33372532
Multi-tissue transcriptome-wide association studies. PMID:33369784
Dosage-sensitive molecular mechanisms are associated with the tissue-specificity of traits and diseases. PMID:33363699
Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism. PMID:33362545
Multivariate genome-wide analysis of education, socioeconomic status and brain phenome. PMID:33349686
Improved Detection of Potentially Pleiotropic Genes in Coronary Artery Disease and Chronic Kidney Disease Using GWAS Summary Statistics. PMID:33343632
Cell Type-Specific Annotation and Fine Mapping of Variants Associated With Brain Disorders. PMID:33343624
The Autism Palette: Combinations of Impairments Explain the Heterogeneity in ASD. PMID:33343403
Systematic evaluation of the effects of genetic variants on PIWI-interacting RNA expression across 33 cancer types. PMID:33330918
Multiple-Tissue Integrative Transcriptome-Wide Association Studies Discovered New Genes Associated With Amyotrophic Lateral Sclerosis. PMID:33329728
Genetic architecture of host proteins involved in SARS-CoV-2 infection. PMID:33328453
Combined change of behavioral traits for domestication and gene-networks in mice selectively bred for active tameness. PMID:33314580
Population-Matched Transcriptome Prediction Increases TWAS Discovery and Replication Rate. PMID:33313492
Urinary metabolic phenotyping for Alzheimer's disease. PMID:33303834
Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility. PMID:33298875
A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer. PMID:33290408
Insights into the genetic architecture of the human face. PMID:33288918
Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease. PMID:33288751
Genetic Variants Associated with Therapy-Related Cardiomyopathy among Childhood Cancer Survivors of African Ancestry. PMID:33288658
Urinary metabolite quantitative trait loci in children and their interaction with dietary factors. PMID:33283231
Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks. PMID:33279681
Characterizing the effect of background selection on the polygenicity of brain-related traits. PMID:33278486
Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus. PMID:33272962
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements. PMID:33257898
Single-cell lineage analysis reveals extensive multimodal transcriptional control during directed beta-cell differentiation. PMID:33257854
Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations. PMID:33257650
PheLiGe: an interactive database of billions of human genotype-phenotype associations. PMID:33245779
3DIV update for 2021: a comprehensive resource of 3D genome and 3D cancer genome. PMID:33245777
The European Bioinformatics Institute: empowering cooperation in response to a global health crisis. PMID:33245775
Genetic feature engineering enables characterisation of shared risk factors in immune-mediated diseases. PMID:33239102
Population-scale study of eRNA transcription reveals bipartite functional enhancer architecture. PMID:33235186
COVID-19 research risks ignoring important host genes due to pre-established research patterns. PMID:33231169
Polygenic Risk Score of Longevity Predicts Longer Survival Across an Age Continuum. PMID:33216869
No association between SCN9A and monogenic human epilepsy disorders. PMID:33216760
CSEA-DB: an omnibus for human complex trait and cell type associations. PMID:33211888
Prioritizing long range interactions in noncoding regions using GWAS and deletions perturbed TADs. PMID:33209206
A molecular cell atlas of the human lung from single-cell RNA sequencing. PMID:33208946
Data integration for prediction of weight loss in randomized controlled dietary trials. PMID:33208769
DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier. PMID:33206638
Genetic Determinants of Antibody-Mediated Immune Responses to Infectious Diseases Agents: A Genome-Wide and HLA Association Study. PMID:33204752
Role of Non-Coding Variants in Brugada Syndrome. PMID:33202810
Improving target assessment in biomedical research: the GOT-IT recommendations. PMID:33199880
DNA methylation signature in blood mirrors successful weight-loss during lifestyle interventions: the CENTRAL trial. PMID:33198820
Breast cancer risk factors and their effects on survival: a Mendelian randomisation study. PMID:33198768
Open Targets Platform: supporting systematic drug-target identification and prioritisation. PMID:33196847
Insertion variants missing in the human reference genome are widespread among human populations. PMID:33187521
A human cell atlas of fetal chromatin accessibility. PMID:33184180
jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population. PMID:33179747
A reference map of potential determinants for the human serum metabolome. PMID:33177712
LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks. PMID:33175840
Genome Variation Map: a worldwide collection of genome variations across multiple species. PMID:33170268
Causal Inference between Rheumatoid Arthritis and Breast Cancer in East Asian and European Population: A Two-Sample Mendelian Randomization. PMID:33167385
TCRD and Pharos 2021: mining the human proteome for disease biology. PMID:33156327
Screening for functional transcriptional and splicing regulatory variants with GenIE. PMID:33152068
Long-range chromatin interactions in pathogenic gene expression control. PMID:33151112
Cognitive disorders associated with hospitalization of COVID-19: Results from an observational cohort study. PMID:33148439
Genotype-Based Gene Expression in Colon Tissue-Prediction Accuracy and Relationship with the Prognosis of Colorectal Cancer Patients. PMID:33142733
Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain. PMID:33139705
Hybrid of Restricted and Penalized Maximum Likelihood Method for Efficient Genome-Wide Association Study. PMID:33138126
The Y Chromosome: A Complex Locus for Genetic Analyses of Complex Human Traits. PMID:33137877
An integrative multi-omics network-based approach identifies key regulators for breast cancer. PMID:33133424
Pleiotropy and Cross-Disorder Genetics Among Psychiatric Disorders. PMID:33131714
Identification of Disease-Associated Variants by Targeted Gene Panel Resequencing in Parkinson's Disease. PMID:33117265
Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma. PMID:33115534
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease. PMID:33110245
A systems genomics approach to uncover the molecular properties of cancer genes. PMID:33110144
Preclinical validation of therapeutic targets predicted by tensor factorization on heterogeneous graphs. PMID:33106501
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension. PMID:33105808
Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling. PMID:33104735
VARAdb: a comprehensive variation annotation database for human. PMID:33095866
Learning gene networks underlying clinical phenotypes using SNP perturbation. PMID:33095769
Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry. PMID:33090224
Pharmacogenomics Biomarker Discovery and Validation for Translation in Clinical Practice. PMID:33089968
The COVID-19 Pandemic from a Human Genetic Perspective. PMID:33084340
The support of genetic evidence for cardiovascular risk induced by antineoplastic drugs. PMID:33055159
Integrative genomics analysis identifies promising SNPs and genes implicated in tuberculosis risk based on multiple omics datasets. PMID:33051402
Environmental Epigenetics of Diesel Particulate Matter Toxicogenomics. PMID:33050454
Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration. PMID:33050425
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. PMID:33045747
Of Pea Plants and Platelets. PMID:33031027
SC2disease: a manually curated database of single-cell transcriptome for human diseases. PMID:33010177
RMDisease: a database of genetic variants that affect RNA modifications, with implications for epitranscriptome pathogenesis. PMID:33010174
A Global Map of G Protein Signaling Regulation by RGS Proteins. PMID:33007266
Exploring the genetic relationship between hearing impairment and Alzheimer's disease. PMID:33005726
ALDH2 genotype modulates the association between alcohol consumption and AST/ALT ratio among middle-aged Japanese men: a genome-wide G × E interaction analysis. PMID:33004991
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. PMID:32991828
miRNASNP-v3: a comprehensive database for SNPs and disease-related variations in miRNAs and miRNA targets. PMID:32990748
Integrative genomic analysis in African American children with asthma finds three novel loci associated with lung function. PMID:32989782
PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records. PMID:32974638
Sex differences in human adipose tissue gene expression and genetic regulation involve adipogenesis. PMID:32967914
Epigenome-wide analysis identifies genes and pathways linked to acoustic cry variation in preterm infants. PMID:32967004
Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women. PMID:32966694
Whole genome analysis of water buffalo and global cattle breeds highlights convergent signatures of domestication. PMID:32958756
An integrated personal and population-based Egyptian genome reference. PMID:32948767
A shared genetic contribution to breast cancer and schizophrenia. PMID:32934226
Deciphering the Plasma Proteome of Type 2 Diabetes. PMID:32928870
Variation in genes implicated in B-cell development and antibody production affects susceptibility to pemphigus. PMID:32926429
Data-Driven Modeling of Knowledge Assemblies in Understanding Comorbidity Between Type 2 Diabetes Mellitus and Alzheimer's Disease. PMID:32925069
Multiple independent mechanisms link gene polymorphisms in the region of ZEB2 with risk of coronary artery disease. PMID:32919281
Dutch population structure across space, time and GWAS design. PMID:32917883
Meningeal lymphatic dysfunction exacerbates traumatic brain injury pathogenesis. PMID:32913280
The GTEx Consortium atlas of genetic regulatory effects across human tissues. PMID:32913098
Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx. PMID:32912333
Current State of Evidence: Influence of Nutritional and Nutrigenetic Factors on Immunity in the COVID-19 Pandemic Framework. PMID:32911778
Insights into glucocorticoid responses derived from omics studies. PMID:32910934
Breast Cancer Risk Prediction in Korean Women: Review and Perspectives on Personalized Breast Cancer Screening. PMID:32908785
Integrative Analysis Revealing Human Heart-Specific Genes and Consolidating Heart-Related Phenotypes. PMID:32903789
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population. PMID:32902719
Methylome-wide association study of central adiposity implicates genes involved in immune and endocrine systems. PMID:32901515
Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations. PMID:32899814
Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits. PMID:32895400
The Polygenic and Monogenic Basis of Blood Traits and Diseases. PMID:32888494
Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction. PMID:32887874
Co-expression analysis reveals interpretable gene modules controlled by trans-acting genetic variants. PMID:32880574
A mega-analysis of expression quantitative trait loci in retinal tissue. PMID:32870927
Genome-wide pathogenesis interpretation using a heat diffusion-based systems genetics method and implications for gene function annotation. PMID:32869547
The Parkinson's Disease Genome-Wide Association Study Locus Browser. PMID:32864809
Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review. PMID:32858798
Association of blood pressure with cognitive function at midlife: a Mendelian randomization study. PMID:32847530
APOE and TREM2 regulate amyloid-responsive microglia in Alzheimer's disease. PMID:32840654
A general framework for functionally informed set-based analysis: Application to a large-scale colorectal cancer study. PMID:32833970
Views on GWAS statistical analysis. PMID:32831520
Gene Expression and RNA Splicing Imputation Identifies Novel Candidate Genes Associated with Osteoporosis. PMID:32827035
Large-Scale Analyses Provide No Evidence for Gene-Gene Interactions Influencing Type 2 Diabetes Risk. PMID:32826294
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data. PMID:32824926
m6A-Atlas: a comprehensive knowledgebase for unraveling the N6-methyladenosine (m6A) epitranscriptome. PMID:32821938
Multiomic blood correlates of genetic risk identify presymptomatic disease alterations. PMID:32817414
Epigenetic Changes in Islets of Langerhans Preceding the Onset of Diabetes. PMID:32816961
Habitual Coffee and Tea Consumption and Cardiometabolic Biomarkers in the UK Biobank: The Role of Beverage Types and Genetic Variation. PMID:32805014
GEN2VCF: a converter for human genome imputation output format to VCF format. PMID:32803703
A Regularization-Based Adaptive Test for High-Dimensional Generalized Linear Models. PMID:32802002
Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities. PMID:32796930
Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways. PMID:32795586
Body weight and high-fat diet are associated with epigenetic aging in female members of the BXD murine family. PMID:32790008
Epigenome-wide analyses identify DNA methylation signatures of dementia risk. PMID:32789163
Epigenetic Vulnerability of Insulator CTCF Motifs at Parkinson's Disease-Associated Genes in Response to Neurotoxicant Rotenone. PMID:32774342
Alternative Applications of Genotyping Array Data Using Multivariant Methods. PMID:32773169
Population-scale proteome variation in human induced pluripotent stem cells. PMID:32773033
Evidence of Clonal Hematopoiesis and Risk of Heart Failure. PMID:32772279
Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint. PMID:32770057
Predictive features of gene expression variation reveal mechanistic link with differential expression. PMID:32767663
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality. PMID:32758451
The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation. PMID:32753748
Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants. PMID:32753378
Single-cell atlas of colonic CD8+ T cells in ulcerative colitis. PMID:32747828
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism. PMID:32747698
A human-specific VNTR in the TRIB3 promoter causes gene expression variation between individuals. PMID:32745133
Genetic risk factors of ME/CFS: a critical review. PMID:32744306
DNA Methylation Clocks and Their Predictive Capacity for Aging Phenotypes and Healthspan. PMID:32743556
Global reference mapping of human transcription factor footprints. PMID:32728250
Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer. PMID:32724790
SeXX Matters in Multiple Sclerosis. PMID:32719651
Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores. PMID:32714365
Cancer Risk Studies and Priority Areas for Cancer Risk Appraisal in Uganda. PMID:32704483
Cytokine-induced molecular responses in airway smooth muscle cells inform genome-wide association studies of asthma. PMID:32690065
Causal graphs for the analysis of genetic cohort data. PMID:32687429
uKIN Combines New and Prior Information with Guided Network Propagation to Accurately Identify Disease Genes. PMID:32684276
The Phenotypic Consequences of Genetic Divergence between Admixed Latin American Populations: Antioquia and Chocó, Colombia. PMID:32681795
Tumor somatic mutations also existing as germline polymorphisms may help to identify functional SNPs from genome-wide association studies. PMID:32681635
Constant-severe pain in chronic pancreatitis is associated with genetic loci for major depression in the NAPS2 cohort. PMID:32681239
Physical activity and risk of Alzheimer disease: A 2-sample mendelian randomization study. PMID:32680943
Protein-Protein interactions uncover candidate 'core genes' within omnigenic disease networks. PMID:32678846
Validation of genome-wide associated variants for Kawasaki disease in a Taiwanese case-control sample. PMID:32678208
Multivariate genomic scan implicates novel loci and haem metabolism in human ageing. PMID:32678081
Transcriptomic Analysis Reveals Receptor Subclass-Specific Immune Regulation of CD8+ T Cells by Opioids. PMID:32675085
Bioinformatics approaches for deciphering the epitranscriptome: Recent progress and emerging topics. PMID:32670500
PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins. PMID:32665031
Genomic mechanisms in Alzheimer's disease. PMID:32657454
Detecting fitness epistasis in recently admixed populations with genome-wide data. PMID:32652930
From human genome epidemiology to systems epidemiology: current progress and future perspective. PMID:32648851
LDtrait: An Online Tool for Identifying Published Phenotype Associations in Linkage Disequilibrium. PMID:32606005
Meeting Report: 68th Montagna Symposium on the Biology of Skin "Decoding Complex Skin Diseases: Integrating Genetics, Genomics, and Disease Biology". PMID:32603751
The contribution of non-coding regulatory elements to cardiovascular disease. PMID:32603637
Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes. PMID:32600345
Targeted RNA sequencing enhances gene expression profiling of ultra-low input samples. PMID:32597303
Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs. PMID:32594908
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
Regional Variation of Splicing QTLs in Human Brain. PMID:32589925
Ancestry effects on type 2 diabetes genetic risk inference in Hispanic/Latino populations. PMID:32580712
Association of KLK3, VAMP8 and MDM4 Genetic Variants within microRNA Binding Sites with Prostate Cancer: Evidence from Serbian Population. PMID:32556890
Cell Atlas of The Human Fovea and Peripheral Retina. PMID:32555229
A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents. PMID:32554749
A multi-omic analysis of birthweight in newborn cord blood reveals new underlying mechanisms related to cholesterol metabolism. PMID:32553738
Multi-trait Genome-Wide Analyses of the Brain Imaging Phenotypes in UK Biobank. PMID:32540950
