The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
- Authors
- MacArthur, Jacqueline; Bowler, Emily; Cerezo, Maria; Gil, Laurent; Hall, Peggy; Hastings, Emma; Junkins, Heather; McMahon, Aoife; Milano, Annalisa; Morales, Joannella; Pendlington, Zoe May; Welter, Danielle; Burdett, Tony; Hindorff, Lucia; Flicek, Paul; Cunningham, Fiona; Parkinson, Helen
- Year
- 2017
- Journal
- Nucleic acids research
- PMID
- 27899670
- DOI
- 10.1093/nar/gkw1133
- PMCID
- PMC5210590
The NHGRI-EBI GWAS Catalog has provided data from published genome-wide association studies since 2008. In 2015, the database was redesigned and relocated to EMBL-EBI. The new infrastructure includes a new graphical user interface (www.ebi.ac.uk/gwas/), ontology supported search functionality and an improved curation interface. These developments have improved the data release frequency by increasing automation of curation and providing scaling improvements. The range of available Catalog data has also been extended with structured ancestry and recruitment information added for all studies. The infrastructure improvements also support scaling for larger arrays, exome and sequencing studies, allowing the Catalog to adapt to the needs of evolving study design, genotyping technologies and user needs in the future.
A composite diagram showing association and trait search results for ‘cardiovascular disease’ visualized in the user interface and on the GWAS Diagram. http://www.ebi.ac.uk/gwas/search?query=cardiovascular%20disease. The diagram can be reached from http://www.ebi.ac.uk/gwas/diagram.
LLM interpretation
This figure is a composite screenshot of the GWAS Catalog user interface showing search results for "cardiovascular disease." It features a data table listing genetic associations with columns for SNP, p-value, location, and reported traits, alongside a "Catalog traits" table. At the bottom, a GWAS Diagram provides a genomic visualization of these associations mapped across chromosomes.
Increasing complexity of GWAS studies over time (A) number of SNP-by-environment interaction studies, (B) number of SNP-by-SNP interaction publications, (C) number of traits per publication, (D) number of ancestry categories each GWAS publication analyzed and (E) number of GWAS analyses per publication. Values were normalized to provide equal weighting to each category.
LLM interpretation
This is a stacked area chart showing the increasing complexity of GWAS studies from 2005 to 2016. The y-axis represents normalized values, while the x-axis tracks time in years. Five categories are plotted (labeled a through e), all of which show a general upward trend in frequency or volume over the observed period.
| Name | Type |
|---|---|
| acute myeloid leukemia | phenotype |
| age-related macular degeneration | phenotype |
| ancestry category local | cohort |
| breast cancer | phenotype |
| cancer | phenotype |
| cardiovascular disease | phenotype |
| complex diseases | phenotype |
| congenital heart disease | phenotype |
| coronary artery disease | phenotype |
| Crohn's disease | phenotype |
| esophageal cancer | phenotype |
| Ewing sarcoma local | phenotype |
| genetic loci | cohort |
| GWAS | cohort |
| haplotype | variant |
| inflammatory bowel disease | phenotype |
| myocardial infarction | phenotype |
| seven common diseases local | phenotype |
| SNP | cohort |
| trait | phenotype |
| type 1 diabetes | phenotype |
| type 2 diabetes | phenotype |
| ulcerative colitis | phenotype |
No uploaded files.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Absence of autoantibodies linked to cancer and autoimmune disorders 26 weeks after BNT162b2 boosting in CoronaVac- primed individuals. | Mat Yassim AS et al. | — | 2026 | → |
| A novel simulation tool for low-coverage whole-genome sequencing using multivariate Gaussian mixture models. | Chen KY et al. | — | 2026 | → |
| Autism Heterogeneity Related to Preterm Birth: Multi-Ancestry Results From the Simons Foundation Powering Autism Research for Knowledge Sample. | Chatzigeorgiou C et al. | — | 2026 | → |
| Cross-phenotype genome-wide association study supports shared genetic etiology between skin and gastrointestinal tract diseases. | Peng B et al. | — | 2026 | → |
| Differential Impact of BMI-Associated Genetic Variants on Breast Cancer Risk: Insights From Mediation Analysis. | Ando Y et al. | — | 2026 | → |
| Dissecting pleiotropy to gain mechanistic insights into human disease. | Jee YH et al. | — | 2026 | → |
| eQTL analysis: A bridge from genome to mechanism. | Jia Z et al. | — | 2026 | → |
| Estradiol treatment induces both shared and unique gene regulation and networks in adipose cell types of gonadectomized obese XX and XY mice. | Zhao Y et al. | — | 2026 | → |
| Functional dissection of complex trait variants at single-nucleotide resolution. | Siraj L et al. | — | 2026 | → |
| Genetic dissection of serum pro-neurotensin suggests potential causal impact on brain structure. | Breitfeld J et al. | — | 2026 | → |
| Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation. | Yuan J et al. | — | 2026 | → |
| Genome-wide cross-trait analyses reveal shared genetic architecture and causal links between attention-deficit/hyperactivity disorder and cardiovascular diseases. | Liu HY et al. | — | 2026 | → |
| GWAS and Replication Analysis of Apparent Treatment-Resistant Hypertension. | Ebinger JE et al. | — | 2026 | → |
| HLA Class II Protein Expression Regulation Is Strongly Linked to Cis-Acting SNPs. | Vince N et al. | — | 2026 | → |
| Impacts of host genetics on gut microbiome composition in Alzheimer's disease. | Liu J et al. | — | 2026 | → |
| In-silico identification of genetic variants associated with chronic lymphocytic leukemia for diagnostic and therapeutic applications. | Islam MS et al. | — | 2026 | → |
| Integrative machine learning approach to risk prediction for dementia and Alzheimer's disease. | Stern A et al. | — | 2026 | → |
| LiMA: Robust inference of molecular mediation from summary statistics. | Lepik K et al. | — | 2026 | → |
| Meta-analysis of genetic mapping studies in mice reveals candidate epilepsy modifier genes that are outside the current drug development landscape. | Durante GL et al. | — | 2026 | → |
| MRBEE-TL: improving causal effect estimation in multi-ancestry multivariable Mendelian randomization with transfer learning. | Yang Y et al. | — | 2026 | → |
| Multiple-testing corrections in case-control studies using identity-by-descent segments. | Temple SD et al. | — | 2026 | → |
| Multiple trait association analysis revealed common genetic loci between lung cancer and heart failure. | Mu L et al. | — | 2026 | → |
| Multi-tissue multi-omics integration reveals tissue-specific pathways, gene networks and drug candidates for type 1 diabetes. | Blencowe M et al. | — | 2026 | → |
| Opportunities for RNA sequencing in physiology: from big data to understanding homeostasis and heterogeneity. | Prokop JW et al. | — | 2026 | → |
| Risk-based screening for early detection of colorectal cancer: an overview. | Brück CC et al. | — | 2026 | → |
| Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome. | Di H et al. | — | 2026 | → |
| Single-cell transcriptome-wide Mendelian randomization during CD4<sup>+</sup> T cell activation reveals immune-mediated mechanisms and drug targets for neuropsychiatric disorders. | Zhang H et al. | — | 2026 | → |
| Spatial perturb-seq: single-cell functional genomics within intact tissue architecture. | Shen K et al. | — | 2026 | → |
| The CFDE Workbench: Integrating Metadata and Processed Data from Common Fund Programs. | Evangelista JE et al. | — | 2026 | → |
| The gene expression landscape of disease genes. | García-González J et al. | — | 2026 | → |
| The genetic landscape of human functional brain connectivity. | Maciel BA et al. | — | 2026 | → |
| The potential effect and pathway of valsartan: genome-wide and phenome-wide association study from UK Biobank data. | Zeng S et al. | — | 2026 | → |
| The RNA-binding protein HuR modulates the expression of the disease-linked <i>CCL2</i> rs1024611G-rs13900T haplotype. | Akhtar F et al. | — | 2026 | → |
| The role of immune cell phenotypes and metabolites in bipolar disorder risk: a Mendelian randomization-based mediation analysis. | Zhou X et al. | — | 2026 | → |
| Unveiling the glymphatic system's role in brain aging: A comprehensive biomarker and modifiable intervention target. | Fang Y et al. | — | 2026 | → |
| A comprehensive evaluation of candidate genetic polymorphisms in a large histologically characterized MASLD cohort using a novel framework. | Hakim A et al. | — | 2025 | → |
| A computational reference for human genomics analysis in (poly)phenol research. | Treccani M et al. | — | 2025 | → |
| A genome-wide meta-analysis reveals shared and population-specific variants for allergic sensitization. | Noguchi E et al. | — | 2025 | → |
| Artificial intelligence in precision medicine: transforming disease subtyping, medical imaging, and pharmacogenomics. | Rodriguez-Martinez A et al. | — | 2025 | → |
| A systematic review of GWAS on CMR imaging traits: genetic insights into cardiovascular structure, function, and diseases. | Lakda S et al. | — | 2025 | → |
| Bidirectional causal relationship between depression and Type 2 diabetes: a multi-ancestry and sex stratified Mendelian Randomization analysis. | Liu HY et al. | — | 2025 | → |
| Canine genome-wide association study identifies <i>DENND1B</i> as an obesity gene in dogs and humans. | Wallis NJ et al. | — | 2025 | → |
| Capturing cell-type-specific activities of cis-regulatory elements from peak-based single-cell ATAC-seq. | Chen M | — | 2025 | → |
| Causal associations of single anthropometric measures and body shape with nonalcoholic fatty liver disease: A Mendelian randomization study. | Zhai C et al. | — | 2025 | → |
| Childhood obesity influences mid-to-late life bone health through shared genetic architecture. | Xia M et al. | — | 2025 | → |
| Classification of schizophrenia, bipolar disorder and major depressive disorder with comorbid traits and deep learning algorithms. | Chen X et al. | — | 2025 | → |
| Comparative analysis of 105 datasets across species and tissues reveals differential transcriptomic responses to cannabinoids THC and CBD. | Liu R et al. | — | 2025 | → |
| Complex genetic interactions affect susceptibility to Alzheimer's disease risk in the BIN1 and MS4A6A loci. | Nazarian A et al. | — | 2025 | → |
| Comprehensive mapping of genetic variation at Epromoters reveals pleiotropic association with multiple disease traits. | Wan J et al. | — | 2025 | → |