In The Blood: Connecting Variant to Function In Human Hematopoiesis. PMID:32534791
Genetic control of non-genetic inheritance in mammals: state-of-the-art and perspectives. PMID:32529318
Heterogeneity and Polygenicity in Psychiatric Disorders: A Genome-Wide Perspective. PMID:32518889
Molecular mechanisms of coronary disease revealed using quantitative trait loci for TCF21 binding, chromatin accessibility, and chromosomal looping. PMID:32513244
Genetic landscape of external auditory canal squamous cell carcinoma. PMID:32500594
MetaPhat: Detecting and Decomposing Multivariate Associations From Univariate Genome-Wide Association Statistics. PMID:32499813
Systems Genetics for Mechanistic Discovery in Heart Diseases. PMID:32496909
Transcriptomic stratification of late-onset Alzheimer's cases reveals novel genetic modifiers of disease pathology. PMID:32492070
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology. PMID:32484228
Silencing of CCR4-NOT complex subunits affects heart structure and function. PMID:32471864
Genome-wide analysis of carotid plaque burden suggests a role of IL5 in men. PMID:32469969
Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia. PMID:32467347
A structural variation reference for medical and population genetics. PMID:32461652
Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits. PMID:32442411
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. PMID:32439900
Multitissue Multiomics Systems Biology to Dissect Complex Diseases. PMID:32439301
Genetics Insights in the Relationship Between Type 2 Diabetes and Coronary Heart Disease. PMID:32437307
Genome-wide association studies of cardiac electrical phenotypes. PMID:32428210
Progress, Challenges, and Surprises in Annotating the Human Genome. PMID:32421357
AnnoLnc2: the one-stop portal to systematically annotate novel lncRNAs for human and mouse. PMID:32406920
Untangling the immune basis of disease susceptibility. PMID:32406819
A Data-Driven Review of the Genetic Factors of Pregnancy Complications. PMID:32403311
Using Chronobiological Phenotypes to Address Heterogeneity in Bipolar Disorder. PMID:32399471
Using genetics for social science. PMID:32393836
Quantifying the Predictive Accuracy of a Polygenic Risk Score for Predicting Incident Cancer Cases : Application to the CARTaGENE Cohort. PMID:32391062
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. PMID:32386547
Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucose. PMID:32379818
The Integrated Landscape of Biological Candidate Causal Genes in Coronary Artery Disease. PMID:32373157
A big-data approach to understanding metabolic rate and response to obesity in laboratory mice. PMID:32356724
Polymorphisms in miRNA binding sites involved in metabolic diseases in mice and humans. PMID:32350386
Cell atlas of aqueous humor outflow pathways in eyes of humans and four model species provides insight into glaucoma pathogenesis. PMID:32341164
An Integrative Phenotype-Genotype Approach Using Phenotypic Characteristics from the UAE National Diabetes Study Identifies HSD17B12 as a Candidate Gene for Obesity and Type 2 Diabetes. PMID:32340285
SparkINFERNO: a scalable high-throughput pipeline for inferring molecular mechanisms of non-coding genetic variants. PMID:32330239
Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand KITLG/SCF and Gene-By-Air-Pollution Interaction. PMID:32327564
Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway. PMID:32313116
Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses. PMID:32310995
Modern human changes in regulatory regions implicated in cortical development. PMID:32299352
Zebrafish models of sarcopenia. PMID:32298234
Serum Uric Acid Level and Multiple Sclerosis: A Mendelian Randomization Study. PMID:32292418
Improving the coverage of credible sets in Bayesian genetic fine-mapping. PMID:32282791
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases. PMID:32275883
Network Systems Pharmacology-Based Mechanism Study on the Beneficial Effects of Vitamin D against Psychosis in Alzheimer's Disease. PMID:32273551
Mucosal Microbiome Profiles Polygenic Irritable Bowel Syndrome in Mestizo Individuals. PMID:32266159
Sibling history is associated with heart failure after a first myocardial infarction. PMID:32257244
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. PMID:32251286
Cell Type-Specific Intralocus Interactions Reveal Oligodendrocyte Mechanisms in MS. PMID:32246942
The polymorphism rs975484 in the protein arginine methyltransferase 1 gene modulates expression of immune checkpoint genes in hepatocellular carcinoma. PMID:32245889
Ancestry deconvolution and partial polygenic score can improve susceptibility predictions in recently admixed individuals. PMID:32242022
Comprehensive functional annotation of susceptibility variants associated with asthma. PMID:32240371
Genetic predisposition for increased red blood cell distribution width is an early risk factor for cardiovascular and renal comorbidities. PMID:32238420
Global expression and CpG methylation analysis of primary endothelial cells before and after TNFa stimulation reveals gene modules enriched in inflammatory and infectious diseases and associated DMRs. PMID:32231389
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia. PMID:32231278
Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations. PMID:32193382
Fibrate pharmacogenomics: expanding past the genome. PMID:32180510
Selected neuropeptide genes show genetic differentiation between Africans and non-Africans. PMID:32171244
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility. PMID:32170005
Assessment Causality in Associations Between Serum Uric Acid and Risk of Schizophrenia: A Two-Sample Bidirectional Mendelian Randomization Study. PMID:32161502
Monocarboxylate Transporters (SLC16): Function, Regulation, and Role in Health and Disease. PMID:32144120
Germline Features Associated with Immune Infiltration in Solid Tumors. PMID:32130895
Supervised learning is an accurate method for network-based gene classification. PMID:32129827
Dnmt3a and Dnmt3b-Decommissioned Fetal Enhancers are Linked to Kidney Disease. PMID:32127410
Effect direction meta-analysis of GWAS identifies extreme, prevalent and shared pleiotropy in a large mammal. PMID:32111961
Common transcriptional signatures of neuropathic pain. PMID:32107361
Benchmarking bacterial genome-wide association study methods using simulated genomes and phenotypes. PMID:32100713
Direct-to-Consumer Nutrigenetics Testing: An Overview. PMID:32098227
Brief Report: Genetic Links Between Autism and Suicidal Behavior-A Preliminary Investigation. PMID:32096122
Disentangling the genetics of sarcopenia: prioritization of NUDT3 and KLF5 as genes for lean mass & HLA-DQB1-AS1 for hand grip strength with the associated enhancing SNPs & a scoring system. PMID:32093658
Is useful research data usually shared? An investigation of genome-wide association study summary statistics. PMID:32084240
Recounting the FANTOM CAGE-Associated Transcriptome. PMID:32079618
FTO Variant rs1421085 Associates With Increased Body Weight, Soft Lean Mass, and Total Body Water Through Interaction With Ghrelin and Apolipoproteins in Arab Population. PMID:32076432
Finding all maximal perfect haplotype blocks in linear time. PMID:32055252
Precision Medicine in Non-Communicable Diseases. PMID:32046063
Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. PMID:32041960
Focus on Causality in ESC/iPSC-Based Modeling of Psychiatric Disorders. PMID:32033412
BetaScan2: Standardized Statistics to Detect Balancing Selection Utilizing Substitution Data. PMID:32011695
JASS: command line and web interface for the joint analysis of GWAS results. PMID:32002517
Genetic architecture study of rheumatoid arthritis and juvenile idiopathic arthritis. PMID:31988799
Osteoporosis- and obesity-risk interrelationships: an epigenetic analysis of GWAS-derived SNPs at the developmental gene TBX15. PMID:31975641
Genetic Variation and Response to Neurocritical Illness: a Powerful Approach to Identify Novel Pathophysiological Mechanisms and Therapeutic Targets. PMID:31975153
The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change. PMID:31969989
Delineating significant genome-wide associations of variants with antipsychotic and antidepressant treatment response: implications for clinical pharmacogenomics. PMID:31941550
A brief history of human disease genetics. PMID:31915397
A Mendelian Randomization Study Provides Evidence That Adiposity and Dyslipidemia Lead to Lower Urinary Albumin-to-Creatinine Ratio, a Marker of Microvascular Function. PMID:31915152
Mechanisms of tissue and cell-type specificity in heritable traits and diseases. PMID:31913361
Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the 126K East Asians. PMID:31896248
Pure additive contribution of genetic variants to a risk prediction model using propensity score matching: application to type 2 diabetes. PMID:31896247
Antagonistic Pleiotropy in Human Disease. PMID:31863128
Comprehensive epigenome characterization reveals diverse transcriptional regulation across human vascular endothelial cells. PMID:31856914
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. PMID:31848685
IFNL4: Notable variants and associated phenotypes. PMID:31846709
Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children. PMID:31841498
SNPs identified by GWAS affect asthma risk through DNA methylation and expression of cis-genes in airway epithelium. PMID:31831581
Co-incidence of RCC-susceptibility polymorphisms with HIF cis-acting sequences supports a pathway tuning model of cancer. PMID:31822727
Mapping the Germline and Somatic Mutation Interaction Landscape in Indolent and Aggressive Prostate Cancers. PMID:31814827
Advances in genetics toward identifying pathogenic cell states of rheumatoid arthritis. PMID:31782165
Common DNA sequence variation influences 3-dimensional conformation of the human genome. PMID:31779666
Global Analysis of Enhancer Targets Reveals Convergent Enhancer-Driven Regulatory Modules. PMID:31775028
An omics perspective on drug target discovery platforms. PMID:31774113
A resource-efficient tool for mixed model association analysis of large-scale data. PMID:31768069
A single-cell atlas of entorhinal cortex from individuals with Alzheimer's disease reveals cell-type-specific gene expression regulation. PMID:31768052
Genetic Risk Scores. PMID:31765077
Making the Most of Clumping and Thresholding for Polygenic Scores. PMID:31761295
Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population. PMID:31757997
Telomere Maintenance in Pediatric Cancer. PMID:31757062
A super enhancer controls expression and chromatin architecture within the MHC class II locus. PMID:31753848
Biologically Defined or Biologically Informed Traits Are More Heritable Than Clinically Defined Ones: The Case of Oral and Dental Phenotypes. PMID:31732942
Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis but not with ANCA-associated vasculitis in a Japanese population. PMID:31705128
Comorbidity of asthma and hypertension may be mediated by shared genetic dysregulation and drug side effects. PMID:31705029
Assessment of the Association of D2 Dopamine Receptor Gene and Reported Allele Frequencies With Alcohol Use Disorders: A Systematic Review and Meta-analysis. PMID:31702801
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:31701156
Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity. PMID:31695696
CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies. PMID:31691819
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
The genetics of human ageing. PMID:31690828
Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record. PMID:31684865
Deconvolution of the Genomic and Epigenomic Interaction Landscape of Triple-Negative Breast Cancer. PMID:31683572
TSEA-DB: a trait-tissue association map for human complex traits and diseases. PMID:31680168
The DisGeNET knowledge platform for disease genomics: 2019 update. PMID:31680165
Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits. PMID:31676860
NPInter v4.0: an integrated database of ncRNA interactions. PMID:31670377
Differential metabolic and multi-tissue transcriptomic responses to fructose consumption among genetically diverse mice. PMID:31669422
Association of a functional Claudin-5 variant with schizophrenia in female patients with the 22q11.2 deletion syndrome. PMID:31668493
Large-scale GWAS reveals genetic architecture of brain white matter microstructure and genetic overlap with cognitive and mental health traits (n = 17,706). PMID:31666681
Genome-wide association studies of structural birth defects: A review and commentary. PMID:31654503
Editorial: Long Non-coding RNAs and Immunity. PMID:31649679
Genetic mapping and evolutionary analysis of human-expanded cognitive networks. PMID:31649260
Native adiponectin in serum binds to mammalian cells expressing T-cadherin, but not AdipoRs or calreticulin. PMID:31647413
AraPheno and the AraGWAS Catalog 2020: a major database update including RNA-Seq and knockout mutation data for Arabidopsis thaliana. PMID:31642487
PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation. PMID:31642469
A different view on fine-scale population structure in Western African populations. PMID:31630246
A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio. PMID:31630189
GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies. PMID:31612961
Informing disease modelling with brain-relevant functional genomic annotations. PMID:31603214
A pediatric perspective on genomics and prevention in the twenty-first century. PMID:31578042
Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond. PMID:31575058
Integrating Genome-Wide Association Studies With Pathway Analysis and Gene Expression Analysis Highlights Novel Osteoarthritis Risk Pathways and Genes. PMID:31572443
GWAS Atlas: a curated resource of genome-wide variant-trait associations in plants and animals. PMID:31566222
Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits. PMID:31564431
TASUKE+: a web-based platform for exploring genome-wide association studies results and large-scale resequencing data. PMID:31539030
Genetic Basis of Obesity and Type 2 Diabetes in Africans: Impact on Precision Medicine. PMID:31520154
Investigation of the relationship between IL-6 and type 2 biomarkers in patients with severe asthma. PMID:31513878
regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants. PMID:31511901
Transgenerational Self-Reconstruction of Disrupted Chromatin Organization After Exposure To An Environmental Stressor in Mice. PMID:31506492
Challenges in the construction of knowledge bases for human microbiome-disease associations. PMID:31488215
Interorgan communication by exosomes, adipose tissue, and adiponectin in metabolic syndrome. PMID:31483293
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. PMID:31481752
Dataset of the frequency patterns of publications annotated to human protein-coding genes, their protein products and genetic relevance. PMID:31453287
Development of a general logistic model for disease risk prediction using multiple SNPs. PMID:31423732
Genetic and Environmental Interaction in Type 1 Diabetes: a Relationship Between Genetic Risk Alleles and Molecular Traits of Enterovirus Infection? PMID:31401790
Using the Data We Have: Improving Diversity in Genomic Research. PMID:31374201
Exome sequencing of Finnish isolates enhances rare-variant association power. PMID:31367044
Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes. PMID:31367015
Genome-Wide Association Study of Metabolic Syndrome Reveals Primary Genetic Variants at CETP Locus in Indians. PMID:31366177
Analysis of genetic networks regulating refractive eye development in collaborative cross progenitor strain mice reveals new genes and pathways underlying human myopia. PMID:31362747
Latrophilins: A Neuro-Centric View of an Evolutionary Conserved Adhesion G Protein-Coupled Receptor Subfamily. PMID:31354411
GWEHS: A Genome-Wide Effect Sizes and Heritability Screener. PMID:31344961
Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk. PMID:31336362
Insights into Computational Drug Repurposing for Neurodegenerative Disease. PMID:31326236
Single-Nucleotide Polymorphisms Sequencing Identifies Candidate Functional Variants at Prostate Cancer Risk Loci. PMID:31323811
A Combined Transcriptomic and Genomic Analysis Identifies a Gene Signature Associated With the Response to Anti-TNF Therapy in Rheumatoid Arthritis. PMID:31312201
Genome-wide enriched pathway analysis of acute post-radiotherapy pain in breast cancer patients: a prospective cohort study. PMID:31196165
Missing heritability of complex diseases: case solved? PMID:31165258
Long Noncoding RNA HCP5, a Hybrid HLA Class I Endogenous Retroviral Gene: Structure, Expression, and Disease Associations. PMID:31137555
The role of plasma microseminoprotein-beta in prostate cancer: an observational nested case-control and Mendelian randomization study in the European prospective investigation into cancer and nutrition. PMID:31089709
Tissue-specific sex differences in human gene expression. PMID:31044242
Unraveling the genetic complexity of Alzheimer disease with Mendelian Randomization. PMID:31041395
A multi-omics data simulator for complex disease studies and its application to evaluate multi-omics data analysis methods for disease classification. PMID:31029063
Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine. PMID:30937181
Personalized Medicine and the Power of Electronic Health Records. PMID:30901549
Mendelian randomisation: A powerful and inexpensive method for identifying and excluding non-genetic risk factors for colorectal cancer. PMID:30710596
The 26th annual Nucleic Acids Research database issue and Molecular Biology Database Collection. PMID:30626175
The European Bioinformatics Institute in 2018: tools, infrastructure and training. PMID:30445657 -
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
PubMed citations: 921.
921 articles citing: The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
Evaluating statistical significance in a meta-analysis by using numerical integration. PMID:35860413
Cumulative Evidence for Relationships Between Multiple Variants in the TERT and CLPTM1L Region and Risk of Cancer and Non-Cancer Disease. PMID:35847915
Inter- and intra-chromosomal modulators of the APOE ɛ2 and ɛ4 effects on the Alzheimer's disease risk. PMID:35809216
First genome-wide association study of 99 body measures derived from 3-dimensional body scans. PMID:35782980
mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights. PMID:35736459
A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources. PMID:35713861
Empirical assessment of allele frequencies of genome wide association study variants associated with obstructive sleep apnea. PMID:35702131
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders. PMID:35701404
Genomic architecture and functional effects of potential human inversion supergenes. PMID:35694745
Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India. PMID:35693198
Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases. PMID:35664994
Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD. PMID:35639794
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation. PMID:35618845
Fine-mapping studies distinguish genetic risks for childhood- and adult-onset asthma in the HLA region. PMID:35606880
Using the UK Biobank as a global reference of worldwide populations: application to measuring ancestry diversity from GWAS summary statistics. PMID:35604078
Genetic differentiation in East African ethnicities and its relationship with endurance running success. PMID:35588128
Shared genetic loci between depression and cardiometabolic traits. PMID:35560157
Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases. PMID:35547845
Strengthening Causal Inference in Exposomics Research: Application of Genetic Data and Methods. PMID:35533073
An optimal variant to gene distance window derived from an empirical definition of cis and trans protein QTLs. PMID:35527238
Concurrent outcomes from multiple approaches of epistasis analysis for human body mass index associated loci provide insights into obesity biology. PMID:35508500
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. PMID:35504290
Advances and challenges in quantitative delineation of the genetic architecture of complex traits. PMID:35492964
Genome interpretation using in silico predictors of variant impact. PMID:35488922
Validation of Candidate Sleep Disorder Risk Genes Using Zebrafish. PMID:35465097
Targeting Specific Checkpoints in the Management of SARS-CoV-2 Induced Cytokine Storm. PMID:35454970
AmazonForest: In Silico Metaprediction of Pathogenic Variants. PMID:35453737
16S rRNA and metagenomic shotgun sequencing data revealed consistent patterns of gut microbiome signature in pediatric ulcerative colitis. PMID:35440670
Meta-Analysis of Vitamin D Receptor Gene Polymorphisms in Childhood Asthma. PMID:35433530
Population differentiation of polygenic score predictions under stabilizing selection. PMID:35430887
Evolutionary Trajectories of Complex Traits in European Populations of Modern Humans. PMID:35419030
Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels. PMID:35396452
Relative contributions of sex hormones, sex chromosomes, and gonads to sex differences in tissue gene regulation. PMID:35396276
Exome-wide screening identifies novel rare risk variants for major depression disorder. PMID:35365804
Chromosomal Region 11p14.1 is Associated with Pharmacokinetics and Pharmacodynamics of Bisoprolol. PMID:35356681
Oxytocin receptor expression patterns in the human brain across development. PMID:35347267
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets. PMID:35338153
A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci. PMID:35332097
Alzheimer's Disease Classification Through Imaging Genetic Data With IGnet. PMID:35310099
SMetABF: A rapid algorithm for Bayesian GWAS meta-analysis with a large number of studies included. PMID:35286307
Genotype imputation for soybean nested association mapping population to improve precision of QTL detection. PMID:35275252
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data. PMID:35256806
Cell type-specific mechanism of Setd1a heterozygosity in schizophrenia pathogenesis. PMID:35245111
Proteome-wide Mendelian randomization identifies causal links between blood proteins and severe COVID-19. PMID:35239653
Unlocking the Memory Component of Alzheimer's Disease: Biological Processes and Pathways across Brain Regions. PMID:35204764
Evaluating the detection ability of a range of epistasis detection methods on simulated data for pure and impure epistatic models. PMID:35180244
Gene losses may contribute to subterranean adaptations in naked mole-rat and blind mole-rat. PMID:35172813
Large-scale association study on daily weight gain in pigs reveals overlap of genetic factors for growth in humans. PMID:35168569
Cancer and COVID-19 Susceptibility and Severity: A Two-Sample Mendelian Randomization and Bioinformatic Analysis. PMID:35141230
Single-cell RNA sequencing reveals induction of distinct trained-immunity programs in human monocytes. PMID:35133977
Noncoding genetic variation in GATA3 increases acute lymphoblastic leukemia risk through local and global changes in chromatin conformation. PMID:35115686
Histone acetylome-wide associations in immune cells from individuals with active Mycobacterium tuberculosis infection. PMID:35102304
Functional Deletion/Insertion Promoter Variants in SCARB1 Associated With Increased Susceptibility to Lipid Profile Abnormalities and Coronary Heart Disease. PMID:35097019
Coding and regulatory variants are associated with serum protein levels and disease. PMID:35079000
SNP and Haplotype Regional Heritability Mapping (SNHap-RHM): Joint Mapping of Common and Rare Variation Affecting Complex Traits. PMID:35069690
The Effect of Circulating Zinc, Selenium, Copper and Vitamin K1 on COVID-19 Outcomes: A Mendelian Randomization Study. PMID:35057415
Genetic Regulation of Cytokine Response in Patients with Acute Community-Acquired Pneumonia. PMID:35052452
Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels. PMID:35050183
Systematic analysis of naturally occurring insertions and deletions that alter transcription factor spacing identifies tolerant and sensitive transcription factor pairs. PMID:35049498
Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease. PMID:35047867
Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis. PMID:35013273
Integrating gene expression and clinical data to identify drug repurposing candidates for hyperlipidemia and hypertension. PMID:35013250
Genome-wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores. PMID:34989438
Genome-wide analysis of genetic predisposition to common polygenic cancers. PMID:34981446
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome. PMID:34980918
Mapping of novel loci involved in lung and colon tumor susceptibility by the use of genetically selected mouse strains. PMID:34966170
Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care: Cohort Study of Returning UK Biobank Participants. PMID:34945794
Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries. PMID:34919805
Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases. PMID:34912794
Current HLA Investigations on SARS-CoV-2 and Perspectives. PMID:34912378
TiMEG: an integrative statistical method for partially missing multi-omics data. PMID:34911979
Genetic Polymorphism of Drug Metabolic Gene CYPs, VKORC1, NAT2, DPYD and CHST3 of Five Ethnic Minorities in Heilongjiang Province, Northeast China. PMID:34876832
Systems biology and machine learning approaches identify drug targets in diabetic nephropathy. PMID:34873190
Bringing the Animal QTLdb and CorrDB into the future: meeting new challenges and providing updated services. PMID:34850103
A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens. PMID:34847940
Cardiotoxicity of Antineoplastic Therapies and Applications of Induced Pluripotent Stem Cell-Derived Cardiomyocytes. PMID:34831045
Dietary Fiber Intake May Influence the Impact of FTO Genetic Variants on Obesity Parameters and Lipid Profile-A Cohort Study of a Caucasian Population of Polish Origin. PMID:34829664
HFIP: an integrated multi-omics data and knowledge platform for the precision medicine of heart failure. PMID:34791105
HLA imputation and its application to genetic and molecular fine-mapping of the MHC region in autoimmune diseases. PMID:34786601
Astroglia in Autism Spectrum Disorder. PMID:34768975
Cigarette smoking-associated isoform switching and 3' UTR lengthening via alternative polyadenylation. PMID:34763026
Single-Cell RNA Sequencing in Multiple Pathologic Types of Renal Cell Carcinoma Revealed Novel Potential Tumor-Specific Markers. PMID:34722263
Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations. PMID:34719381
Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis. PMID:34706928
Recent innovations and in-depth aspects of post-genome wide association study (Post-GWAS) to understand the genetic basis of complex phenotypes. PMID:34689168
PopHumanVar: an interactive application for the functional characterization and prioritization of adaptive genomic variants in humans. PMID:34664660
Deep post-GWAS analysis identifies potential risk genes and risk variants for Alzheimer's disease, providing new insights into its disease mechanisms. PMID:34654853
TIGER: The gene expression regulatory variation landscape of human pancreatic islets. PMID:34644572
The genetic impact of an Ebola outbreak on a wild gorilla population. PMID:34635054
Detecting Selection in Multiple Populations by Modeling Ancestral Admixture Components. PMID:34626111
Gene-Based Association Mapping for Dental Caries in The GENEVA Consortium. PMID:34622142
An integrated approach to identify environmental modulators of genetic risk factors for complex traits. PMID:34582792
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome. PMID:34561431
Epigenome-wide association study detects a novel loci associated with central obesity in healthy subjects. PMID:34556110
Early Life Adversity and Polygenic Risk for High Fasting Insulin Are Associated With Childhood Impulsivity. PMID:34539334
Multiethnic genome-wide and HLA association study of total serum IgE level. PMID:34536413
Genetically determined low income modifies Alzheimer's disease risk. PMID:34532359
A comprehensive integrated post-GWAS analysis of Type 1 diabetes reveals enhancer-based immune dysregulation. PMID:34529725
GRAND: a database of gene regulatory network models across human conditions. PMID:34508353
Using hierarchical similarity to examine the genetics of Behçet's disease. PMID:34507623
Prenatal risk factors and neonatal DNA methylation in very preterm infants. PMID:34507616
Evolution of cytokine production capacity in ancient and modern European populations. PMID:34488939
An Ovarian Cancer Susceptible Gene Prediction Method Based on Deep Learning Methods. PMID:34485310
Advances in profiling chromatin architecture shed light on the regulatory dynamics underlying brain disorders. PMID:34483043
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. PMID:34475573
Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation. PMID:34475398
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability. PMID:34467851
An approach to gene-based testing accounting for dependence of tests among nearby genes. PMID:34459489
The impact of age on genetic risk for common diseases. PMID:34437535
3'aQTL-atlas: an atlas of 3'UTR alternative polyadenylation quantitative trait loci across human normal tissues. PMID:34432052
Quantitative Human Paleogenetics: What can Ancient DNA Tell us About Complex Trait Evolution? PMID:34422004
Infection outcome needs two to tango: human host and the pathogen. PMID:34402498
Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease. PMID:34375312
Unveiling the Pathogenesis of Psychiatric Disorders Using Network Models. PMID:34356117
Understanding the impact of SNPs associated with autism spectrum disorder on biological pathways in the human fetal and adult cortex. PMID:34354167
Extensive bidirectional genetic overlap between bipolar disorder and cardiovascular disease phenotypes. PMID:34301917
Retinoblastoma genetics screening and clinical management. PMID:34294096
Recessive/dominant model: Alternative choice in case-control-based genome-wide association studies. PMID:34288964
Genomewide alteration of histone H3K4 methylation underlies genetic vulnerability to psychopathology. PMID:34282735
Epigenetic rewiring of skeletal muscle enhancers after exercise training supports a role in whole-body function and human health. PMID:34252634
Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease. PMID:34229738
Highly pleiotropic variants of human traits are enriched in genomic regions with strong background selection. PMID:34228221
Characterizing the Genetic Architecture of Parkinson's Disease in Latinos. PMID:34227697
Revisiting a GWAS peak in Arabidopsis thaliana reveals possible confounding by genetic heterogeneity. PMID:34226672
Shared genetic architecture between neuroticism, coronary artery disease and cardiovascular risk factors. PMID:34226488
Highly multiplexed rapid DNA detection with single-nucleotide specificity via convective PCR in a portable device. PMID:34211146
The Genetics of Parkinson's Disease and Implications for Clinical Practice. PMID:34208795
Mendelian randomization analysis of arsenic metabolism and pulmonary function within the Hispanic Community Health Study/Study of Latinos. PMID:34188144
Polygenic Risk Scores to Identify CVD Risk and Tailor Therapy: Hope or Hype? PMID:34181090
Reference Module-Based Analysis of Ovarian Cancer Transcriptome Identifies Important Modules and Potential Drugs. PMID:34173117
Dysregulation of the secretory pathway connects Alzheimer's disease genetics to aggregate formation. PMID:34171228
Accurate prediction of cis-regulatory modules reveals a prevalent regulatory genome of humans. PMID:34159315
Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. PMID:34155038
A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts. PMID:34140684
A comparison of genotyping arrays. PMID:34140649
Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. PMID:34131746
DGLinker: flexible knowledge-graph prediction of disease-gene associations. PMID:34125897
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome. PMID:34125832
Genome-wide DNA methylation analysis on C-reactive protein among Ghanaians suggests molecular links to the emerging risk of cardiovascular diseases. PMID:34117263
Association of Novel Locus With Rheumatic Heart Disease in Black African Individuals: Findings From the RHDGen Study. PMID:34106200
Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents. PMID:34099811
Chamber-enriched gene expression profiles in failing human hearts with reduced ejection fraction. PMID:34088950
Testing and estimation of X-chromosome SNP effects: Impact of model assumptions. PMID:34082482
GWAS Links New Variant in Long Non-Coding RNA LINC02006 with Colorectal Cancer Susceptibility. PMID:34070617
Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families. PMID:34069769
Statistical Learning Methods Applicable to Genome-Wide Association Studies on Unbalanced Case-Control Disease Data. PMID:34068248
Genome-Wide Analysis of Sex Disparities in the Genetic Architecture of Lung and Colorectal Cancers. PMID:34062886
Genetic underpinnings of sociability in the general population. PMID:34054130
Inferring Genome-Wide Correlations of Mutation Fitness Effects between Populations. PMID:34043790