| Computational investigations into structure and function impact of novel mutations identified in targeted exons from ovarian cancer cell lines. | Wadapurkar RM et al. | — | 2025 | → |
| Computational strategies in nutrigenetics: Constructing a reference dataset of nutrition-associated genetic polymorphisms. | De Filippis GM et al. | — | 2025 | → |
| Cost-effective non-additive GWAS across 2329 diseases in 500,349 individuals. | Molotkov I et al. | — | 2025 | → |
| Deep adversarial learning identifies ADHD-specific associations between apoptotic genes and white matter microstructure in frontal-striatum-cerebellum circuit. | Zhao Y et al. | — | 2025 | → |
| Differential methylation in blood pressure control genes is associated to essential hypertension in African Brazilian populations. | Avila Martins CC et al. | — | 2025 | → |
| Dissecting regulatory non-coding GWAS loci reveals fibroblast causal genes with pathophysiological relevance to heart failure. | Gill R et al. | — | 2025 | → |
| Divide and conquer approach for genome-wide association studies. | Özkaraca Mİ et al. | — | 2025 | → |
| Enhancer RNA Transcriptome-Wide Association Study Reveals a Distinctive Class of Pan-Cancer Susceptibility eRNAs. | Chen W et al. | — | 2025 | → |
| Ephrin-B2 deletion in GABAergic neurons induces cognitive deficits associated with single-nucleus transcriptomic differences in the prefrontal cortex. | Ju P et al. | — | 2025 | → |
| Estimating effects of serum vitamin B12 levels on psychiatric disorders and cognitive impairment: a Mendelian randomization study. | Lu T et al. | — | 2025 | → |
| Evaluating the nonlinear effects of sleep duration on biological aging across phenotypic, genomic, and epigenomic data. | Wu X et al. | — | 2025 | → |
| Exploiting pleiotropy to enhance variant discovery with functional false discovery rates. | Bass AJ et al. | — | 2025 | → |
| Exploring Genetic Markers for Cold-Heat Patterns: Integrating Traditional Medicine With Modern Genomic Research. | Jeong S et al. | — | 2025 | → |
| Exploring the Efficacy and Target Genes of <i>Atractylodes Macrocephala Koidz</i> Against Alzheimer's Disease Based on Multi-Omics, Computational Chemistry, and Experimental Verification. | Zheng Y et al. | — | 2025 | → |
| Fibroblast growth factor 18 stimulates chondrocyte proliferation by modulating FOXN2 to mitigate post-traumatic osteoarthritis in a mouse model. | Huang Z et al. | — | 2025 | → |
| From rare to more common: The emerging role of omics in improving understanding and treatment of severe inflammatory and hyperinflammatory conditions. | Keskitalo S et al. | — | 2025 | → |
| Genetic association of long non-coding RNA ANRIL polymorphism with the risk of type 2 diabetes mellitus in the Chinese Han population. | Li X et al. | — | 2025 | → |
| Genetic, clinical, lifestyle and sociodemographic risk factors for head and neck cancer: A UK Biobank study. | Tuomi L et al. | — | 2025 | → |
| Genetic Control of tRNA-Derived Fragments Contributes to Cancer Risk. | Li B et al. | — | 2025 | → |
| Genetic Polymorphisms and Gene-Environment Interactions in Persistent Post-Stroke Depression. | Lan Y et al. | — | 2025 | → |
| Genetic Susceptibility to Acute Viral Bronchiolitis. | Pasanen A et al. | — | 2025 | → |
| Genome- and transcriptome-wide association meta-analysis reveals new insights into genes affecting coronary and peripheral artery disease. | Rode M et al. | — | 2025 | → |
| Genome data based deep learning identified new genes predicting pharmacological treatment response of attention deficit hyperactivity disorder. | Zhao Y et al. | — | 2025 | → |
| Genome topology analysis and transcriptomics of human osteoclasts reveals enhancer-promoter interactions at loci for bone traits and diseases. | Wilson SG et al. | — | 2025 | → |
| Genome-wide and phenome-wide studies provided insights into brain glymphatic system function and its clinical associations. | Ran L et al. | — | 2025 | → |
| Genome-wide association analysis revealed novel candidate genes for body measurement traits in indigenous Gudali and crossbred Simgud in Cameroon. | Matenchi YP et al. | — | 2025 | → |
| Genome-wide association study unravels mechanisms of brain glymphatic activity. | Huang SY et al. | — | 2025 | → |
| Genomic Correlations, Shared Loci, and Drug Targets Between Polycystic Ovary Syndrome and Asthma: Insights From Genome-wide Association Analysis. | Ji E et al. | — | 2025 | → |
| Genomic landscape of cancer in racially and ethnically diverse populations. | Thomas CE et al. | — | 2025 | → |
| Gut microbiota and risk of cervical cancer: a Mendelian multivariable randomization study. | Lu L et al. | — | 2025 | → |
| Highly accurate Korean draft genomes reveal structural variation highlighting human telomere evolution. | Kim J et al. | — | 2025 | → |
| Identification of Key Genes and Pathways Associated with Frailty and Exercise Effects Using a Network and Evolutionary Approach. | Naito K et al. | — | 2025 | → |
| Identification of the shortest species-specific oligonucleotide sequences. | Mouratidis I et al. | — | 2025 | → |
| Identification of TNR as a Potential Hippocampal Biomarker of Novelty Seeking Behavior with Integrated Quantitative Proteomics and Systems Genetics Approaches. | Liu J et al. | — | 2025 | → |
| Integrated Omics and Multicohort Analyses Identify an Enhancer Variant Linking Ferroptosis to Precision Therapy in Prostate Cancer. | Ma S et al. | — | 2025 | → |
| Investigating the causal relationships between attention-deficit/hyperactivity disorder and autoimmune diseases: Evidence from Mendelian randomization study. | Zhou Y et al. | — | 2025 | → |
| Investigating the Shared Genetic Architecture Between Leukocyte Telomere Length and Prostate Cancer. | Li Z et al. | — | 2025 | → |
| Leveraging transcriptome-wide association studies identifies the relationship between upper respiratory flora and cell type-specific gene expression in severe respiratory disease. | Xu L et al. | — | 2025 | → |
| Lung cancer and COVID-19 susceptibility and severity: a Mendelian randomization analysis. | Bai M et al. | — | 2025 | → |
| Maternal and Parent-of-Origin Gene-Environment Effects on the Etiology of Orofacial Clefting. | Rasevic N et al. | — | 2025 | → |
| Mood instability and 22 gastrointestinal disorders: investigating the causal relationships and the mediating factors by Mendelian randomization analysis. | Yan F et al. | — | 2025 | → |
| Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations. | Greene CA et al. | — | 2025 | → |
| Multi-dimensional evidence from the UK Biobank shows the impact of diet and macronutrient intake on aging. | Zhu C et al. | — | 2025 | → |
| Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability. | Su JY et al. | — | 2025 | → |
| Multivariate genome-wide analysis reveals shared genetic architecture and brain structural correlates of human cognitive abilities. | Chen H et al. | — | 2025 | → |
| Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples. | Añorve-Garibay V et al. | — | 2025 | → |
| Novel Insights From In Silico Analysis of Biallelic ALPL (c.1001G/A and c.571G/A) in Two Mennonite Families Leading to Hypophosphatasia. | Salinas-Torres VM et al. | — | 2025 | → |
| Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions. | Goldberg SR et al. | — | 2025 | → |
| Pharmacoepigenomics in Personalized Medicine: A Hypothesis-Generating Approach to Introduce CpG-PGx SNPs as New Candidates for a Systematic Insight into Genomic-Epigenomic-Phenomic-Pharmacogenomics (G-E-Ph-PGx) Axis. | Sharafshah A et al. | — | 2025 | → |
| Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer. | Santiago LR et al. | — | 2025 | → |
| Prioritization of causal genes from genome-wide association studies by Bayesian data integration across loci. | Mousavi Z et al. | — | 2025 | → |
| Shared genetics of lung cancer and type 2 diabetes: a large-scale genome-wide cross-trait analysis. | Wang Z et al. | — | 2025 | → |
| The Genomics Preprint Club: rethinking peer review through community and dialogue. | García-González J et al. | — | 2025 | → |
| The REpeated ASSEssment of SurvivorS in intracerebral haemorrhage: protocol for a multicentre, prospective observational study. | Ziai W et al. | — | 2025 | → |
| Time-resolved Mendelian randomization detects substantial variation in the detrimental effect of obesity throughout life. | Karlsson T et al. | — | 2025 | → |
| Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease. | Cao X et al. | — | 2025 | → |
| Transcriptome-wide association study identifies genes associated with bladder cancer risk. | Li S et al. | — | 2025 | → |
| Treating Cardiovascular Disorders with Personalized Medicine. | Garg I et al. | — | 2025 | → |
| Tumor Mutations in Minority Populations Versus Non-Hispanic Whites Across Tumor Types. | Coy J et al. | — | 2025 | → |
| Unraveling the Genetic Architecture of Obesity: A Path to Personalized Medicine. | Kunnathodi F et al. | — | 2025 | → |
| Unraveling the Shared Genetic Architecture and Polygenic Overlap Between Loneliness, Major Depressive Disorder, and Sleep-Related Traits. | Rehman Z et al. | — | 2025 | → |
| Unveiling causal regulatory mechanisms through cell-state parallax. | Wu AP et al. | — | 2025 | → |
| Using clustering of genetic variants in Mendelian randomization to interrogate the causal pathways underlying multimorbidity from a common risk factor. | Liang X et al. | — | 2025 | → |
| 18th International HLA and Immunogenetics Workshop: Report on the SNP-HLA Reference Consortium (SHLARC) component. | Silva NSB et al. | — | 2024 | → |
| Accurate multi-population imputation of MICA, MICB, HLA-E, HLA-F and HLA-G alleles from genome SNP data. | Tammi S et al. | — | 2024 | → |
| A comprehensive framework for trans-ancestry pathway analysis using GWAS summary data from diverse populations. | Fu S et al. | — | 2024 | → |
| A comprehensive genome-wide cross-trait analysis of sexual factors and uterine leiomyoma. | Wu X et al. | — | 2024 | → |
| A cross-disease resource of living human microglia identifies disease-enriched subsets and tool compounds recapitulating microglial states. | Tuddenham JF et al. | — | 2024 | → |
| Adaptive Evolution of Two Distinct Adaptive Haplotypes of Neanderthal Origin at the Immunoglobulin Heavy-chain Locus in East Asian and European Populations. | Ma X et al. | — | 2024 | → |
| Advancing Regulatory Genomics With Machine Learning. | Bréhélin L | — | 2024 | → |
| A holistic approach to understanding immune-mediated inflammatory diseases: bioinformatic tools to integrate omics data. | Borrego-Yaniz G et al. | — | 2024 | → |