Enhancer release and retargeting activates disease-susceptibility genes. PMID:34040254
Lantern: an integrative repository of functional annotations for lncRNAs in the human genome. PMID:34039271
Essential genes from genome-wide screenings as a resource for neuropsychiatric disorders gene discovery. PMID:34035214
Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression. PMID:33978893
MiR-3130-5p is an intermediate modulator of 2q33 and influences the invasiveness of lung adenocarcinoma by targeting NDUFS1. PMID:33978320
Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes. PMID:33972514
Transcriptome prediction performance across machine learning models and diverse ancestries. PMID:33937878
Statistical Impact of Sample Size and Imbalance on Multivariate Analysis in silico and A Case Study in the UK Biobank. PMID:33936514
A fast wavelet-based functional association analysis replicates several susceptibility loci for birth weight in a Norwegian population. PMID:33932983
MARS: leveraging allelic heterogeneity to increase power of association testing. PMID:33931127
KLK3 SNP-SNP interactions for prediction of prostate cancer aggressiveness. PMID:33927218
Novel lincRNA Discovery and Tissue-Specific Gene Expression across 30 Normal Human Tissues. PMID:33919168
Triangulating Molecular Evidence to Prioritize Candidate Causal Genes at Established Atopic Dermatitis Loci. PMID:33901562
Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults. PMID:33901188
DNA methylation as the link between migration and the major noncommunicable diseases: the RODAM study. PMID:33890479
H3ABioNet genomic medicine and microbiome data portals hackathon proceedings. PMID:33864455
A Type 2 Diabetes Subtype Responsive to ACCORD Intensive Glycemia Treatment. PMID:33863751
Validation of breast cancer risk assessment tools on a French-Canadian population-based cohort. PMID:33846154
Multi-omics analysis identifies CpGs near G6PC2 mediating the effects of genetic variants on fasting glucose. PMID:33842983
In silico Analysis of Polymorphisms in microRNAs Deregulated in Alzheimer Disease. PMID:33841080
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes. PMID:33836063
Shared heritability of human face and brain shape. PMID:33821002
Transcriptional circuitry atlas of genetic diverse unstimulated murine and human macrophages define disparity in population-wide innate immunity. PMID:33795737
DNA hypo-methylation facilitates anti-inflammatory responses in severe ulcerative colitis. PMID:33793617
Emerging issues in genomic selection. PMID:33773494
A transcription-centric model of SNP-age interaction. PMID:33770080
A Fast Algorithm for Maximum Likelihood Estimation of Mixture Proportions Using Sequential Quadratic Programming. PMID:33762803
Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study. PMID:33740060
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus. PMID:33729517
Genetic risk scores for cardiometabolic traits in sub-Saharan African populations. PMID:33729508
Integration of summary data from GWAS and eQTL studies identified novel risk genes for coronary artery disease. PMID:33725943
The genetic architecture of structural left-right asymmetry of the human brain. PMID:33723403
COVID-19 patient transcriptomic and genomic profiling reveals comorbidity interactions with psychiatric disorders. PMID:33723208
Improving reporting standards for polygenic scores in risk prediction studies. PMID:33692554
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. PMID:33692100
Risk assessment of type 2 diabetes in northern China based on the logistic regression model. PMID:33682772
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis. PMID:33675743
AP-1 subunits converge promiscuously at enhancers to potentiate transcription. PMID:33674350
Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers. PMID:33667223
Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals. PMID:33657282
Fast searches of large collections of single-cell data using scfind. PMID:33649586
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. PMID:33649486
Genetic variation and urine cadmium levels: ABCC1 effects in the Strong Heart Family Study. PMID:33640655
Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits. PMID:33623009
GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression. PMID:33608531
Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts. PMID:33579919
Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations. PMID:33575800
A genome-wide association study for gut metagenome in Chinese adults illuminates complex diseases. PMID:33563976
Replication of HLA class II locus association with susceptibility to podoconiosis in three Ethiopian ethnic groups. PMID:33558538
Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility. PMID:33549134
Alcohol Intake and Alcohol-SNP Interactions Associated with Prostate Cancer Aggressiveness. PMID:33540941
The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case. PMID:33538426
Regulatory genomic circuitry of human disease loci by integrative epigenomics. PMID:33536621
Associations of biogeographic ancestry with hypertension traits. PMID:33534346
Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy. PMID:33529666
A regulatory variant at 3q21.1 confers an increased pleiotropic risk for hyperglycemia and altered bone mineral density. PMID:33513366
Elucidation of the Genomic-Epigenomic Interaction Landscape of Aggressive Prostate Cancer. PMID:33511206
Genetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study. PMID:33510439
Meta-analysis of SNP-environment interaction with heterogeneity for overlapping data. PMID:33510406
Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model. PMID:33472890
Meta-analysis of sample-level dbGaP data reveals novel shared genetic link between body height and Crohn's disease. PMID:33452914
A cortical immune network map identifies distinct microglial transcriptional programs associated with β-amyloid and Tau pathologies. PMID:33446646
Transcriptome-wide high-throughput mapping of protein-RNA occupancy profiles using POP-seq. PMID:33441968
Evolutionary genetics of skin pigmentation in African populations. PMID:33438000
Current insights into the genetics of food allergy. PMID:33436162
The case for open science: rare diseases. PMID:33426479
Pleiotropic genetic influence on birth weight and childhood obesity. PMID:33420178
MicroPhenoDB Associates Metagenomic Data with Pathogenic Microbes, Microbial Core Genes, and Human Disease Phenotypes. PMID:33418085
Meta-Analysis of Differentially Expressed Genes in the Substantia Nigra in Parkinson's Disease Supports Phenotype-Specific Transcriptome Changes. PMID:33390883
Community Approaches for Integrating Environmental Exposures into Human Models of Disease. PMID:33369481
Promoter-interacting expression quantitative trait loci are enriched for functional genetic variants. PMID:33349701
Disease-Causing Mutations and Rearrangements in Long Non-coding RNA Gene Loci. PMID:33329688
Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis. PMID:33320851
GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations. PMID:33312764
Functional studies of GWAS variants are gaining momentum. PMID:33293539
Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease. PMID:33288751
Next generation sequencing of SARS-CoV-2 genomes: challenges, applications and opportunities. PMID:33279989
Single-cell lineage analysis reveals extensive multimodal transcriptional control during directed beta-cell differentiation. PMID:33257854
What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis? PMID:33256133
Qtlizer: comprehensive QTL annotation of GWAS results. PMID:33235230
A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PMID:33226994
Genomics of hypertension: the road to precision medicine. PMID:33219353
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia. PMID:33216977
15 years of genome-wide association studies and no signs of slowing down. PMID:33214558
An integrative machine learning approach to discovering multi-level molecular mechanisms of obesity using data from monozygotic twin pairs. PMID:33204460
Cis- and Trans-Acting Expression Quantitative Trait Loci of Long Non-Coding RNA in 2,549 Cancers With Potential Clinical and Therapeutic Implications. PMID:33194770
Exome Sequencing of Native Populations From the Amazon Reveals Patterns on the Peopling of South America. PMID:33193622
Comprehensive mapping of the human cytokine gene regulatory network. PMID:33179750
Genetically Predicted Circulating Level of C-Reactive Protein Is Not Associated With Prostate Cancer Risk. PMID:33178578
Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles. PMID:33167971
EpiGraphDB: a database and data mining platform for health data science. PMID:33165574
Implications of venous thromboembolism GWAS reported genetic makeup in the clinical outcome of ovarian cancer patients. PMID:33161412
Functional analysis of low-grade glioma genetic variants predicts key target genes and transcription factors. PMID:33130899
High-depth African genomes inform human migration and health. PMID:33116287
A method for estimating coherence of molecular mechanisms in major human disease and traits. PMID:33087046
Systems Level Analysis and Identification of Pathways and Key Genes Associated with Delirium. PMID:33086708
Intrinsic DNA topology as a prioritization metric in genomic fine-mapping studies. PMID:33084892
The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations. PMID:33083011
Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets. PMID:33066754
The Variant rs1784042 of the SIDT2 Gene is Associated with Metabolic Syndrome through Low HDL-c Levels in a Mexican Population. PMID:33066450
Integrative genomics analysis identifies promising SNPs and genes implicated in tuberculosis risk based on multiple omics datasets. PMID:33051402
Genetic Regulation of Atherosclerosis-Relevant Phenotypes in Human Vascular Smooth Muscle Cells. PMID:33040646
Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk. PMID:33037222
Single-Cell Transcriptome Analysis Reveals Dynamic Cell Populations and Differential Gene Expression Patterns in Control and Aneurysmal Human Aortic Tissue. PMID:33017217
Genome-wide association study of cardiovascular disease in testicular cancer patients treated with platinum-based chemotherapy. PMID:33011741
CancerImmunityQTL: a database to systematically evaluate the impact of genetic variants on immune infiltration in human cancer. PMID:33010176
Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis. PMID:33007889
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. PMID:32991828
Multi-ethnic transcriptome-wide association study of prostate cancer. PMID:32986714
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults. PMID:32963231
Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma. PMID:32945147
Evaluating the informativeness of deep learning annotations for human complex diseases. PMID:32943643
A network analysis framework of genetic and nongenetic risks for type 2 diabetes. PMID:32926312
Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences. PMID:32915782
Primo: integration of multiple GWAS and omics QTL summary statistics for elucidation of molecular mechanisms of trait-associated SNPs and detection of pleiotropy in complex traits. PMID:32912334
PTWAS: investigating tissue-relevant causal molecular mechanisms of complex traits using probabilistic TWAS analysis. PMID:32912253
Insights into glucocorticoid responses derived from omics studies. PMID:32910934
SAMA: A Fast Self-Adaptive Memetic Algorithm for Detecting SNP-SNP Interactions Associated with Disease. PMID:32908899
rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis. PMID:32882372
Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs. PMID:32879140
Genetics meets proteomics: perspectives for large population-based studies. PMID:32860016
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. PMID:32843070
Large-Scale Topological Changes Restrain Malignant Progression in Colorectal Cancer. PMID:32841603
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery. PMID:32827758
Partitioning gene-based variance of complex traits by gene score regression. PMID:32817676
Genetic and functional insights into the fractal structure of the heart. PMID:32814899
Systematic identification of functional SNPs interrupting 3'UTR polyadenylation signals. PMID:32804959
Diversity Outbred Mice Reveal the Quantitative Trait Locus and Regulatory Cells of HER2 Immunity. PMID:32796024
Genome-wide association analysis of pulse wave velocity traits provide new insights into the causal relationship between arterial stiffness and blood pressure. PMID:32790701
Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data. PMID:32781045
A framework for pathway knowledge driven prioritization in genome-wide association studies. PMID:32779262
Population-scale proteome variation in human induced pluripotent stem cells. PMID:32773033
The shared genetic architecture of schizophrenia, bipolar disorder and lifespan. PMID:32772156
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
ABC-GWAS: Functional Annotation of Estrogen Receptor-Positive Breast Cancer Genetic Variants. PMID:32765587
Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders. PMID:32764605
Genetically predicted circulating concentrations of micronutrients and risk of breast cancer: A Mendelian randomization study. PMID:32761610
VariantSpark: Cloud-based machine learning for association study of complex phenotype and large-scale genomic data. PMID:32761098
Mitochondrial pathways in human health and aging. PMID:32738358
NetCore: a network propagation approach using node coreness. PMID:32735660
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis. PMID:32734384
Landscape of cohesin-mediated chromatin loops in the human genome. PMID:32728247
Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer. PMID:32724790
Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis. PMID:32723749
Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations. PMID:32719451
Differences in local population history at the finest level: the case of the Estonian population. PMID:32712624
Cancer Risk Studies and Priority Areas for Cancer Risk Appraisal in Uganda. PMID:32704483
Gene mapping and functional annotation of GWAS of oral ulcers using FUMA software. PMID:32699208
Blood DNA methylation sites predict death risk in a longitudinal study of 12, 300 individuals. PMID:32697766
Workflow for the Implementation of Precision Genomics in Healthcare. PMID:32695137
The Phenotypic Consequences of Genetic Divergence between Admixed Latin American Populations: Antioquia and Chocó, Colombia. PMID:32681795
SNP-HLA Reference Consortium (SHLARC): HLA and SNP data sharing for promoting MHC-centric analyses in genomics. PMID:32681667
Protein-Protein interactions uncover candidate 'core genes' within omnigenic disease networks. PMID:32678846
Network Analysis Identifies Gene Regulatory Network Indicating the Role of RUNX1 in Human Intervertebral Disc Degeneration. PMID:32659941
Combinatorial and statistical prediction of gene expression from haplotype sequence. PMID:32657373
MAGGIE: leveraging genetic variation to identify DNA sequence motifs mediating transcription factor binding and function. PMID:32657363
Scleral HIF-1α is a prominent regulatory candidate for genetic and environmental interactions in human myopia pathogenesis. PMID:32652319
Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults. PMID:32641083
A review of big data and medical research. PMID:32637104
Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits. PMID:32628676
Prediction of Nephrotoxicity Associated With Cisplatin-Based Chemotherapy in Testicular Cancer Patients. PMID:32617516
Multi-Ethnic Genome-Wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits. PMID:32602732
Robust Hi-C Maps of Enhancer-Promoter Interactions Reveal the Function of Non-coding Genome in Neural Development and Diseases. PMID:32592681
Emerging Roles of RNA 3'-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders. PMID:32560344
Genetic variants associated with alcohol dependence co-ordinate regulation of ADH genes in gastrointestinal and adipose tissues. PMID:32555468
Study of genetic correlation between children's sleep and obesity. PMID:32555314
Epigenetic biomarkers and preterm birth. PMID:32551139
Genetic Risk Scores for Complex Disease Traits in Youth. PMID:32527150
Significance of Single-Nucleotide Variants in Long Intergenic Non-protein Coding RNAs. PMID:32523949
Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations. PMID:32519380
Exploring and visualizing large-scale genetic associations by using PheWeb. PMID:32504056
Iterative hard thresholding in genome-wide association studies: Generalized linear models, prior weights, and double sparsity. PMID:32491161
From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases. PMID:32477401
Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia. PMID:32467347
Evaluating drug targets through human loss-of-function genetic variation. PMID:32461653
Proteomic and Metabolomic Correlates of Healthy Dietary Patterns: The Framingham Heart Study. PMID:32438708
Summary-Based Methylome-Wide Association Analyses Suggest Potential Genetically Driven Epigenetic Heterogeneity of Alzheimer's Disease. PMID:32429084
Quantifying genetic effects on disease mediated by assayed gene expression levels. PMID:32424349
Determinants of transcription factor regulatory range. PMID:32424124
Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR. PMID:32424072
The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic. PMID:32404885
A Custom Genotyping Array Reveals Population-Level Heterogeneity for the Genetic Risks of Prostate Cancer and Other Cancers in Africa. PMID:32393663
Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PMID:32392208
Genomics of Blood Pressure and Hypertension: Extending the Mosaic Theory Toward Stratification. PMID:32389342
Differentiation of Hispanic biogeographic ancestry with 80 ancestry informative markers. PMID:32385290
Identifying Shared Risk Genes for Asthma, Hay Fever, and Eczema by Multi-Trait and Multiomic Association Analyses. PMID:32373153
A structural brain network of genetic vulnerability to psychiatric illness. PMID:32372008
Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells. PMID:32352027
circRNAprofiler: an R-based computational framework for the downstream analysis of circular RNAs. PMID:32349660
Common genetic variation in obesity, lipid transfer genes and risk of Metabolic Syndrome: Results from IDEFICS/I.Family study and meta-analysis. PMID:32346024
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease. PMID:32345996
Promoter-anchored chromatin interactions predicted from genetic analysis of epigenomic data. PMID:32345984
A genome wide association study for lung function in the Korean population using an exome array. PMID:32336055
Prioritizing genetic variants in GWAS with lasso using permutation-assisted tuning. PMID:32246825
Loss-of-function tolerance of enhancers in the human genome. PMID:32243438
Adaptive Fisher method detects dense and sparse signals in association analysis of SNV sets. PMID:32241265
Dense module searching for gene networks associated with multiple sclerosis. PMID:32241259
Comprehensive functional annotation of susceptibility variants associated with asthma. PMID:32240371
Identifying the immune interactions underlying HLA class I disease associations. PMID:32238263
Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes. PMID:32221480
Genetic Associations in Four Decades of Multienvironment Trials Reveal Agronomic Trait Evolution in Common Bean. PMID:32205398
Precise and Cost-Effective Nanopore Sequencing for Post-GWAS Fine-Mapping and Causal Variant Identification. PMID:32203907
Prediction of blood test values under different lifestyle scenarios using time-series electronic health record. PMID:32196517
Translation of mouse model to human gives insights into periodontitis etiology. PMID:32184465
Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank. PMID:32184442
Mendelian Randomization Identifies CpG Methylation Sites With Mediation Effects for Genetic Influences on BMD in Peripheral Blood Monocytes. PMID:32180791
Identification of a robust non-coding RNA signature in diagnosing autism spectrum disorder by cross-validation of microarray data from peripheral blood samples. PMID:32176083
Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics. PMID:32171239
SNPeffect: identifying functional roles of SNPs using metabolic networks. PMID:32167625
A preliminary computational outputs versus experimental results: Application of sTRAP, a biophysical tool for the analysis of SNPs of transcription factor-binding sites. PMID:32155318
Empirical comparisons of multiple Mendelian randomization approaches in the presence of assortative mating. PMID:32155257
The influence of rare variants in circulating metabolic biomarkers. PMID:32150548
Differential DNA methylation of vocal and facial anatomy genes in modern humans. PMID:32132541
Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk. PMID:32128252
ncRPheno: a comprehensive database platform for identification and validation of disease related noncoding RNAs. PMID:32122231
A mixed-model approach for powerful testing of genetic associations with cancer risk incorporating tumor characteristics. PMID:32112086
Leveraging genome-wide data to investigate differences between opioid use vs. opioid dependence in 41,176 individuals from the Psychiatric Genomics Consortium. PMID:32099098
Discovering weaker genetic associations guided by known associations. PMID:32093702
Genome-Wide Association Study of Pain in Parkinson's Disease Implicates TRPM8 as a Risk Factor. PMID:32078185
Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB. PMID:32065238
Sarcopenia-related traits and coronary artery disease: a bi-directional Mendelian randomization study. PMID:32062614
Integrative comparison of the genomic and transcriptomic landscape between prostate cancer patients of predominantly African or European genetic ancestry. PMID:32059012
Power calculation for the general two-sample Mendelian randomization analysis. PMID:32048336
Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke. PMID:32047268
Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. PMID:32041948
AllergyGenDB: A literature and functional annotation-based omics database for allergic diseases. PMID:32034783
Unraveling the role of salt-sensitivity genes in obesity with integrated network biology and co-expression analysis. PMID:32027667
A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease. PMID:32024964
Asthma epidemiology and risk factors. PMID:32020334
DSNetwork: An Integrative Approach to Visualize Predictions of Variants' Deleteriousness. PMID:32010198
Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis. PMID:32009195
Candidate Regulators of Dyslipidemia in Chromosome 1 Substitution Lines Using Liver Co-Expression Profiling Analysis. PMID:31998355
An integrated analysis of public genomic data unveils a possible functional mechanism of psoriasis risk via a long-range ERRFI1 enhancer. PMID:31969149
Single cell and genetic analyses reveal conserved populations and signaling mechanisms of gastrointestinal stromal niches. PMID:31953387
Lymphocyte DNA methylation mediates genetic risk at shared immune-mediated disease loci. PMID:31945409
Omics in Neurodegenerative Disease: Hope or Hype? PMID:31932096
The open targets post-GWAS analysis pipeline. PMID:31930349
rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression. PMID:31928966
CLARITE Facilitates the Quality Control and Analysis Process for EWAS of Metabolic-Related Traits. PMID:31921293
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. PMID:31919418
Mechanisms of tissue and cell-type specificity in heritable traits and diseases. PMID:31913361
Epigenetics meets proteomics in an epigenome-wide association study with circulating blood plasma protein traits. PMID:31900413
An epigenome-wide association study of sex-specific chronological ageing. PMID:31892350
A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans. PMID:31891604
Identifying cross-disease components of genetic risk across hospital data in the UK Biobank. PMID:31873298
RSAT variation-tools: An accessible and flexible framework to predict the impact of regulatory variants on transcription factor binding. PMID:31871587
Edematous severe acute malnutrition is characterized by hypomethylation of DNA. PMID:31857576
Genetic correlations of psychiatric traits with body composition and glycemic traits are sex- and age-dependent. PMID:31852892
Evaluation of gene-environment interactions for colorectal cancer susceptibility loci using case-only and case-control designs. PMID:31849324
A powerful fine-mapping method for transcriptome-wide association studies. PMID:31844974
Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania. PMID:31844061
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI. PMID:31840077
Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval. PMID:31830040
Dissecting the Role of NF-κb Protein Family and Its Regulators in Rheumatoid Arthritis Using Weighted Gene Co-Expression Network. PMID:31824568
Single nucleotide polymorphisms associated with susceptibility for development of colorectal cancer: Case-control study in a Basque population. PMID:31821333
A Gene-Environment Interaction Between Smoking and Gene polymorphisms Provides a High Risk of Two Subgroups of Sarcoidosis. PMID:31819081
Mapping the Germline and Somatic Mutation Interaction Landscape in Indolent and Aggressive Prostate Cancers. PMID:31814827
Deep learning of pharmacogenomics resources: moving towards precision oncology. PMID:31813953
Assessing the performance of genome-wide association studies for predicting disease risk. PMID:31805043
Changes in Proteomic Profiles are Related to Changes in BMI and Fat Distribution During 10 Years of Aging. PMID:31804015
Cardioinformatics: the nexus of bioinformatics and precision cardiology. PMID:31802103
Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans. PMID:31798965
GWAS studies reveal a possible genetic link between cancer and suicide attempt. PMID:31797972
Pathway and network embedding methods for prioritizing psychiatric drugs. PMID:31797637
Identification of genetic overlap and novel risk loci for attention-deficit/hyperactivity disorder and bipolar disorder. PMID:31792363
Developmental Pathways from Genetic, Prenatal, Parenting and Emotional/Behavioral Risk to Cortisol Reactivity and Adolescent Substance Use: A TRAILS Study. PMID:31786769
Reconstruction of Cell-type-Specific Interactomes at Single-Cell Resolution. PMID:31786210
Integrating Clinical Data and Imputed Transcriptome from GWAS to Uncover Complex Disease Subtypes: Applications in Psychiatry and Cardiology. PMID:31785786
Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico. PMID:31780696
I3: A Self-organising Learning Workflow for Intuitive Integrative Interpretation of Complex Genetic Data. PMID:31765831
Easy-HLA: a validated web application suite to reveal the full details of HLA typing. PMID:31750874
Biological and practical implications of genome-wide association study of schizophrenia using Bayesian variable selection. PMID:31745092
EnhancerAtlas 2.0: an updated resource with enhancer annotation in 586 tissue/cell types across nine species. PMID:31740966
A network-based approach to identify deregulated pathways and drug effects in metabolic syndrome. PMID:31740673
A meta-analysis of genome-wide association studies of epigenetic age acceleration. PMID:31738745
Genetic polymorphisms associated with sleep-related phenotypes; relationships with individual nocturnal symptoms of insomnia in the HUNT study. PMID:31718593
SNP eQTL status and eQTL density in the adjacent region of the SNP are associated with its statistical significance in GWA studies. PMID:31718536
A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population. PMID:31712607
Development and validation of a novel and robust blood small nuclear RNA signature in diagnosing autism spectrum disorder. PMID:31702648
Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy. PMID:31679650
The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes. PMID:31676868
The impact of short tandem repeat variation on gene expression. PMID:31676866
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. PMID:31675503
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. PMID:31672989
Exploring effective approaches for haplotype block phasing. PMID:31666002
Influence of genetic polymorphism on transcriptional enhancer activity in the malaria vector Anopheles coluzzii. PMID:31649293
Clinical implications of recent advances in primary open-angle glaucoma genetics. PMID:31645673
Interval breast cancer is associated with other types of tumors. PMID:31641120
A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context. PMID:31636271
BDNF genetic variants and methylation: effects on cognition in major depressive disorder. PMID:31636250
Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction. PMID:31631012
Genetic analysis of hsCRP in American Indians: The Strong Heart Family Study. PMID:31622379
Transcribed B lymphocyte genes and multiple sclerosis risk genes are underrepresented in Epstein-Barr Virus hypomethylated regions. PMID:31619767
Role of cigarette smoking in the development of ischemic stroke and its subtypes: a Mendelian randomization study. PMID:31616189
pathfindR: An R Package for Comprehensive Identification of Enriched Pathways in Omics Data Through Active Subnetworks. PMID:31608109
Local ancestry at APOE modifies Alzheimer's disease risk in Caribbean Hispanics. PMID:31606368
KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern. PMID:31600170
Bayesian multivariate reanalysis of large genetic studies identifies many new associations. PMID:31596850
PGG.Han: the Han Chinese genome database and analysis platform. PMID:31584086
Transcriptome association studies of neuropsychiatric traits in African Americans implicate PRMT7 in schizophrenia. PMID:31579629
Integrating Genome-Wide Association Studies With Pathway Analysis and Gene Expression Analysis Highlights Novel Osteoarthritis Risk Pathways and Genes. PMID:31572443
Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. PMID:31570892
GWAS Atlas: a curated resource of genome-wide variant-trait associations in plants and animals. PMID:31566222
Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain. PMID:31560688
Decreased expression of microRNAs targeting type-2 diabetes susceptibility genes in peripheral blood of patients and predisposed individuals. PMID:31559537
A characterization of cis- and trans-heritability of RNA-Seq-based gene expression. PMID:31558840
Genetic associations of perinatal pain and depression. PMID:31552780
The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease. PMID:31552093
The transferability of lipid loci across African, Asian and European cohorts. PMID:31551420
Model-based clustering for identifying disease-associated SNPs in case-control genome-wide association studies. PMID:31548641
Myopia genetics in genome-wide association and post-genome-wide association study era. PMID:31544047
Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans. PMID:31538139