| Allele frequency impacts the cross-ancestry portability of gene expression prediction in lymphoblastoid cell lines. | Saitou M et al. | — | 2024 | → |
| A multi-ethnic reference panel to impute HLA classical and non-classical class I alleles in admixed samples: Testing imputation accuracy in an admixed sample from Brazil. | Silva NSB et al. | — | 2024 | → |
| An atlas of genetic effects on cellular composition of the tumor microenvironment. | Cai Y et al. | — | 2024 | → |
| A polygenic score associated with fracture risk in breast cancer patients treated with aromatase inhibitors. | Hook C et al. | — | 2024 | → |
| A powerful approach to identify replicable variants in genome-wide association studies. | Li Y et al. | — | 2024 | → |
| A prevalent caveolin-1 gene rs926198 variant is associated with type 2 diabetes mellitus in the Thai population. | Yaikwawong M et al. | — | 2024 | → |
| A primer on the use of machine learning to distil knowledge from data in biological psychiatry. | Quinn TP et al. | — | 2024 | → |
| Bayesian genome-wide TWAS with reference transcriptomic data of brain and blood tissues identified 141 risk genes for Alzheimer's disease dementia. | Guo S et al. | — | 2024 | → |
| Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References. | Taylor DJ et al. | — | 2024 | → |
| Bias and mean squared error in Mendelian randomization with invalid instrumental variables. | Deng L et al. | — | 2024 | → |
| Blood groups and Rhesus status as potential predictors of outcomes in patients with cardiac resynchronisation therapy. | Papageorgiou N et al. | — | 2024 | → |
| Causal associations and shared genetic etiology of neurodegenerative diseases with epigenetic aging and human longevity. | Guo Y et al. | — | 2024 | → |
| Causal associations between fluid intake patterns and dermatitis risk: a Mendelian randomization study. | Zeng R et al. | — | 2024 | → |
| Causal relationship between neuroticism and frailty: A bidirectional Mendelian randomization study. | Chen Q et al. | — | 2024 | → |
| Cerebrospinal and Brain Proteins Implicated in Neuropsychiatric and Risk Factor Traits: Evidence from Mendelian Randomization. | de La Harpe R et al. | — | 2024 | → |
| Comprehensive analysis of genetic risk loci uncovers novel candidate genes and pathways in the comorbidity between depression and Alzheimer's disease. | Hofstra BM et al. | — | 2024 | → |
| Deciphering the alteration of MAP2 interactome caused by a schizophrenia-associated phosphorylation. | Lyu J et al. | — | 2024 | → |
| Decoding depression: a comprehensive multi-cohort exploration of blood DNA methylation using machine learning and deep learning approaches. | Sokolov AV et al. | — | 2024 | → |
| Developing a Polygenic Risk Score with Age and Sex to Identify High-Risk Myopia in Taiwan. | Lin HJ et al. | — | 2024 | → |
| Development of a web-based high-throughput marker design program: CAPS (cleaved amplified polymorphic sequence) Maker. | Park JS et al. | — | 2024 | → |
| Effects of episodic future thinking in health behaviors for weight loss: A systematic review and meta-analysis. | Ding S et al. | — | 2024 | → |
| Eight quick tips for including chromosome X in genome-wide association studies. | Bellavance J et al. | — | 2024 | → |
| Epigenetic Regulation of Cardiomyocyte Maturation by Arginine Methyltransferase CARM1. | Garbutt TA et al. | — | 2024 | → |
| Epigenome-wide association study identifies neonatal DNA methylation associated with two-year attention problems in children born very preterm. | Camerota M et al. | — | 2024 | → |
| Epigenome-wide association study of DNA methylation in maternal blood leukocytes with BMI in pregnancy and gestational weight gain. | Opsahl JO et al. | — | 2024 | → |
| Epigenomic partitioning of a polygenic risk score for asthma reveals distinct genetically driven disease pathways. | Stikker B et al. | — | 2024 | → |
| Estimation of a genetic Gaussian network using GWAS summary data. | Yang Y et al. | — | 2024 | → |
| Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning. | Monti R et al. | — | 2024 | → |
| Exploring autism spectrum disorder and co-occurring trait associations to elucidate multivariate genetic mechanisms and insights. | Salenius K et al. | — | 2024 | → |
| Exploring noncoding variants in genetic diseases: from detection to functional insights. | Wu K et al. | — | 2024 | → |
| Exploring the causal relationship between inflammatory cytokines and immunoinflammatory dermatoses: a Mendelian randomization study. | Li J et al. | — | 2024 | → |
| Gene-based association study of rare variants in children of diverse ancestries implicates TNFRSF21 in the development of allergic asthma. | Clay S et al. | — | 2024 | → |
| Genetically predicted effects of 10 sleep phenotypes on revision of knee arthroplasty: a mendelian randomization study. | Bi Z et al. | — | 2024 | → |
| Genetic determinants of IgG antibody response to COVID-19 vaccination. | Bian S et al. | — | 2024 | → |
| Genetic determinants of plasma protein levels in the Estonian population. | Kalnapenkis A et al. | — | 2024 | → |
| Genetic Differences between Male and Female Pattern Hair Loss in a Korean Population. | Lee J et al. | — | 2024 | → |
| Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas. | Borda V et al. | — | 2024 | → |
| Genome-wide association analysis of hypertension and epigenetic aging reveals shared genetic architecture and identifies novel risk loci. | Li X et al. | — | 2024 | → |
| Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease. | Wang X et al. | — | 2024 | → |
| Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol. | Alenbawi J et al. | — | 2024 | → |
| Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration. | Ahmad S et al. | — | 2024 | → |
| Genome-wide association study of maternal plasma metabolites during pregnancy. | Liu S et al. | — | 2024 | → |
| Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy. | Yu K et al. | — | 2024 | → |
| Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology. | Naito T et al. | — | 2024 | → |
| Germline copy number variants and endometrial cancer risk. | Stylianou CE et al. | — | 2024 | → |
| Heterozygosity in factor XIII genes and the manifestation of mild inherited factor XIII deficiency. | Singh S et al. | — | 2024 | → |
| HLA variants and their association with IgE-Mediated banana allergy: A cross-sectional study. | Vichara-Anont I et al. | — | 2024 | → |
| Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis. | Xavier JM et al. | — | 2024 | → |
| Identification of candidate genes associated with milk production and mastitis based on transcriptome-wide association study. | Hosseinzadeh S et al. | — | 2024 | → |
| Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study. | Konigorski S et al. | — | 2024 | → |
| Identification of Pancreatic Cancer Germline Risk Variants With Effects That Are Modified by Smoking. | Zhu H et al. | — | 2024 | → |
| Implicating type 2 diabetes effector genes in relevant metabolic cellular models using promoter-focused Capture-C. | Wachowski NA et al. | — | 2024 | → |
| Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction. | Jung H et al. | — | 2024 | → |
| Joint regression analysis of multiple traits based on genetic relationships. | Buchardt AS et al. | — | 2024 | → |
| Machine Learning Strategies for Improved Phenotype Prediction in Underrepresented Populations. | Bonet D et al. | — | 2024 | → |
| Mendelian Randomization Studies in Atherosclerotic Cardiovascular Diseases. | Ko DS et al. | — | 2024 | → |
| Multivariate genomic analysis of 5 million people elucidates the genetic architecture of shared components of the metabolic syndrome. | Park S et al. | — | 2024 | → |
| Network medicine-based epistasis detection in complex diseases: ready for quantum computing. | Hoffmann M et al. | — | 2024 | → |
| Next-Gen GWAS: full 2D epistatic interaction maps retrieve part of missing heritability and improve phenotypic prediction. | Carré C et al. | — | 2024 | → |
| Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation. | Lo Faro V et al. | — | 2024 | → |
| Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations. | Han X et al. | — | 2024 | → |
| PWAS Hub for exploring gene-based associations of common complex diseases. | Kelman G et al. | — | 2024 | → |
| pyTWMR: transcriptome-wide Mendelian randomization in python. | Oreshkov S et al. | — | 2024 | → |
| RNA Polymerase Subunits and Ribosomal Proteins: An Overview and Their Genetic Impact on Complex Human Traits. | Ryu J et al. | — | 2024 | → |
| Rummagene: massive mining of gene sets from supporting materials of biomedical research publications. | Clarke DJB et al. | — | 2024 | → |
| Serum 25-Hydroxyvitamin D and Risk of Disability in Activities of Daily Living among the Oldest-Old: An Observational and Mendelian Randomization Study. | Li X et al. | — | 2024 | → |
| Shared Proteins and Pathways of Cardiovascular and Cognitive Diseases: Relation to Vascular Cognitive Impairment. | Zeylan ME et al. | — | 2024 | → |
| Single-housing-induced islet epigenomic changes are related to polymorphisms in diabetic KK mice. | Nammo T et al. | — | 2024 | → |
| Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B. | Plender EG et al. | — | 2024 | → |
| Systematic exploration of a decade of publications on psychiatric genetics in Latin America. | Garro-Núñez D et al. | — | 2024 | → |
| Systematic Review and Phenome-Wide Scans of Genetic Associations with Vascular Cognitive Impairment. | Diany R et al. | — | 2024 | → |
| Systems genetics of metabolic health in the BXD mouse genetic reference population. | Li X et al. | — | 2024 | → |
| The Convergence of Radiology and Genomics: Advancing Breast Cancer Diagnosis with Radiogenomics. | Demetriou D et al. | — | 2024 | → |
| The genetic basis of autoimmunity seen through the lens of T cell functional traits. | Lagattuta KA et al. | — | 2024 | → |
| There is no such a thing as a '<i>biological</i>' basis for cancer disparities: A call to end misreporting of the ultimate determinants of health outcomes. | Trapani D et al. | — | 2024 | → |
| The Role of Genetics in Managing Peripheral Arterial Disease. | Biagetti G et al. | — | 2024 | → |
| The text2term tool to map free-text descriptions of biomedical terms to ontologies. | Gonçalves RS et al. | — | 2024 | → |
| Transactivation DNA-binding protein-related genes were associated with salivary gland injury in primary Sjögren syndrome. | Zhang N et al. | — | 2024 | → |
| Transcriptomics : Approaches to Quantifying Gene Expression and Their Application to Studying the Human Brain. | Liharska L et al. | — | 2024 | → |
| Transforming Clinical Research: The Power of High-Throughput Omics Integration. | Vitorino R | — | 2024 | → |
| Type 2 diabetes and colorectal cancer: genetic causality explored via Mendelian randomization. | Ke Q et al. | — | 2024 | → |
| Unveiling a <i>TGFBI</i> Variant in the Retinal Capillary Hemangioblastoma, Type II Granular Corneal Dystrophy, and Von Hippel-Lindau Families: Unlocking Potential for Early Intervention and Targeted Therapy. | Azimi F et al. | — | 2024 | → |
| Using encrypted genotypes and phenotypes for collaborative genomic analyses to maintain data confidentiality. | Zhao T et al. | — | 2024 | → |
| Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations. | Topriceanu CC et al. | — | 2024 | → |
| What molecular allergy teaches us about genetics and epidemiology of allergies. | Biagioni B et al. | — | 2024 | → |
| 10 Years of GWAS in intraocular pressure. | Gao XR et al. | — | 2023 | → |
| 150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility. | Wu Y et al. | — | 2023 | → |
| A Case Study on PPM1D and 9 Other Shared Germline Alterations in a Family. | Biswas S et al. | — | 2023 | → |
| A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data. | Kontogianni G et al. | — | 2023 | → |
| Africa-specific human genetic variation near CHD1L associates with HIV-1 load. | McLaren PJ et al. | — | 2023 | → |
| A genome-wide association study for allergen component sensitizations identifies allergen component-specific and allergen protein group-specific associations. | Morii W et al. | — | 2023 | → |
| A genome-wide genetic screen uncovers determinants of human pigmentation. | Bajpai VK et al. | — | 2023 | → |
| Allele-specific RNA <i>N</i> <sup>6</sup>-methyladenosine modifications reveal functional genetic variants in human tissues. | Cao S et al. | — | 2023 | → |
| A missense mutation in zinc finger homeobox-3 (ZFHX3) impedes growth and alters metabolism and hypothalamic gene expression in mice. | Nolan PM et al. | — | 2023 | → |
| Ancestry-driven metabolite variation provides insights into disease states in admixed populations. | Reynolds KM et al. | — | 2023 | → |
| A network causal relationship between type-1 diabetes mellitus, 25-hydroxyvitamin D level and systemic lupus erythematosus: Mendelian randomization study. | Su K et al. | — | 2023 | → |
| An integrative pipeline for circular RNA quantitative trait locus discovery with application in human T cells. | Nguyen DT | — | 2023 | → |
| A novel CCDC91 isoform associated with ossification of the posterior longitudinal ligament of the spine works as a non-coding RNA to regulate osteogenic genes. | Nakajima M et al. | — | 2023 | → |
| An Overview of Canine Inherited Neurological Disorders with Known Causal Variants. | Cocostîrc V et al. | — | 2023 | → |
| Appraising the role of circulating concentrations of micronutrients in attention deficit hyperactivity disorder: a Mendelian randomization study. | Sui X et al. | — | 2023 | → |
| A review of genetic risk in systemic lupus erythematosus. | Guga S et al. | — | 2023 | → |
| Association of Vitamin D Genetic Risk Score with Noncommunicable Diseases: A Systematic Review. | Almaghrbi H et al. | — | 2023 | → |
| AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation. | Guthrie J et al. | — | 2023 | → |
| Bidirectional genetic overlap between autism spectrum disorder and cognitive traits. | Hope S et al. | — | 2023 | → |
| Biomarkers selection and mathematical modeling in biological age estimation. | Bafei SEC et al. | — | 2023 | → |
| Body Shape Phenotypes and Breast Cancer Risk: A Mendelian Randomization Analysis. | Peruchet-Noray L et al. | — | 2023 | → |
| Case Series of Precision Delivery of Methylprednisolone in Pediatric Inflammatory Bowel Disease: Feasibility, Clinical Outcomes, and Identification of a Vasculitic Transcriptional Program. | Levitte S et al. | — | 2023 | → |
| CenhANCER: a comprehensive cancer enhancer database for primary tissues and cell lines. | Luo ZH et al. | — | 2023 | → |
| Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). | Matalon DR et al. | — | 2023 | → |
| Complementary Alu sequences mediate enhancer-promoter selectivity. | Liang L et al. | — | 2023 | → |
| Computational screen to identify potential targets for immunotherapeutic identification and removal of senescence cells. | Deng EZ et al. | — | 2023 | → |
| Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis. | Zhou S et al. | — | 2023 | → |
| Decoding the genetic and epigenetic basis of asthma. | Stikker BS et al. | — | 2023 | → |
| Decoding the mechanism of hypertension through multiomics profiling. | Adua E | — | 2023 | → |
| Deletion mapping of regulatory elements for GATA3 in T cells reveals a distal enhancer involved in allergic diseases. | Chen HV et al. | — | 2023 | → |
| Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations. | Thareja G et al. | — | 2023 | → |
| Drinking Habits and Physical Activity Interact and Attenuate Obesity Predisposition of <i>TMEM18</i> Polymorphisms Carriers. | Chermon D et al. | — | 2023 | → |
| Effect of case and control definitions on genome-wide association study (GWAS) findings. | Isgut M et al. | — | 2023 | → |
| Epromoters are new players in the regulatory landscape with potential pleiotropic roles. | Malfait J et al. | — | 2023 | → |
| Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development. | Zheng Y et al. | — | 2023 | → |
| Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data. | Boutry S et al. | — | 2023 | → |
| Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations. | Auwerx C et al. | — | 2023 | → |
| FairPRS: adjusting for admixed populations in polygenic risk scores using invariant risk minimization. | Machado Reyes D et al. | — | 2023 | → |
| FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies. | Hecker J et al. | — | 2023 | → |
| Gene-based association study reveals a distinct female genetic signal in primary hypertension. | Zucker R et al. | — | 2023 | → |
| Gene network based analysis identifies a coexpression module involved in regulating plasma lipids with high-fat diet response. | Xu F et al. | — | 2023 | → |
| Genetic and observational associations of lung function with gastrointestinal tract diseases: pleiotropic and mendelian randomization analysis. | Jiang M et al. | — | 2023 | → |
| Genetic architecture of the white matter connectome of the human brain. | Sha Z et al. | — | 2023 | → |
| Genetic Correlation, Shared Loci, and Causal Association Between Sex Hormone-Binding Globulin and Bone Mineral Density: Insights From a Large-Scale Genomewide Cross-Trait Analysis. | Qu Y et al. | — | 2023 | → |
| Genetic Determinants of the Association between Osteoarthritis and Psychiatric Disorders. | Chen W et al. | — | 2023 | → |
| Genome-wide admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans. | Gautam Y et al. | — | 2023 | → |
| Genome-wide Association Studies Categorized by Class of Antihypertensive Drugs Reveal Complex Pathogenesis of Hypertension with Drug Resistance. | Yamazaki K et al. | — | 2023 | → |
| Genome-wide association study meta-analysis of blood pressure traits and hypertension in sub-Saharan African populations: an AWI-Gen study. | Singh S et al. | — | 2023 | → |
| Genome-wide association study of cerebellar white matter microstructure and genetic overlap with common brain disorders. | Wu BS et al. | — | 2023 | → |
| Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank. | Sugawara Y et al. | — | 2023 | → |
| GenomicKB: a knowledge graph for the human genome. | Feng F et al. | — | 2023 | → |
| GWAS Atlas: an updated knowledgebase integrating more curated associations in plants and animals. | Liu X et al. | — | 2023 | → |
| HetIG-PreDiG: A Heterogeneous Integrated Graph Model for Predicting Human Disease Genes based on gene expression. | Jagodnik KM et al. | — | 2023 | → |
| Heuristic Approach Uncovering Biological Significance of Gene-Lifestyle Interactions in Cardiometabolic Traits. | San-Cristobal R et al. | — | 2023 | → |
| Identification of Key Osteoporosis Genes Through Comparative Analysis of Men's and Women's Osteoblast Transcriptomes. | Chen D et al. | — | 2023 | → |
| Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population. | Belkadi A et al. | — | 2023 | → |
| Identifying potential ligand molecules EGFR mediated TNBC targeting the kinase domain-identification of customized drugs through <i>in silico</i> methods. | Vyshnavi H et al. | — | 2023 | → |
| <i>Homo cerevisiae</i>-Leveraging Yeast for Investigating Protein-Protein Interactions and Their Role in Human Disease. | Laval F et al. | — | 2023 | → |
| Increased body mass index is linked to systemic inflammation through altered chromatin co-accessibility in human preadipocytes. | Garske KM et al. | — | 2023 | → |
| Individual health-disease phase diagrams for disease prevention based on machine learning. | Nakamura K et al. | — | 2023 | → |
| Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization. | Lin S et al. | — | 2023 | → |
| Integrated bioinformatics and statistical approach to identify the common molecular mechanisms of obesity that are linked to the development of two psychiatric disorders: Schizophrenia and major depressive disorder | Islam MK et al. | — | 2023 | → |
| Integrated bioinformatics approach to unwind key genes and pathways involved in colorectal cancer. | Mobeen SA et al. | — | 2023 | → |
| Integrative Functional Genomics Identifies Systemic Lupus Erythematosus Causal Genetic Variant in the IRF5 Risk Locus. | Hou G et al. | — | 2023 | → |
| Integrative Post-Genome-Wide Association Study Analyses Relevant to Psychiatric Disorders: Imputing Transcriptome and Proteome Signals. | Gedik H et al. | — | 2023 | → |
| Integrative Single-Cell Analysis Reveals Transcriptional and Epigenetic Regulatory Features of Clear Cell Renal Cell Carcinoma. | Yu Z et al. | — | 2023 | → |
| Interaction Analysis Reveals Complex Genetic Associations with Alzheimer's Disease in the <i>CLU</i> and <i>ABCA7</i> Gene Regions. | Nazarian A et al. | — | 2023 | → |
| Inter- and intra-chromosomal modulators of the APOE ɛ2 and ɛ4 effects on the Alzheimer's disease risk. | Nazarian A et al. | — | 2023 | → |
| Investigating the relationship between depression and breast cancer: observational and genetic analyses. | Wu X et al. | — | 2023 | → |
| Investigation of heteroscedasticity in polygenic risk scores across 15 quantitative traits. | Jung H et al. | — | 2023 | → |
| Invited review: Good practices in genome-wide association studies to identify candidate sequence variants in dairy cattle. | Sahana G et al. | — | 2023 | → |