Evidence of a Causal Association Between Cancer and Alzheimer's Disease: a Mendelian Randomization Analysis. PMID:31537833
Genome-wide identification of DNA methylation QTLs in whole blood highlights pathways for cardiovascular disease. PMID:31537805
Novel Haplotype Indicator for End-Stage Renal Disease Progression among Saudi Patients. PMID:31534799
Evolutionary and functional impact of common polymorphic inversions in the human genome. PMID:31530810
A regression framework to uncover pleiotropy in large-scale electronic health record data. PMID:31529123
Cell type-specific transcriptional programs in mouse prefrontal cortex during adolescence and addiction. PMID:31519873
Identification of human genetic variants controlling circular RNA expression. PMID:31519742
Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe. PMID:31517044
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. PMID:31515488
SNP2APA: a database for evaluating effects of genetic variants on alternative polyadenylation in human cancers. PMID:31511885
A Unique Epigenomic Landscape Defines Human Erythropoiesis. PMID:31509757
The Cancer-Associated Genetic Variant Rs3903072 Modulates Immune Cells in the Tumor Microenvironment. PMID:31507631
Phosphoinositides: Regulators of Nervous System Function in Health and Disease. PMID:31507376
Gene-diet interactions associated with complex trait variation in an advanced intercross outbred mouse line. PMID:31506438
Allele-Specific Transcript Abundance: A Pilot Study in Healthy Centenarians. PMID:31504207
A methylation study of long-term depression risk. PMID:31501512
A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases. PMID:31494632
Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome. PMID:31494266
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
Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms. PMID:31482761
A method for genome-wide genealogy estimation for thousands of samples. PMID:31477933
Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders. PMID:31477794
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. PMID:31477735
Genome-wide profiling of DNA methylome and transcriptome in peripheral blood monocytes for major depression: A Monozygotic Discordant Twin Study. PMID:31477685
The Length of the Expressed 3' UTR Is an Intermediate Molecular Phenotype Linking Genetic Variants to Complex Diseases. PMID:31475030
Target Genes of Autism Risk Loci in Brain Frontal Cortex. PMID:31447881
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study. PMID:31440271
Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated. PMID:31411675
ncRNA-eQTL: a database to systematically evaluate the effects of SNPs on non-coding RNA expression across cancer types. PMID:31410488
GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits. PMID:31409800
Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies. PMID:31402603
Identifying Putative Susceptibility Genes and Evaluating Their Associations with Somatic Mutations in Human Cancers. PMID:31402092
MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells. PMID:31399133
Genetic model of MS severity predicts future accumulation of disability. PMID:31396954
Opportunities, resources, and techniques for implementing genomics in clinical care. PMID:31395439
Genetically regulated gene expression underlies lipid traits in Hispanic cohorts. PMID:31393916
Appraising the role of previously reported risk factors in epithelial ovarian cancer risk: A Mendelian randomization analysis. PMID:31390370
Population-specific long-range linkage disequilibrium in the human genome and its influence on identifying common disease variants. PMID:31388069
Cell-type-specific resolution epigenetics without the need for cell sorting or single-cell biology. PMID:31366909
Causal Association Between Birth Weight and Adult Diseases: Evidence From a Mendelian Randomization Analysis. PMID:31354785
Genetic determinants of beverage consumption: Implications for nutrition and health. PMID:31351524
An expanded landscape of human long noncoding RNA. PMID:31350901
GWEHS: A Genome-Wide Effect Sizes and Heritability Screener. PMID:31344961
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits. PMID:31341166
Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population. PMID:31340865
Exome-Wide Rare Variant Analysis From the DiscovEHR Study Identifies Novel Candidate Predisposition Genes for Endometrial Cancer. PMID:31338326
The Era of the Genome and Dental Medicine. PMID:31329043
Prioritization of Variants for Investigation of Genotype-Directed Nutrition in Human Superpopulations. PMID:31323740
Conservation, acquisition, and functional impact of sex-biased gene expression in mammals. PMID:31320509
Evaluation of genetic susceptibility between systemic lupus erythematosus and GRB2 gene. PMID:31316132
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. PMID:31311600
Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects. PMID:31296926
Pathway analysis of rare variants for the clustered phenotypes by using hierarchical structured components analysis. PMID:31296220
Integrating biomedical research and electronic health records to create knowledge-based biologically meaningful machine-readable embeddings. PMID:31292438
Single Nucleotide Polymorphisms at a Distance from Aryl Hydrocarbon Receptor (AHR) Binding Sites Influence AHR Ligand-Dependent Gene Expression. PMID:31292129
Evaluation of the Genetic Variance of Alzheimer's Disease Explained by the Disease-Associated Chromosomal Regions. PMID:31282417
Epigenome-wide association study of DNA methylation and microRNA expression highlights novel pathways for human complex traits. PMID:31282290
Exploring the dark genome: implications for precision medicine. PMID:31270560
A genetics-led approach defines the drug target landscape of 30 immune-related traits. PMID:31253980
High-throughput identification of human SNPs affecting regulatory element activity. PMID:31253979
Inferring Interaction Networks From Multi-Omics Data. PMID:31249591
Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease. PMID:31249063
PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations. PMID:31233103
Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing. PMID:31231536
Active repurposing of drug candidates for melanoma based on GWAS, PheWAS and a wide range of omics data. PMID:31221082
Genetic analyses of diverse populations improves discovery for complex traits. PMID:31217584
Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle. PMID:31214239
The Transcriptional Landscape of Microglial Genes in Aging and Neurodegenerative Disease. PMID:31214167
Signatures of Recent Positive Selection in Enhancers Across 41 Human Tissues. PMID:31213516
Genetic determinants of low vitamin B12 levels in Alzheimer's disease risk. PMID:31206009
The transcriptome landscape associated with Disrupted-in-Schizophrenia-1 locus impairment in early development and adulthood. PMID:31204062
Evolutionary perspectives on polygenic selection, missing heritability, and GWAS. PMID:31201529
Genome-wide enriched pathway analysis of acute post-radiotherapy pain in breast cancer patients: a prospective cohort study. PMID:31196165
Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb. PMID:31194742
Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2. PMID:31194736
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins. PMID:31186485
Biology and Bias in Cell Type-Specific RNAseq of Nucleus Accumbens Medium Spiny Neurons. PMID:31171808
Learning Causal Biological Networks With the Principle of Mendelian Randomization. PMID:31164902
Mind the gap: resources required to receive, process and interpret research-returned whole genome data. PMID:31161416
Age at menarche and epithelial ovarian cancer risk: A meta-analysis and Mendelian randomization study. PMID:31145551
CNet: a multi-omics approach to detecting clinically associated, combinatory genomic signatures. PMID:31141125
Resolving the Insertion Sites of Polymorphic Duplications Reveals a HERC2 Haplotype under Selection. PMID:31124564
Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms. PMID:31123710
Inferring the Nature of Missing Heritability in Human Traits Using Data from the GWAS Catalog. PMID:31123044
Moving from one to many: insights from the growing list of pleiotropic cancer risk genes. PMID:31110328
Assortative Mating on Ancestry-Variant Traits in Admixed Latin American Populations. PMID:31105740
Integrated analysis of genomics, longitudinal metabolomics, and Alzheimer's risk factors among 1,111 cohort participants. PMID:31104335
Circulating phylloquinone, inactive Matrix Gla protein and coronary heart disease risk: A two-sample Mendelian Randomization study. PMID:31103344
Genome-wide analysis revealed sex-specific gene expression in asthmatics. PMID:31095684
Jackknife Model Averaging Prediction Methods for Complex Phenotypes with Gene Expression Levels by Integrating External Pathway Information. PMID:31089389
A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus. PMID:31073882
Identification of disease-associated loci using machine learning for genotype and network data integration. PMID:31070705
Benefits and limitations of genome-wide association studies. PMID:31068683
Genome-wide association studies for 30 haematological and blood clinical-biochemical traits in Large White pigs reveal genomic regions affecting intermediate phenotypes. PMID:31065004
DNA methylation signatures of monozygotic twins clinically discordant for multiple sclerosis. PMID:31064978
Epigenome-wide DNA methylation in placentas from preterm infants: association with maternal socioeconomic status. PMID:31062658
Genetic heterogeneity of Alzheimer's disease in subjects with and without hypertension. PMID:31055733
Genes with High Network Connectivity Are Enriched for Disease Heritability. PMID:31051114
Gain-of-Function Mutations: An Emerging Advantage for Cancer Biology. PMID:31047772
A genome-wide association study of bitter and sweet beverage consumption. PMID:31046077
Development of the Initial Surveys for the All of Us Research Program. PMID:31045611
TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes. PMID:31045203
Genome-wide association study identifies 30 loci associated with bipolar disorder. PMID:31043756
Abundant associations with gene expression complicate GWAS follow-up. PMID:31043754
The rs1126616 Single Nucleotide Polymorphism of the Osteopontin Gene Is Independently Associated with Cardiovascular Events in a Chronic Kidney Disease Cohort. PMID:31036794
Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. PMID:31036433
Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases. PMID:31036066
Targeted, High-Resolution RNA Sequencing of Non-coding Genomic Regions Associated With Neuropsychiatric Functions. PMID:31031799
Postmortem brain tissue as an underutilized resource to study the molecular pathology of neuropsychiatric disorders across different ethnic populations. PMID:31028758
Mendelian randomization analysis using mixture models for robust and efficient estimation of causal effects. PMID:31028273
Maternal circadian disruption is associated with variation in placental DNA methylation. PMID:31026301
Robust Reference Powered Association Test of Genome-Wide Association Studies. PMID:31024629
Combining Sparse Group Lasso and Linear Mixed Model Improves Power to Detect Genetic Variants Underlying Quantitative Traits. PMID:31024614
On the differences between mega- and meta-imputation and analysis exemplified on the genetics of age-related macular degeneration. PMID:31016765
Genome-wide association study of medication-use and associated disease in the UK Biobank. PMID:31015401
Epigenome-wide Analysis Identifies Genes and Pathways Linked to Neurobehavioral Variation in Preterm Infants. PMID:31004082
BayesPI-BAR2: A New Python Package for Predicting Functional Non-coding Mutations in Cancer Patient Cohorts. PMID:31001324
Accuracy of Gene Expression Prediction From Genotype Data With PrediXcan Varies Across and Within Continental Populations. PMID:31001318
Defining the genetic and evolutionary architecture of alternative splicing in response to infection. PMID:30975994
Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils. PMID:30972099
Altered gene expression in antipsychotic-induced weight gain. PMID:30971689
Systematic evaluation of cancer-specific genetic risk score for 11 types of cancer in The Cancer Genome Atlas and Electronic Medical Records and Genomics cohorts. PMID:30968590
DeepHistone: a deep learning approach to predicting histone modifications. PMID:30967126
A generally conserved response to hypoxia in iPSC-derived cardiomyocytes from humans and chimpanzees. PMID:30958265
High resolution discovery of chromatin interactions. PMID:30953075
Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour. PMID:30952852
The association of nucleotide-binding oligomerization domain 2 gene polymorphisms with the risk of asthma in the Chinese Han population. PMID:30950247
Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases. PMID:30947744
Big DNA as a tool to dissect an age-related macular degeneration-associated haplotype. PMID:30944767
Evolution and Comprehensive Analysis of DNaseI Hypersensitive Sites in Regulatory Regions of Primate Brain-Related Genes. PMID:30930929
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. PMID:30929738
Clinical use of current polygenic risk scores may exacerbate health disparities. PMID:30926966
Association of rs10830962 polymorphism with gestational diabetes mellitus risk in a Chinese population. PMID:30926842
Interactions of PVT1 and CASC11 on Prostate Cancer Risk in African Americans. PMID:30914434
Risk variants disrupting enhancers of TH1 and TREG cells in type 1 diabetes. PMID:30910956
Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density. PMID:30894546
The Transcription Factor ERG Regulates Super-Enhancers Associated With an Endothelial-Specific Gene Expression Program. PMID:30892142
Curating gene sets: challenges and opportunities for integrative analysis. PMID:30888410
Replicability analysis in genome-wide association studies via Cartesian hidden Markov models. PMID:30885122
DNA methylation signature of smoking in lung cancer is enriched for exposure signatures in newborn and adult blood. PMID:30872662
Single-Cell Heterogeneity Analysis and CRISPR Screen Identify Key β-Cell-Specific Disease Genes. PMID:30865899
PleioNet: a web-based visualization tool for exploring pleiotropy across complex traits. PMID:30865284
GenCoNet - A Graph Database for the Analysis of Comorbidities by Gene Networks. PMID:30864352
Precision drug repurposing via convergent eQTL-based molecules and pathway targeting independent disease-associated polymorphisms. PMID:30864332
Influence of tissue context on gene prioritization for predicted transcriptome-wide association studies. PMID:30864331
SNPs2ChIP: Latent Factors of ChIP-seq to infer functions of non-coding SNPs. PMID:30864321
Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach. PMID:30863397
2018 Langley Award for Basic Research on Nicotine and Tobacco: Bringing Precision Medicine to Smoking Cessation. PMID:30855677
Integration of methylation QTL and enhancer-target gene maps with schizophrenia GWAS summary results identifies novel genes. PMID:30850848
Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions. PMID:30847478
Osteogenesis depends on commissioning of a network of stem cell transcription factors that act as repressors of adipogenesis. PMID:30833796
Genome maps across 26 human populations reveal population-specific patterns of structural variation. PMID:30833565
Using Openly Accessible Resources to Strengthen Causal Inference in Epigenetic Epidemiology of Neurodevelopment and Mental Health. PMID:30832291
Colonic epithelial cell diversity in health and inflammatory bowel disease. PMID:30814735
Epigenome-Wide Association Study (EWAS) of Blood Lipids in Healthy Population from STANISLAS Family Study (SFS). PMID:30813608
Genomic Predictors of Asthma Phenotypes and Treatment Response. PMID:30805318
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. PMID:30804561
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. PMID:30804560
Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases. PMID:30804403
Lean mass, grip strength and risk of type 2 diabetes: a bi-directional Mendelian randomisation study. PMID:30798333
Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations. PMID:30787307
Diagnostic Algorithms to Study Post-Concussion Syndrome Using Electronic Health Records: Validating a Method to Capture an Important Patient Population. PMID:30773988
Vitamin D levels and risk of delirium: A mendelian randomization study in the UK Biobank. PMID:30770424
Metabolomics Approaches for the Diagnosis and Understanding of Kidney Diseases. PMID:30769897
Personalized medicine in cardio-oncology: the role of induced pluripotent stem cell. PMID:30768178
Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci. PMID:30760496
Analysis of the Functional Relevance of Epigenetic Chromatin Marks in the First Intron Associated with Specific Gene Expression Patterns. PMID:30753418
Data-driven multiple-level analysis of gut-microbiome-immune-joint interactions in rheumatoid arthritis. PMID:30744546
Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration. PMID:30742112
Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy. PMID:30742063
Oxytocin pathway gene networks in the human brain. PMID:30737392
A genetic variant associated with multiple sclerosis inversely affects the expression of CD58 and microRNA-548ac from the same gene. PMID:30730892
Blood-based analysis of type-2 diabetes mellitus susceptibility genes identifies specific transcript variants with deregulated expression and association with disease risk. PMID:30728419
The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. PMID:30718733
Self-Adjusting Ant Colony Optimization Based on Information Entropy for Detecting Epistatic Interactions. PMID:30717303
From nutrigenomics to personalizing diets: are we ready for precision medicine? PMID:30715122
Investigation of multi-trait associations using pathway-based analysis of GWAS summary statistics. PMID:30712509
GenESysV: a fast, intuitive and scalable genome exploration open source tool for variants generated from high-throughput sequencing projects. PMID:30704396
Selective Estrogen Receptor Modulators Enhance CNS Remyelination Independent of Estrogen Receptors. PMID:30696729
Leveraging chromatin accessibility for transcriptional regulatory network inference in T Helper 17 Cells. PMID:30696696
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment. PMID:30692689
Comparison of methods for multivariate gene-based association tests for complex diseases using common variants. PMID:30683923
Genomewide Association Study of Fracture Nonunion Using Electronic Health Records. PMID:30680360
Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21. PMID:30678091
The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus. PMID:30673885
Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. PMID:30664634
Spinning convincing stories for both true and false association signals. PMID:30657194
Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function. PMID:30650367
Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances. PMID:30642433
Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. PMID:30624610
A scientometric review of genome-wide association studies. PMID:30623105
Prediction of deleterious mutations in coding regions of mammals with transfer learning. PMID:30622632
Into the Wild: GWAS Exploration of Non-coding RNAs. PMID:30619888
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci. PMID:30617275
Most chromatin interactions are not in linkage disequilibrium. PMID:30617125
A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. PMID:30612741
Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence. PMID:30610197
Systems Genetics Approaches in Rat Identify Novel Genes and Gene Networks Associated With Cardiac Conduction. PMID:30608189
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set. PMID:30602777
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals. PMID:30598166
Novel disease syndromes unveiled by integrative multiscale network analysis of diseases sharing molecular effectors and comorbidities. PMID:30598089
Bayesian multiple logistic regression for case-control GWAS. PMID:30596640
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. PMID:30593698
Population structure in genetic studies: Confounding factors and mixed models. PMID:30589851
Current perspectives in assessing humoral immunity after measles vaccination. PMID:30585753
Epigenome-wide meta-analysis of DNA methylation and childhood asthma. PMID:30579849
Ensembl variation resources. PMID:30576484
Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations. PMID:30572963
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients. PMID:30567305
Exploring the genetic basis of human population differences in DNA methylation and their causal impact on immune gene regulation. PMID:30563547
Dichotomy in redundant enhancers points to presence of initiators of gene regulation. PMID:30563465
Gene-Based Nonparametric Testing of Interactions Using Distance Correlation Coefficient in Case-Control Association Studies. PMID:30563156
Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study. PMID:30552067
Integrating molecular networks with genetic variant interpretation for precision medicine. PMID:30548534
Regulatory SNPs and their widespread effects on the transcriptome. PMID:30541964
Identification of deleterious and regulatory genomic variations in known asthma loci. PMID:30541564
GWAS identifies 14 loci for device-measured physical activity and sleep duration. PMID:30531941
Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease. PMID:30525989
Type 1 Diabetes Mellitus-Associated Genetic Variants Contribute to Overlapping Immune Regulatory Networks. PMID:30524468
Genetics of common complex kidney stone disease: insights from genome-wide association studies. PMID:30523390
Genetic identification of Ly75 as a novel quantitative trait gene for resistance to obesity in mice. PMID:30518881
Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. PMID:30516085
Discovery of common and rare genetic risk variants for colorectal cancer. PMID:30510241
Whole genome sequencing of a MAGIC population identified genomic loci and candidate genes for major fiber quality traits in upland cotton (Gossypium hirsutum L.). PMID:30506522
A linear mixed-model approach to study multivariate gene-environment interactions. PMID:30478441
DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium. PMID:30478432
Open Targets Platform: new developments and updates two years on. PMID:30462303
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
The lncRNA RMEL3 protects immortalized cells from serum withdrawal-induced growth arrest and promotes melanoma cell proliferation and tumor growth. PMID:30457212
Genetic variants influence on the placenta regulatory landscape. PMID:30452450
Genetic effects and gene-by-education interactions on episodic memory performance and decline in an aging population. PMID:30449520
Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of ERAP2 transcripts under balancing selection. PMID:30446528
Causal effects of blood lipids on amyotrophic lateral sclerosis: a Mendelian randomization study. PMID:30445611
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. PMID:30445434
Genetic disease risks can be misestimated across global populations. PMID:30424772
dbPTM in 2019: exploring disease association and cross-talk of post-translational modifications. PMID:30418626
HumanNet v2: human gene networks for disease research. PMID:30418591
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. PMID:30409984
ANCO-GeneDB: annotations and comprehensive analysis of candidate genes for alcohol, nicotine, cocaine and opioid dependence. PMID:30403795
Deciphering the Emerging Complexities of Molecular Mechanisms at GWAS Loci. PMID:30388398
Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population. PMID:30382898
Disease networks identify specific conditions and pleiotropy influencing multimorbidity in the general population. PMID:30374096
EWAS Atlas: a curated knowledgebase of epigenome-wide association studies. PMID:30364969
Associations of Circulating Protein Levels With Lipid Fractions in the General Population. PMID:30354202
Circulating Phylloquinone Concentrations and Risk of Type 2 Diabetes: A Mendelian Randomization Study. PMID:30352877
Plasma B-vitamin and one-carbon metabolites and risk of breast cancer before and after folic acid fortification in the United States. PMID:30346061
Genomic and Phenomic Research in the 21st Century. PMID:30342790
Chromatin accessibility landscape of articular knee cartilage reveals aberrant enhancer regulation in osteoarthritis. PMID:30341348
Altered bile acid profile associates with cognitive impairment in Alzheimer's disease-An emerging role for gut microbiome. PMID:30337151
Replication of results from a cervical cancer genome-wide association study in Taiwanese women. PMID:30333560
CancerSplicingQTL: a database for genome-wide identification of splicing QTLs in human cancer. PMID:30329095
Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci. PMID:30306274
Cardiovascular Pharmacogenomics: Does It Matter If You're Black or White? PMID:30296897
Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. PMID:30289880
Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts. PMID:30277614
Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease. PMID:30275566
A survey of inter-individual variation in DNA methylation identifies environmentally responsive co-regulated networks of epigenetic variation in the human genome. PMID:30273333
A rare missense variant in NR1H4 associates with lower cholesterol levels. PMID:30271901
GAAD: A Gene and Autoimmiune Disease Association Database. PMID:30268934
The Cholinergic System as a Treatment Target for Opioid Use Disorder. PMID:30259415
REforge Associates Transcription Factor Binding Site Divergence in Regulatory Elements with Phenotypic Differences between Species. PMID:30256993
Human genes: Time to follow the roads less traveled? PMID:30256779
Systems genetics of nonsyndromic orofacial clefting provides insights into its complex aetiology. PMID:30254216
HACER: an atlas of human active enhancers to interpret regulatory variants. PMID:30247654
ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci. PMID:30239796
Analysis of Racial/Ethnic Representation in Select Basic and Applied Cancer Research Studies. PMID:30228363
Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease. PMID:30224808
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. PMID:30224653
T Cell/B Cell Collaboration and Autoimmunity: An Intimate Relationship. PMID:30210496
AnimalTFDB 3.0: a comprehensive resource for annotation and prediction of animal transcription factors. PMID:30204897
Pancan-meQTL: a database to systematically evaluate the effects of genetic variants on methylation in human cancer. PMID:30203047
DES-Mutation: System for Exploring Links of Mutations and Diseases. PMID:30190574
Polygenic risk score for predicting weight loss after bariatric surgery. PMID:30185664
Global landscape of mouse and human cytokine transcriptional regulation. PMID:30184180
DNA methylation as a transcriptional regulator of the immune system. PMID:30170004
To ERV Is Human: A Phenotype-Wide Scan Linking Polymorphic Human Endogenous Retrovirus-K Insertions to Complex Phenotypes. PMID:30154825
MERIT: Systematic Analysis and Characterization of Mutational Effect on RNA Interactome Topology. PMID:30153342
Exploring the Role of Fallopian Ciliated Cells in the Pathogenesis of High-Grade Serous Ovarian Cancer. PMID:30149579
Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue. PMID:30142156
Genome-wide DNA Methylation in Treatment-naïve Ulcerative Colitis. PMID:30137272
Applications of Immunopharmacogenomics: Predicting, Preventing, and Understanding Immune-Mediated Adverse Drug Reactions. PMID:30134124
The polymorphism rs35767 at IGF1 locus is associated with serum urate levels. PMID:30115944
INFERNO: inferring the molecular mechanisms of noncoding genetic variants. PMID:30113658
COPD is accompanied by co-ordinated transcriptional perturbation in the quadriceps affecting the mitochondria and extracellular matrix. PMID:30111857
Pigmentation phototype and prostate and breast cancer in a select Spanish population-A Mendelian randomization analysis in the MCC-Spain study. PMID:30106959
The impact of genome-wide association studies on biomedical research publications. PMID:30103832
Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study. PMID:30103784
Scaling up data curation using deep learning: An application to literature triage in genomic variation resources. PMID:30102703
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
A One-Penny Imputed Genome from Next-Generation Reference Panels. PMID:30100085
Genetic architecture of gene expression traits across diverse populations. PMID:30096133
AMPK activation negatively regulates GDAP1, which influences metabolic processes and circadian gene expression in skeletal muscle. PMID:30093355
Gene editing in the context of an increasingly complex genome. PMID:30086710
Evolutionary history and adaptation of a human pygmy population of Flores Island, Indonesia. PMID:30072539
Complex Haplotypes of GSTM1 Gene Deletions Harbor Signatures of a Selective Sweep in East Asian Populations. PMID:30061374
Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline. PMID:30060743
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. PMID:30054458
Using Multi-Scale Genetic, Neuroimaging and Clinical Data for Predicting Alzheimer's Disease and Reconstruction of Relevant Biological Mechanisms. PMID:30042519
Biology and Clinical Implications of the 19q13 Aggressive Prostate Cancer Susceptibility Locus. PMID:30033361
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk. PMID:30013180
Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians. PMID:30002074
Prioritization and functional assessment of noncoding variants associated with complex diseases. PMID:29996888
Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis. PMID:29995946
The Limits and Potential Future Applications of Personalized Medicine to Prevent Complex Chronic Disease. PMID:29969575
Systematic approach demonstrates enrichment of multiple interactions between non-HLA risk variants and HLA-DRB1 risk alleles in rheumatoid arthritis. PMID:29967194
Six novel susceptibility loci for coronary artery disease and cerebral infarction identified by longitudinal exome-wide association studies in a Japanese population. PMID:29963304
Identification of nine novel loci related to hematological traits in a Japanese population. PMID:29958078
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. PMID:29942086
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes. PMID:29930244
Family History of MI, Smoking, and Risk of Periodontal Disease. PMID:29928831
Using Gene Expression to Annotate Cardiovascular GWAS Loci. PMID:29922679
Performance of epistasis detection methods in semi-simulated GWAS. PMID:29914375
Genetics of Cardiovascular Disease: Fishing for Causality. PMID:29911105