| ipaQTL-atlas: an atlas of intronic polyadenylation quantitative trait loci across human tissues. | Ma X et al. | — | 2023 | → |
| Juvenile idiopathic arthritis-associated genetic loci exhibit spatially constrained gene regulatory effects across multiple tissues and immune cell types. | Pudjihartono N et al. | — | 2023 | → |
| kGWASflow: a modular, flexible, and reproducible Snakemake workflow for k-mers-based GWAS. | Corut AK et al. | — | 2023 | → |
| Lacking mechanistic disease definitions and corresponding association data hamper progress in network medicine and beyond. | Sadegh S et al. | — | 2023 | → |
| Leveraging epigenomes and three-dimensional genome organization for interpreting regulatory variation. | Baur B et al. | — | 2023 | → |
| Long Non-Coding RNAs and Their "Discrete" Contribution to IBD and Johne's Disease-What Stands out in the Current Picture? A Comprehensive Review. | Triantaphyllopoulos KA | — | 2023 | → |
| Long-range regulatory effects of Neandertal DNA in modern humans. | Yermakovich D et al. | — | 2023 | → |
| Long-Term Simulation of Microgravity Induces Changes in Gene Expression in Breast Cancer Cells. | Sahana J et al. | — | 2023 | → |
| <i>In vivo</i> interrogation of regulatory genomes reveals extensive quasi-insufficiency in cancer evolution. | Fischer A et al. | — | 2023 | → |
| Machine learning reveals genetic modifiers of the immune microenvironment of cancer. | Riley-Gillis B et al. | — | 2023 | → |
| Mendelian randomization for nephrologists. | Dobrijevic E et al. | — | 2023 | → |
| Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci. | Pasanen A et al. | — | 2023 | → |
| Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression. | Sokolov AV et al. | — | 2023 | → |
| MicroRNA expression in apical periodontitis and pulpal inflammation: a systematic review. | Al Gashaamy ZJ et al. | — | 2023 | → |
| Microsatellites used in forensics are in regions enriched for trait-associated variants. | Link V et al. | — | 2023 | → |
| Molecular Genetics of Abnormal Redox Homeostasis in Type 2 Diabetes Mellitus. | Azarova I et al. | — | 2023 | → |
| Multivariate genome-wide association analysis by iterative hard thresholding. | Chu BB et al. | — | 2023 | → |
| Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment. | Davis KN et al. | — | 2023 | → |
| New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications. | Andreassen OA et al. | — | 2023 | → |
| Pancreatic microexons regulate islet function and glucose homeostasis. | Juan-Mateu J et al. | — | 2023 | → |
| Pleiotropic architectures of porcine immune and growth trait pairs revealed by a self-product-based transcriptome method. | Han P et al. | — | 2023 | → |
| Predicting mutational function using machine learning. | Shea A et al. | — | 2023 | → |
| Predisposition of the Common <i>MC4R</i> rs17782313 Female Carriers to Elevated Obesity and Interaction with Eating Habits. | Chermon D et al. | — | 2023 | → |
| Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report. | Najib B et al. | — | 2023 | → |
| Quality control and analytic best practices for testing genetic models of sex differences in large populations. | Khramtsova EA et al. | — | 2023 | → |
| Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics. | Miao J et al. | — | 2023 | → |
| Random allelic expression in the adult human body. | Kravitz SN et al. | — | 2023 | → |
| Robustness of quantifying mediating effects of genetically regulated expression on complex traits with mediated expression score regression. | Lin C et al. | — | 2023 | → |
| Robust statistical boosting with quantile-based adaptive loss functions. | Speller J et al. | — | 2023 | → |
| Serum Urate and Risk of Chronic Kidney Disease: A Mendelian Randomization Study Using Taiwan Biobank. | Tsao HM et al. | — | 2023 | → |
| Sex-biased gene and microRNA expression in the developing mouse brain is associated with neurodevelopmental functions and neurological phenotypes. | Szakats S et al. | — | 2023 | → |
| Shared genetic architecture between attention-deficit/hyperactivity disorder and lifespan. | Vilar-Ribó L et al. | — | 2023 | → |
| Single-nucleus transcriptome profiling of prefrontal cortex induced by chronic methamphetamine treatment. | Zeng K et al. | — | 2023 | → |
| Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort. | Farré X et al. | — | 2023 | → |
| The Combination of Quantitative Proteomics and Systems Genetics Analysis Reveals that PTN Is Associated with Sleep-Loss-Induced Cognitive Impairment. | Zhou Y et al. | — | 2023 | → |
| The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer. | Ahmad O et al. | — | 2023 | → |
| The genetic and evolutionary basis of gene expression variation in East Africans. | Kelly DE et al. | — | 2023 | → |
| The sequence kernel association test for multicategorical outcomes. | Jiang Z et al. | — | 2023 | → |
| The TiHoCL panel for canine lymphoma: a feasibility study integrating functional genomics and network biology approaches for comparative oncology targeted NGS panel design. | Fibi-Smetana S et al. | — | 2023 | → |
| Topic modeling identifies novel genetic loci associated with multimorbidities in UK Biobank. | Zhang Y et al. | — | 2023 | → |
| Unappreciated subcontinental admixture in Europeans and European Americans and implications for genetic epidemiology studies. | Gouveia MH et al. | — | 2023 | → |
| Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics. | Cook TW et al. | — | 2023 | → |
| Uromodulin and CKD: insight into variant pathogenicity. | Franceschini N et al. | — | 2023 | → |
| Using human genetics to improve safety assessment of therapeutics. | Carss KJ et al. | — | 2023 | → |
| Validation of Genome-Wide Association Studies (GWAS)-Identified Type 2 Diabetes Mellitus Risk Variants in Pakistani Pashtun Population. | Jan A et al. | — | 2023 | → |
| 16S rRNA and metagenomic shotgun sequencing data revealed consistent patterns of gut microbiome signature in pediatric ulcerative colitis. | Zuo W et al. | — | 2022 | → |
| 3'aQTL-atlas: an atlas of 3'UTR alternative polyadenylation quantitative trait loci across human normal tissues. | Cui Y et al. | — | 2022 | → |
| Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease. | Quiver MH et al. | — | 2022 | → |
| Advances in profiling chromatin architecture shed light on the regulatory dynamics underlying brain disorders. | Pratt BM et al. | — | 2022 | → |
| A functional polymorphism of microRNA-143 is associated with the risk of type 2 diabetes mellitus in the northern Chinese Han population. | Kong D et al. | — | 2022 | → |
| A genome-wide association study of a rage-related misophonia symptom and the genetic link with audiological traits, psychiatric disorders, and personality. | Smit DJA et al. | — | 2022 | → |
| A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci. | van Bree EJ et al. | — | 2022 | → |
| Alzheimer's Disease Classification Through Imaging Genetic Data With IGnet. | Wang JX et al. | — | 2022 | → |
| AmazonForest: In Silico Metaprediction of Pathogenic Variants. | Palheta HGA et al. | — | 2022 | → |
| A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma. | Seviiri M et al. | — | 2022 | → |
| An optimal variant to gene distance window derived from an empirical definition of cis and trans protein QTLs. | Fauman EB et al. | — | 2022 | → |
| A pilot study of differential gene expressions in patients with cough variant asthma and classic bronchial asthma. | Zhou G et al. | — | 2022 | → |
| Appraisal of Gene-Environment Interactions in GWAS for Evidence-Based Precision Nutrition Implementation. | San-Cristobal R et al. | — | 2022 | → |
| Archaic introgression contributed to the pre-agriculture adaptation of vitamin B1 metabolism in East Asia. | Ma X et al. | — | 2022 | → |
| A review of SNP heritability estimation methods. | Tang M et al. | — | 2022 | → |
| A robust and adaptive framework for interaction testing in quantitative traits between multiple genetic loci and exposure variables. | Hecker J et al. | — | 2022 | → |
| A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources. | Raja K et al. | — | 2022 | → |
| Assessing temporal and geographic contacts across the Adriatic Sea through the analysis of genome-wide data from Southern Italy. | Raveane A et al. | — | 2022 | → |
| Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data. | Wainschtein P et al. | — | 2022 | → |
| Association of cytochromes P450 3A4*22 and 3A5*3 genotypes and polymorphism with response to simvastatin in hypercholesterolemia patients. | Elalem EG et al. | — | 2022 | → |
| Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis. | Scannell Bryan M et al. | — | 2022 | → |
| A systematic review of analytical methods used in genetic association analysis of the X-chromosome. | Keur N et al. | — | 2022 | → |
| A two-sample robust Bayesian Mendelian Randomization method accounting for linkage disequilibrium and idiosyncratic pleiotropy with applications to the COVID-19 outcomes. | Wang A et al. | — | 2022 | → |
| Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis. | Tengvall K et al. | — | 2022 | → |
| Biomedical data, computational methods and tools for evaluating disease-disease associations. | Xiang J et al. | — | 2022 | → |
| Bringing the Animal QTLdb and CorrDB into the future: meeting new challenges and providing updated services. | Hu ZL et al. | — | 2022 | → |
| Causal Associations between Vitamin D Levels and Psoriasis, Atopic Dermatitis, and Vitiligo: A Bidirectional Two-Sample Mendelian Randomization Analysis. | Ren Y et al. | — | 2022 | → |
| Cell-Type-Specific Impact of Glucocorticoid Receptor Activation on the Developing Brain: A Cerebral Organoid Study. | Cruceanu C et al. | — | 2022 | → |
| Cell type-specific mechanism of Setd1a heterozygosity in schizophrenia pathogenesis. | Chen R et al. | — | 2022 | → |
| Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity. | Ferreira JC et al. | — | 2022 | → |
| Chromosomal Region 11p14.1 is Associated with Pharmacokinetics and Pharmacodynamics of Bisoprolol. | Fontana V et al. | — | 2022 | → |
| CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank. | Fitzgerald T et al. | — | 2022 | → |
| Coding and regulatory variants are associated with serum protein levels and disease. | Emilsson V et al. | — | 2022 | → |
| CoMent: Relationships Between Biomedical Concepts Inferred From the Scientific Literature. | Pazos F et al. | — | 2022 | → |
| Comprehensive evaluation of mapping complex traits in wheat using genome-wide association studies. | Saini DK et al. | — | 2022 | → |
| Computational studies reveal co-occurrence of two mutations in IL7R gene of high-grade serous carcinoma patients. | Wadapurkar RM et al. | — | 2022 | → |
| Concurrent outcomes from multiple approaches of epistasis analysis for human body mass index associated loci provide insights into obesity biology. | D'Silva S et al. | — | 2022 | → |
| Cumulative Evidence for Relationships Between Multiple Variants in the TERT and CLPTM1L Region and Risk of Cancer and Non-Cancer Disease. | Tian J et al. | — | 2022 | → |
| Current Advancement of Immunomodulatory Drugs as Potential Pharmacotherapies for Autoimmunity Based Neurological Diseases. | Ashraf H et al. | — | 2022 | → |
| Detailed stratified GWAS analysis for severe COVID-19 in four European populations. | Degenhardt F et al. | — | 2022 | → |
| Detecting Selection in Multiple Populations by Modeling Ancestral Admixture Components. | Cheng JY et al. | — | 2022 | → |
| Determining the stability of genome-wide factors in BMI between ages 40 to 69 years. | Gillespie NA et al. | — | 2022 | → |
| Differentiation and comorbidity of bipolar disorder and attention deficit and hyperactivity disorder in children, adolescents, and adults: A clinical and nosological perspective. | Comparelli A et al. | — | 2022 | → |
| Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves. | Chan MMY et al. | — | 2022 | → |
| Diverse environmental perturbations reveal the evolution and context-dependency of genetic effects on gene expression levels. | Lea AJ et al. | — | 2022 | → |
| Domestic dog lineages reveal genetic drivers of behavioral diversification. | Dutrow EV et al. | — | 2022 | → |
| Empirical assessment of allele frequencies of genome wide association study variants associated with obstructive sleep apnea. | Mohit et al. | — | 2022 | → |
| Evaluating statistical significance in a <i>meta</i>-analysis by using numerical integration. | Lin YC et al. | — | 2022 | → |
| Evaluating the detection ability of a range of epistasis detection methods on simulated data for pure and impure epistatic models. | Russ D et al. | — | 2022 | → |
| Evaluation and Comparison of Multi-Omics Data Integration Methods for Subtyping of Cutaneous Melanoma. | Amaro A et al. | — | 2022 | → |
| Evolutionary Trajectories of Complex Traits in European Populations of Modern Humans. | Kuijpers Y et al. | — | 2022 | → |
| Exome-wide screening identifies novel rare risk variants for major depression disorder. | Cheng S et al. | — | 2022 | → |
| Expanding a database-derived biomedical knowledge graph via multi-relation extraction from biomedical abstracts. | Nicholson DN et al. | — | 2022 | → |
| Exploration of Tools for the Interpretation of Human Non-Coding Variants. | Tabarini N et al. | — | 2022 | → |
| Fine-mapping studies distinguish genetic risks for childhood- and adult-onset asthma in the HLA region. | Clay SM et al. | — | 2022 | → |
| First genome-wide association study of 99 body measures derived from 3-dimensional body scans. | Kühnapfel A et al. | — | 2022 | → |
| Gene losses may contribute to subterranean adaptations in naked mole-rat and blind mole-rat. | Zheng Z et al. | — | 2022 | → |
| Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries. | Natri HM et al. | — | 2022 | → |
| Genetic differentiation in East African ethnicities and its relationship with endurance running success. | Zani ALS et al. | — | 2022 | → |
| Genetic Regulation of Cytokine Response in Patients with Acute Community-Acquired Pneumonia. | Kühnapfel A et al. | — | 2022 | → |
| Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine-Brief Report. | Deshotels MR et al. | — | 2022 | → |
| Genome- and Transcriptome-Wide Association Studies Identify Susceptibility Genes and Pathways for Periodontitis. | Zhu G et al. | — | 2022 | → |
| Genome interpretation using in silico predictors of variant impact. | Katsonis P et al. | — | 2022 | → |
| Genome-wide analysis of genetic predisposition to common polygenic cancers. | Nazarian A et al. | — | 2022 | → |
| Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study. | Fuse N et al. | — | 2022 | → |
| Genome-Wide Gene-Set Analysis Approaches in Amyotrophic Lateral Sclerosis. | Vasilopoulou C et al. | — | 2022 | → |
| Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis. | Scholz M et al. | — | 2022 | → |
| Genome-wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores. | Zhu X et al. | — | 2022 | → |
| Genomic architecture and functional effects of potential human inversion supergenes. | Campoy E et al. | — | 2022 | → |
| Genotype imputation for soybean nested association mapping population to improve precision of QTL detection. | Chen L et al. | — | 2022 | → |
| Germline Genetic and Treatment-Related Risk Factors for Diabetes Mellitus in Survivors of Childhood Cancer: A Report From the Childhood Cancer Survivor Study and St Jude Lifetime Cohorts. | Richard MA et al. | — | 2022 | → |
| Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease. | Zhou W et al. | — | 2022 | → |
| Glucocorticoids mediate transcriptome-wide alternative polyadenylation: Potential mechanistic and clinical implications. | Nguyen TTL et al. | — | 2022 | → |
| Glucocorticoids unmask silent non-coding genetic risk variants for common diseases. | Nguyen TTL et al. | — | 2022 | → |
| GRAND: a database of gene regulatory network models across human conditions. | Ben Guebila M et al. | — | 2022 | → |
| Histone acetylome-wide associations in immune cells from individuals with active Mycobacterium tuberculosis infection. | Del Rosario RCH et al. | — | 2022 | → |
| HLA imputation and its application to genetic and molecular fine-mapping of the MHC region in autoimmune diseases. | Naito T et al. | — | 2022 | → |
| Identification of Hub Genes and Potential Biomarkers for Childhood Asthma by Utilizing an Established Bioinformatic Analysis Approach. | Santri IN et al. | — | 2022 | → |
| Identifying shared genetic loci between coronavirus disease 2019 and cardiovascular diseases based on cross-trait meta-analysis. | Guo H et al. | — | 2022 | → |
| <i>FTO</i> Common Obesity SNPs Interact with Actionable Environmental Factors: Physical Activity, Sugar-Sweetened Beverages and Wine Consumption. | Chermon D et al. | — | 2022 | → |
| Immune disease risk variants regulate gene expression dynamics during CD4<sup>+</sup> T cell activation. | Soskic B et al. | — | 2022 | → |
| Infection outcome needs two to tango: human host and the pathogen. | Maurya R et al. | — | 2022 | → |
| Integrating gene expression and clinical data to identify drug repurposing candidates for hyperlipidemia and hypertension. | Wu P et al. | — | 2022 | → |
| Introduction to Personalized Medicine in Pediatrics. | Bupp CP et al. | — | 2022 | → |
| Investigating the prediction of CpG methylation levels from SNP genotype data to help elucidate relationships between methylation, gene expression and complex traits. | Fryett JJ et al. | — | 2022 | → |
| Large-scale association study on daily weight gain in pigs reveals overlap of genetic factors for growth in humans. | Cai Z et al. | — | 2022 | → |
| Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders. | Zhang X et al. | — | 2022 | → |
| Leveraging pleiotropy for joint analysis of genome-wide association studies with per trait interpretations. | Taraszka K et al. | — | 2022 | → |
| LmTag: functional-enrichment and imputation-aware tag SNP selection for population-specific genotyping arrays. | Thanh Nguyen D et al. | — | 2022 | → |
| <i>APOE</i> alleles modulate associations of plasma metabolites with variants from multiple genes on chromosome 19q13.3. | Nazarian A et al. | — | 2022 | → |
| Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD. | Wang Z et al. | — | 2022 | → |
| Mapping gene by early life stress interactions on child subcortical brain structures: A genome-wide prospective study. | Bolhuis K et al. | — | 2022 | → |
| Mapping of novel loci involved in lung and colon tumor susceptibility by the use of genetically selected mouse strains. | Borrego A et al. | — | 2022 | → |
| Mapping of promoter usage QTL using RNA-seq data reveals their contributions to complex traits. | Kubota N et al. | — | 2022 | → |
| Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome. | Liu X et al. | — | 2022 | → |
| Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels. | Sarnowski C et al. | — | 2022 | → |
| Meta-analysis of genome-wide association studies uncovers shared candidate genes across breeds for pig fatness trait. | Zeng H et al. | — | 2022 | → |
| Meta-Analysis of Vitamin D Receptor Gene Polymorphisms in Childhood Asthma. | Zhou Y et al. | — | 2022 | → |
| Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels. | Hysi PG et al. | — | 2022 | → |
| mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights. | Chang L et al. | — | 2022 | → |
| Multi-omics peripheral and core regions of cancer. | Wang B et al. | — | 2022 | → |
| Noncoding genetic variation in GATA3 increases acute lymphoblastic leukemia risk through local and global changes in chromatin conformation. | Yang H et al. | — | 2022 | → |
| OARD: Open annotations for rare diseases and their phenotypes based on real-world data. | Liu C et al. | — | 2022 | → |
| Oxytocin receptor expression patterns in the human brain across development. | Rokicki J et al. | — | 2022 | → |
| Pancan-MNVQTLdb: systematic identification of multi-nucleotide variant quantitative trait loci in 33 cancer types. | Wang D et al. | — | 2022 | → |
| PCA outperforms popular hidden variable inference methods for molecular QTL mapping. | Zhou HJ et al. | — | 2022 | → |
| Phenotypic Causal Inference Using Genome-Wide Association Study Data: Mendelian Randomization and Beyond. | Walker VM et al. | — | 2022 | → |
| Polygenic and Network-based studies in risk identification and demystification of cancer. | El Hadi C et al. | — | 2022 | → |
| PopHumanVar: an interactive application for the functional characterization and prioritization of adaptive genomic variants in humans. | Colomer-Vilaplana A et al. | — | 2022 | → |
| Population differentiation of polygenic score predictions under stabilizing selection. | Yair S et al. | — | 2022 | → |
| Prioritization of human well-being spectrum related GWAS-SNVs using ENCODE-based web-tools predict interplay between PSMC3, ITIH4, and SERPINC1 genes in modulating well-being. | Pyne T et al. | — | 2022 | → |
| Promoter sequence and architecture determine expression variability and confer robustness to genetic variants. | Einarsson H et al. | — | 2022 | → |
| Proteome-wide Mendelian randomization identifies causal links between blood proteins and severe COVID-19. | Palmos AB et al. | — | 2022 | → |