Genes Whose Gain or Loss-Of-Function Increases Skeletal Muscle Mass in Mice: A Systematic Literature Review. PMID:29910734
Systems Analyses Reveal Physiological Roles and Genetic Regulators of Liver Lipid Species. PMID:29909277
Genetic Regulation of Plasma Lipid Species and Their Association with Metabolic Phenotypes. PMID:29909275
Gene-environment interactions in case-control studies with silent disease. PMID:29896809
Common Methods for Performing Mendelian Randomization. PMID:29892602
Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research. PMID:29889665
snpEnrichR: analyzing co-localization of SNPs and their proxies in genomic regions. PMID:29878048
Whole-genome association study of antibody response to Epstein-Barr virus in an African population: a pilot. PMID:29868224
The search for gene-gene interactions in genome-wide association studies: challenges in abundance of methods, practical considerations, and biological interpretation. PMID:29862246
Patient Similarity Networks for Precision Medicine. PMID:29860027
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs. PMID:29855537
Word-of-Mouth Innovation: Hypothesis Generation for Supplement Repurposing based on Consumer Reviews. PMID:29854134
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden. PMID:29849176
Long genes linked to autism spectrum disorders harbor broad enhancer-like chromatin domains. PMID:29848492
Adaptive Landscape of Protein Variation in Human Exomes. PMID:29846678
From genome-wide associations to candidate causal variants by statistical fine-mapping. PMID:29844615
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. PMID:29808027
Genetic-Driven Druggable Target Identification and Validation. PMID:29803319
Biological Processes Modulating Longevity across Primates: A Phylogenetic Genome-Phenome Analysis. PMID:29788292
GlobAl Distribution of GEnetic Traits (GADGET) web server: polygenic trait scores worldwide. PMID:29788182
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. PMID:29785010
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative. PMID:29779563
GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits. PMID:29771388
Evaluating the potential role of pleiotropy in Mendelian randomization studies. PMID:29771313
Gene regulation in the 3D genome. PMID:29767704
Systems Pharmacology-Based Approach of Connecting Disease Genes in Genome-Wide Association Studies with Traditional Chinese Medicine. PMID:29765977
Habitual coffee consumption and cognitive function: a Mendelian randomization meta-analysis in up to 415,530 participants. PMID:29760501
SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine. PMID:29757393
Novel functional variants at the GWAS-implicated loci might confer risk to major depressive disorder, bipolar affective disorder and schizophrenia. PMID:29745862
The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review. PMID:29740579
Pathway perturbations in signaling networks: Linking genotype to phenotype. PMID:29738884
PregOMICS-Leveraging systems biology and bioinformatics for drug repurposing in maternal-child health. PMID:29726581
Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese. PMID:29706348
The Emerging Immunogenetic Architecture of Schizophrenia. PMID:29701842
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. PMID:29700473
Genome-wide association for testis weight in the diversity outbred mouse population. PMID:29691636
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases. PMID:29686387
Implications of publicly available genomic data resources in searching for therapeutic targets of obesity and type 2 diabetes. PMID:29674722
Assessing known chronic kidney disease associated genetic variants in Saudi Arabian populations. PMID:29665793
Association of the independent polymorphisms in CDKN2A with susceptibility of acute lymphoblastic leukemia. PMID:29654170
Pleiotropic mapping and annotation selection in genome-wide association studies with penalized Gaussian mixture models. PMID:29635306
Comparison of phasing strategies for whole human genomes. PMID:29621242
Analysis of circulating angiopoietin-like protein 3 and genetic variants in lipid metabolism and liver health: the DiOGenes study. PMID:29619113
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger. PMID:29606303
Systematic Evaluation of Molecular Networks for Discovery of Disease Genes. PMID:29605183
Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece. PMID:29596374
GCAT|Genomes for life: a prospective cohort study of the genomes of Catalonia. PMID:29593016
GENEASE: real time bioinformatics tool for multi-omics and disease ontology exploration, analysis and visualization. PMID:29590301
Sequential regulatory activity prediction across chromosomes with convolutional neural networks. PMID:29588361
Genetic variants in mRNA untranslated regions. PMID:29582564
Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases. PMID:29579191
Where to search top-K biomedical ontologies? PMID:29579141
A comprehensive catalog of predicted functional upstream open reading frames in humans. PMID:29562350
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. PMID:29556235
Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project. PMID:29551419
Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women. PMID:29545823
Impact of atopy on risk of glioma: a Mendelian randomisation study. PMID:29540232
Novel candidate genes important for asthma and hypertension comorbidity revealed from associative gene networks. PMID:29504915
Novel and Haplotype Specific MicroRNAs Encoded by the Major Histocompatibility Complex. PMID:29497078
Genetic risk for Alzheimer's disease is concentrated in specific macrophage and microglial transcriptional networks. PMID:29482603
Updates on Genome-Wide Association Findings in Eating Disorders and Future Application to Precision Medicine. PMID:29473515
Unexplored therapeutic opportunities in the human genome. PMID:29472638
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog. PMID:29448949
araGWAB: Network-based boosting of genome-wide association studies in Arabidopsis thaliana. PMID:29440686
Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome. PMID:29439659
Breast cancer family history and allele-specific DNA methylation in the legacy girls study. PMID:29436922
Toward a Tiered Model to Share Clinical Trial Data and Samples in Precision Oncology. PMID:29435448
A transcriptomic atlas of aged human microglia. PMID:29416036
Integrating eQTL data with GWAS summary statistics in pathway-based analysis with application to schizophrenia. PMID:29411426
Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate. PMID:29403086
The pharmacoepigenomics informatics pipeline defines a pathway of novel and known warfarin pharmacogenomics variants. PMID:29400612
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors. PMID:29396371
Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort. PMID:29391395
Lnc2Catlas: an atlas of long noncoding RNAs associated with risk of cancers. PMID:29382910
Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning. PMID:29382849
Another Round of "Clue" to Uncover the Mystery of Complex Traits. PMID:29370075
Moving towards a molecular taxonomy of autoimmune rheumatic diseases. PMID:29362467
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. PMID:29358629
Genome-wide association study of self-reported food reactions in Japanese identifies shrimp and peach specific loci in the HLA-DR/DQ gene region. PMID:29348432
Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk. PMID:29348297
Implementing genome-driven personalized cardiology in clinical practice. PMID:29343412
Identification of three genetic variants as novel susceptibility loci for body mass index in a Japanese population. PMID:29341862
Lessons from ten years of genome-wide association studies of asthma. PMID:29333270
Type 1 diabetes genome-wide association studies: not to be lost in translation. PMID:29333267
Genome-wide meta-analyses of stratified depression in Generation Scotland and UK Biobank. PMID:29317602
The Porphyromonas gingivalis/Host Interactome Shows Enrichment in GWASdb Genes Related to Alzheimer's Disease, Diabetes and Cardiovascular Diseases. PMID:29311898
PGA: post-GWAS analysis for disease gene identification. PMID:29300829
The interaction of fat mass and obesity associated gene polymorphisms and dietary fiber intake in relation to obesity phenotypes. PMID:29273742
Enhancing the Promise of Drug Repositioning through Genetics. PMID:29270124
Association of Pancreatic Cancer Susceptibility Variants with Risk of Breast Cancer in Women of European and African Ancestry. PMID:29254938
Perivascular neurotransmitters: Regulation of cerebral blood flow and role in primary headaches. PMID:29251523
Lessons from CKD-Related Genetic Association Studies-Moving Forward. PMID:29242368
Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution. PMID:29220676
Combination of 247 Genome-Wide Association Studies Reveals High Cancer Risk as a Result of Evolutionary Adaptation. PMID:29220501
Local ancestry transitions modify snp-trait associations. PMID:29218902
Breast cancer: The translation of big genomic data to cancer precision medicine. PMID:29215763
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. PMID:29191242
Identification of genes associated with susceptibility to Mycobacterium avium ssp. paratuberculosis (Map) tissue infection in Holstein cattle using gene set enrichment analysis-SNP. PMID:29185027
Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease. PMID:29162850
Prioritizing diversity in human genomics research. PMID:29151588
Identification of Pleiotropic Cancer Susceptibility Variants from Genome-Wide Association Studies Reveals Functional Characteristics. PMID:29150481
rSNPBase 3.0: an updated database of SNP-related regulatory elements, element-gene pairs and SNP-based gene regulatory networks. PMID:29140525
MeT-DB V2.0: elucidating context-specific functions of N6-methyl-adenosine methyltranscriptome. PMID:29126312
DrugBank 5.0: a major update to the DrugBank database for 2018. PMID:29126136
Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. PMID:29124443
VarCards: an integrated genetic and clinical database for coding variants in the human genome. PMID:29112736
Multiethnic polygenic risk scores improve risk prediction in diverse populations. PMID:29110330
Orchid: a novel management, annotation and machine learning framework for analyzing cancer mutations. PMID:29106441
COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression. PMID:29092026
Concise Review: Epigenetic Regulation of Hematopoiesis: Biological Insights and Therapeutic Applications. PMID:29080249
Overcoming Obstacles to Drug Repositioning in Japan. PMID:29075191
Genome Variation Map: a data repository of genome variations in BIG Data Center. PMID:29069473
Cross-Cancer Analysis Reveals Novel Pleiotropic Associations-Letter. PMID:29066516
The AraGWAS Catalog: a curated and standardized Arabidopsis thaliana GWAS catalog. PMID:29059333
Cellular network perturbations by disease-associated variants. PMID:29057377
Finding the Sources of Missing Heritability within Rare Variants Through Simulation. PMID:29051702
Locally epistatic models for genome-wide prediction and association by importance sampling. PMID:29041917
Variation and Functional Impact of Neanderthal Ancestry in Western Asia. PMID:29040546
Database Resources of the BIG Data Center in 2018. PMID:29036542
PancanQTL: systematic identification of cis-eQTLs and trans-eQTLs in 33 cancer types. PMID:29036324
Multiobjective differential evolution-based multifactor dimensionality reduction for detecting gene-gene interactions. PMID:28993686
Blood Pressure Genetic Risk Score Predicts Blood Pressure Responses to Dietary Sodium and Potassium: The GenSalt Study (Genetic Epidemiology Network of Salt Sensitivity). PMID:28993450
Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk. PMID:28985495
Genetic aetiology of glycaemic traits: approaches and insights. PMID:28977447
LDassoc: an online tool for interactively exploring genome-wide association study results and prioritizing variants for functional investigation. PMID:28968746
SNPDelScore: combining multiple methods to score deleterious effects of noncoding mutations in the human genome. PMID:28968739
FIRE: functional inference of genetic variants that regulate gene expression. PMID:28961785
Analysis of chromatin accessibility in human epidermis identifies putative barrier dysfunction-sensing enhancers. PMID:28953906
Genetic susceptibility to infectious diseases: Current status and future perspectives from genome-wide approaches. PMID:28951201
Evolutionarily derived networks to inform disease pathways. PMID:28944497
Emerging Opportunities for Target Discovery in Rare Cancers. PMID:28938087
Systematic integration of biomedical knowledge prioritizes drugs for repurposing. PMID:28936969
Whole blood gene expression and white matter Hyperintensities. PMID:28923099
HbA1c for type 2 diabetes diagnosis in Africans and African Americans: Personalized medicine NOW! PMID:28898251
RNA expression in human retina. PMID:28854577
Human Retrotransposon Insertion Polymorphisms Are Associated with Health and Disease via Gene Regulatory Phenotypes. PMID:28824558
The Three-Dimensional Organization of Mammalian Genomes. PMID:28783961
Re-evaluating Strategies to Define the Immunoregulatory Roles of miRNAs. PMID:28666937
Gene2Function: An Integrated Online Resource for Gene Function Discovery. PMID:28663344
GWAB: a web server for the network-based boosting of human genome-wide association data. PMID:28449091
Blood type, ABO genetic variants, and ovarian cancer survival. PMID:28448592
Genome-wide association study of sepsis in extremely premature infants. PMID:28283553
Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study. PMID:28233817
Systematic mapping of functional enhancer-promoter connections with CRISPR interference. PMID:27708057
Current Applications of Genetic Risk Scores to Cardiovascular Outcomes and Subclinical Phenotypes. PMID:26269782
Genetic variation in uncontrolled childhood asthma despite ICS treatment. PMID:25963336
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More detailed information about this field from each metasource.
genome-wide association study
metasource: Fairsharing.org
version: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
single nucleotide polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
gwas study
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
dna polymorphism
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
mapping
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
data integration and warehousing
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103
Tags
More detailed information about this field from each metasource.
genome-wide association study
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
single nucleotide polymorphism
metasource: Fairsharing.orgversion: FAIRsharing.org: GWAS Catalog; Genome-Wide Association Studies Catalog; DOI: https://doi.org/10.25504/FAIRsharing.blUMRx; Last edited: Feb. 11, 2020, 9:11 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
gwas study
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
dna polymorphism
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
mapping
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
data integration and warehousing
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:24:07.713103
genome-wide association study single nucleotide polymorphism gwas study dna polymorphism mapping data integration and warehousing rare diseases
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