| Reference Module-Based Analysis of Ovarian Cancer Transcriptome Identifies Important Modules and Potential Drugs. | Lai X et al. | — | 2022 | → |
| Relative contributions of sex hormones, sex chromosomes, and gonads to sex differences in tissue gene regulation. | Blencowe M et al. | — | 2022 | → |
| Research Review: A guide to computing and implementing polygenic scores in developmental research. | Allegrini AG et al. | — | 2022 | → |
| Rs10204525 Polymorphism of the Programmed Death (PD-1) Gene Is Associated with Increased Risk in a Saudi Arabian Population with Colorectal Cancer. | Al-Harbi N et al. | — | 2022 | → |
| Shared genetic loci between depression and cardiometabolic traits. | Torgersen K et al. | — | 2022 | → |
| Single-cell RNA sequencing reveals induction of distinct trained-immunity programs in human monocytes. | Zhang B et al. | — | 2022 | → |
| SMetABF: A rapid algorithm for Bayesian GWAS meta-analysis with a large number of studies included. | Sun J et al. | — | 2022 | → |
| Socioeconomic and genomic roots of verbal ability from current evidence. | Guo G et al. | — | 2022 | → |
| Strengthening Causal Inference in Exposomics Research: Application of Genetic Data and Methods. | Avery CL et al. | — | 2022 | → |
| Surfing the Big Data Wave: Omics Data Challenges in Transplantation. | Ba R et al. | — | 2022 | → |
| Systematic analysis of naturally occurring insertions and deletions that alter transcription factor spacing identifies tolerant and sensitive transcription factor pairs. | Shen Z et al. | — | 2022 | → |
| Systematic analysis of the effects of genetic variants on chromatin accessibility to decipher functional variants in non-coding regions. | Wang D et al. | — | 2022 | → |
| Targeting Specific Checkpoints in the Management of SARS-CoV-2 Induced Cytokine Storm. | Rabiu Abubakar A et al. | — | 2022 | → |
| The associations between plasma soluble Trem1 and neurological diseases: a Mendelian randomization study. | Shi X et al. | — | 2022 | → |
| The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets. | Lago SG et al. | — | 2022 | → |
| The Effect of Circulating Zinc, Selenium, Copper and Vitamin K<sub>1</sub> on COVID-19 Outcomes: A Mendelian Randomization Study. | Sobczyk MK et al. | — | 2022 | → |
| The Genetic Architecture of Non-Syndromic Rhegmatogenous Retinal Detachment. | Moledina M et al. | — | 2022 | → |
| The role of metabolites under the influence of genes and lifestyles in bone density changes. | Lv X et al. | — | 2022 | → |
| TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. | Huang L et al. | — | 2022 | → |
| Tracing Bai-Yue Ancestry in Aboriginal Li People on Hainan Island. | Chen H et al. | — | 2022 | → |
| Trans-Ethnic Meta-Analysis of Interactions Between Genetics and Early-Life Socioeconomic Context on Memory Performance and Decline in Older Americans. | Faul JD et al. | — | 2022 | → |
| Unlocking the Memory Component of Alzheimer's Disease: Biological Processes and Pathways across Brain Regions. | Dovrolis N et al. | — | 2022 | → |
| Using the UK Biobank as a global reference of worldwide populations: application to measuring ancestry diversity from GWAS summary statistics. | Privé F | — | 2022 | → |
| Validation of Candidate Sleep Disorder Risk Genes Using Zebrafish. | Tran S et al. | — | 2022 | → |
| Vision-related convergent gene losses reveal <i>SERPINE3</i>'s unknown role in the eye. | Indrischek H et al. | — | 2022 | → |
| Whole genome DNA and RNA sequencing of whole blood elucidates the genetic architecture of gene expression underlying a wide range of diseases. | Liu C et al. | — | 2022 | → |
| Accurate prediction of <i>cis</i>-regulatory modules reveals a prevalent regulatory genome of humans. | Ni P et al. | — | 2021 | → |
| A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens. | Liu W et al. | — | 2021 | → |
| A comparison of genotyping arrays. | Verlouw JAM et al. | — | 2021 | → |
| A comprehensive integrated post-GWAS analysis of Type 1 diabetes reveals enhancer-based immune dysregulation. | Kim SS et al. | — | 2021 | → |
| A computational structural biology study to understand the impact of mutation on structure-function relationship of inward-rectifier potassium ion channel Kir6.2 in human. | Gupta MK et al. | — | 2021 | → |
| A cortical immune network map identifies distinct microglial transcriptional programs associated with β-amyloid and Tau pathologies. | Patrick E et al. | — | 2021 | → |
| Advances and challenges in quantitative delineation of the genetic architecture of complex traits. | Tang H et al. | — | 2021 | → |
| A fast wavelet-based functional association analysis replicates several susceptibility loci for birth weight in a Norwegian population. | Denault WRP et al. | — | 2021 | → |
| A genome-wide association study for gut metagenome in Chinese adults illuminates complex diseases. | Liu X et al. | — | 2021 | → |
| A genome wide association study for lung function in the Korean population using an exome array. | Lee KS et al. | — | 2021 | → |
| A hypothetical model of trans-acting R-loops-mediated promoter-enhancer interactions by Alu elements. | Bai X et al. | — | 2021 | → |
| Alcohol Intake and Alcohol-SNP Interactions Associated with Prostate Cancer Aggressiveness. | Lin HY et al. | — | 2021 | → |
| A mixed-model approach for powerful testing of genetic associations with cancer risk incorporating tumor characteristics. | Zhang H et al. | — | 2021 | → |
| A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. | Hardcastle AJ et al. | — | 2021 | → |
| An approach to gene-based testing accounting for dependence of tests among nearby genes. | Yurko R et al. | — | 2021 | → |
| A network analysis framework of genetic and nongenetic risks for type 2 diabetes. | Zhang Y et al. | — | 2021 | → |
| An integrated approach to identify environmental modulators of genetic risk factors for complex traits. | Balliu B et al. | — | 2021 | → |
| An Ovarian Cancer Susceptible Gene Prediction Method Based on Deep Learning Methods. | Ye L et al. | — | 2021 | → |
| AP-1 subunits converge promiscuously at enhancers to potentiate transcription. | Seo J et al. | — | 2021 | → |
| A regulatory variant at 3q21.1 confers an increased pleiotropic risk for hyperglycemia and altered bone mineral density. | Sinnott-Armstrong N et al. | — | 2021 | → |
| Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model. | Hung RJ et al. | — | 2021 | → |
| Association of Novel Locus With Rheumatic Heart Disease in Black African Individuals: Findings From the RHDGen Study. | Machipisa T et al. | — | 2021 | → |
| Associations of biogeographic ancestry with hypertension traits. | Keaton JM et al. | — | 2021 | → |
| Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases. | Li S et al. | — | 2021 | → |
| Astroglia in Autism Spectrum Disorder. | Gzielo K et al. | — | 2021 | → |
| A structural brain network of genetic vulnerability to psychiatric illness. | Taquet M et al. | — | 2021 | → |
| A systematic comparison of normalization methods for eQTL analysis. | Yang J et al. | — | 2021 | → |
| A transcription-centric model of SNP-age interaction. | Wang K et al. | — | 2021 | → |
| A Type 2 Diabetes Subtype Responsive to ACCORD Intensive Glycemia Treatment. | Mariam A et al. | — | 2021 | → |
| A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts. | Veturi Y et al. | — | 2021 | → |
| Cancer and COVID-19 Susceptibility and Severity: A Two-Sample Mendelian Randomization and Bioinformatic Analysis. | Zhang Y et al. | — | 2021 | → |
| CancerImmunityQTL: a database to systematically evaluate the impact of genetic variants on immune infiltration in human cancer. | Tian J et al. | — | 2021 | → |
| Cardiotoxicity of Antineoplastic Therapies and Applications of Induced Pluripotent Stem Cell-Derived Cardiomyocytes. | Huang MF et al. | — | 2021 | → |
| Cardiovascular Safety and Sclerostin Inhibition. | Langdahl BL et al. | — | 2021 | → |
| Challenges and Opportunities of Genomic Approaches in Therapeutics Development. | Gray JS et al. | — | 2021 | → |
| Chamber-enriched gene expression profiles in failing human hearts with reduced ejection fraction. | Luo X et al. | — | 2021 | → |
| Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression. | Ashouri S et al. | — | 2021 | → |
| Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy. | Xu F et al. | — | 2021 | → |
| Characterizing the Genetic Architecture of Parkinson's Disease in Latinos. | Loesch DP et al. | — | 2021 | → |
| Cigarette smoking-associated isoform switching and 3' UTR lengthening via alternative polyadenylation. | Xu Z et al. | — | 2021 | → |
| Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents. | Fuzo CA et al. | — | 2021 | → |
| COVID-19 patient transcriptomic and genomic profiling reveals comorbidity interactions with psychiatric disorders. | Moni MA et al. | — | 2021 | → |
| Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts. | Graff RE et al. | — | 2021 | → |
| Current HLA Investigations on SARS-CoV-2 and Perspectives. | Douillard V et al. | — | 2021 | → |
| Current insights into the genetics of food allergy. | Kanchan K et al. | — | 2021 | → |
| Deep post-GWAS analysis identifies potential risk genes and risk variants for Alzheimer's disease, providing new insights into its disease mechanisms. | Wang Z et al. | — | 2021 | → |
| Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. | Xu H et al. | — | 2021 | → |
| 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. | Castela Forte J et al. | — | 2021 | → |
| DGLinker: flexible knowledge-graph prediction of disease-gene associations. | Hu J et al. | — | 2021 | → |
| Dietary Fiber Intake May Influence the Impact of <i>FTO</i> Genetic Variants on Obesity Parameters and Lipid Profile-A Cohort Study of a Caucasian Population of Polish Origin. | Czajkowski P et al. | — | 2021 | → |
| Differential Effect of Polymorphisms on Body Mass Index Across the Life Course of Japanese: The Japan Multi-Institutional Collaborative Cohort Study. | Iwase M et al. | — | 2021 | → |
| Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome. | Porcu E et al. | — | 2021 | → |
| Dissecting the heritable risk of breast cancer: From statistical methods to susceptibility genes. | Fanfani V et al. | — | 2021 | → |
| Distinct genetic regions are associated with differential population susceptibility to chemical exposures. | Kosnik MB et al. | — | 2021 | → |
| DNA hypo-methylation facilitates anti-inflammatory responses in severe ulcerative colitis. | Taman H et al. | — | 2021 | → |
| DNA methylation as the link between migration and the major noncommunicable diseases: the RODAM study. | Chilunga FP et al. | — | 2021 | → |
| Dysregulation of the secretory pathway connects Alzheimer's disease genetics to aggregate formation. | Kuo CC et al. | — | 2021 | → |
| Early Life Adversity and Polygenic Risk for High Fasting Insulin Are Associated With Childhood Impulsivity. | Batra A et al. | — | 2021 | → |
| Elucidation of the Genomic-Epigenomic Interaction Landscape of Aggressive Prostate Cancer. | Kumar Mamidi TK et al. | — | 2021 | → |
| Emerging issues in genomic selection. | Misztal I et al. | — | 2021 | → |
| Enhancer release and retargeting activates disease-susceptibility genes. | Oh S et al. | — | 2021 | → |
| Epigenetic rewiring of skeletal muscle enhancers after exercise training supports a role in whole-body function and human health. | Williams K et al. | — | 2021 | → |
| Epigenome-wide association study detects a novel loci associated with central obesity in healthy subjects. | Xie T et al. | — | 2021 | → |
| EpiGraphDB: a database and data mining platform for health data science. | Liu Y et al. | — | 2021 | → |
| Essential genes from genome-wide screenings as a resource for neuropsychiatric disorders gene discovery. | Zhang W et al. | — | 2021 | → |
| Evolutionary genetics of skin pigmentation in African populations. | Feng Y et al. | — | 2021 | → |
| Evolution of cytokine production capacity in ancient and modern European populations. | Domínguez-Andrés J et al. | — | 2021 | → |
| Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis. | Salehi Z et al. | — | 2021 | → |
| Extensive bidirectional genetic overlap between bipolar disorder and cardiovascular disease phenotypes. | Rødevand L et al. | — | 2021 | → |
| Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families. | Al-Sarraj Y et al. | — | 2021 | → |
| Fast searches of large collections of single-cell data using scfind. | Lee JTH et al. | — | 2021 | → |
| Functional analysis of low-grade glioma genetic variants predicts key target genes and transcription factors. | Manjunath M et al. | — | 2021 | → |
| Functional and clinical implications of genetic structure in 1686 Italian exomes. | Birolo G et al. | — | 2021 | → |
| Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation. | Khetan S et al. | — | 2021 | → |
| Functional Deletion/Insertion Promoter Variants in <i>SCARB1</i> Associated With Increased Susceptibility to Lipid Profile Abnormalities and Coronary Heart Disease. | Hu S et al. | — | 2021 | → |
| Gene co-expression analysis identifies modules related to insufficient sleep in humans. | Ye H et al. | — | 2021 | → |
| Gene Environment Interactions Between the <i>COL9A1</i> Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus. | Zhao J et al. | — | 2021 | → |
| Genetically determined low income modifies Alzheimer's disease risk. | Wang RZ et al. | — | 2021 | → |
| Genetically determined risk of keratinocyte carcinoma and risk of other cancers. | Dusingize JC et al. | — | 2021 | → |
| Genetically predicted circulating concentrations of micronutrients and risk of breast cancer: A Mendelian randomization study. | Papadimitriou N et al. | — | 2021 | → |
| Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study. | Tsilidis KK et al. | — | 2021 | → |
| Genetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study. | Zhang X et al. | — | 2021 | → |
| Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations. | Mulford AJ et al. | — | 2021 | → |
| Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes. | Pazoki R et al. | — | 2021 | → |
| Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility. | Adolphe C et al. | — | 2021 | → |
| Genetic Polymorphism of Drug Metabolic Gene <i>CYPs, VKORC1, NAT2, DPYD</i> and <i>CHST3</i> of Five Ethnic Minorities in Heilongjiang Province, Northeast China. | Zhang T et al. | — | 2021 | → |
| Genetic risk scores for cardiometabolic traits in sub-Saharan African populations. | Ekoru K et al. | — | 2021 | → |
| Genetics meets proteomics: perspectives for large population-based studies. | Suhre K et al. | — | 2021 | → |
| Genetic underpinnings of sociability in the general population. | Bralten J et al. | — | 2021 | → |
| Genetic variation and urine cadmium levels: ABCC1 effects in the Strong Heart Family Study. | Grau-Perez M et al. | — | 2021 | → |
| Genomewide alteration of histone H3K4 methylation underlies genetic vulnerability to psychopathology. | Nesbit N et al. | — | 2021 | → |
| Genome-Wide Analysis of Sex Disparities in the Genetic Architecture of Lung and Colorectal Cancers. | Nazarian A et al. | — | 2021 | → |
| Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers. | Lesseur C et al. | — | 2021 | → |
| Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. | Simcoe M et al. | — | 2021 | → |
| Genome-wide association study of cardiovascular disease in testicular cancer patients treated with platinum-based chemotherapy. | Steggink LC et al. | — | 2021 | → |
| Genome-wide DNA methylation analysis on C-reactive protein among Ghanaians suggests molecular links to the emerging risk of cardiovascular diseases. | Chilunga FP et al. | — | 2021 | → |
| Genomics of hypertension: the road to precision medicine. | Padmanabhan S et al. | — | 2021 | → |
| Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis. | Sanders M et al. | — | 2021 | → |
| GWAS Links New Variant in Long Non-Coding RNA <i>LINC02006</i> with Colorectal Cancer Susceptibility. | Hennig EE et al. | — | 2021 | → |
| GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression. | Wu Y et al. | — | 2021 | → |
| H3ABioNet genomic medicine and microbiome data portals hackathon proceedings. | Fadlelmola FM et al. | — | 2021 | → |
| HFIP: an integrated multi-omics data and knowledge platform for the precision medicine of heart failure. | Wu J et al. | — | 2021 | → |
| Highly multiplexed rapid DNA detection with single-nucleotide specificity via convective PCR in a portable device. | Khodakov D et al. | — | 2021 | → |
| Highly pleiotropic variants of human traits are enriched in genomic regions with strong background selection. | Novo I et al. | — | 2021 | → |
| Human genetic analyses of organelles highlight the nucleus in age-related trait heritability. | Gupta R et al. | — | 2021 | → |
| Identification of genetic overlap and novel risk loci for attention-deficit/hyperactivity disorder and bipolar disorder. | O'Connell KS et al. | — | 2021 | → |
| Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease. | Herborg F et al. | — | 2021 | → |
| <i>In silico</i> Analysis of Polymorphisms in microRNAs Deregulated in Alzheimer Disease. | Moraghebi M et al. | — | 2021 | → |
| Implications of venous thromboembolism GWAS reported genetic makeup in the clinical outcome of ovarian cancer patients. | Tavares V et al. | — | 2021 | → |
| Improving reporting standards for polygenic scores in risk prediction studies. | Wand H et al. | — | 2021 | → |
| Imputation Performance in Latin American Populations: Improving Rare Variants Representation With the Inclusion of Native American Genomes. | Jiménez-Kaufmann A et al. | — | 2021 | → |
| Inferring Genome-Wide Correlations of Mutation Fitness Effects between Populations. | Huang X et al. | — | 2021 | → |
| Insights into glucocorticoid responses derived from omics studies. | Kan M et al. | — | 2021 | → |
| Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals. | Liu X et al. | — | 2021 | → |
| Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants. | Ouellette TW et al. | — | 2021 | → |
| Integrating genomics and transcriptomics: Towards deciphering ADHD. | Pujol-Gualdo N et al. | — | 2021 | → |
| Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease. | Chu X et al. | — | 2021 | → |
| Integration of summary data from GWAS and eQTL studies identified novel risk genes for coronary artery disease. | Zhong Y et al. | — | 2021 | → |
| Integrative biomarker detection on high-dimensional gene expression data sets: a survey on prior knowledge approaches. | Perscheid C | — | 2021 | → |
| Investigating the causal effect of fibroblast growth factor 23 on osteoporosis and cardiometabolic disorders: A Mendelian randomization study. | Yokomoto-Umakoshi M et al. | — | 2021 | → |
| Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. | Sakurai-Yageta M et al. | — | 2021 | → |
| KLK3 SNP-SNP interactions for prediction of prostate cancer aggressiveness. | Lin HY et al. | — | 2021 | → |
| Lantern: an integrative repository of functional annotations for lncRNAs in the human genome. | Daulatabad SV et al. | — | 2021 | → |
| Ligand-specific pharmacogenetic effects of nonsynonymous mutations. | Morningstar-Kywi N et al. | — | 2021 | → |
| Machine Learning Identifies Six Genetic Variants and Alterations in the Heart Atrial Appendage as Key Contributors to PD Risk Predictivity. | Ho D et al. | — | 2021 | → |
| MARS: leveraging allelic heterogeneity to increase power of association testing. | Hormozdiari F et al. | — | 2021 | → |
| Mendelian randomization analysis of arsenic metabolism and pulmonary function within the Hispanic Community Health Study/Study of Latinos. | Scannell Bryan M et al. | — | 2021 | → |
| MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes. | Sobczyk MK et al. | — | 2021 | → |
| Meta-analysis of sample-level dbGaP data reveals novel shared genetic link between body height and Crohn's disease. | Di Narzo A et al. | — | 2021 | → |
| Meta-analysis of SNP-environment interaction with heterogeneity for overlapping data. | Jin Q et al. | — | 2021 | → |
| Methodology in phenome-wide association studies: a systematic review. | Wang L et al. | — | 2021 | → |
| Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations. | Emde AK et al. | — | 2021 | → |
| MiR-3130-5p is an intermediate modulator of 2q33 and influences the invasiveness of lung adenocarcinoma by targeting NDUFS1. | Zhan J et al. | — | 2021 | → |
| Multiethnic genome-wide and HLA association study of total serum IgE level. | Daya M et al. | — | 2021 | → |
| Multi-Omic Approaches to Identify Genetic Factors in Metabolic Syndrome. | Clark KC et al. | — | 2021 | → |
| Multi-omics analysis identifies CpGs near G6PC2 mediating the effects of genetic variants on fasting glucose. | Chung RH et al. | — | 2021 | → |
| ncRNAVar: A Manually Curated Database for Identification of Noncoding RNA Variants Associated with Human Diseases. | Zhang W et al. | — | 2021 | → |
| Next generation sequencing of SARS-CoV-2 genomes: challenges, applications and opportunities. | Chiara M et al. | — | 2021 | → |
| Novel lincRNA Discovery and Tissue-Specific Gene Expression across 30 Normal Human Tissues. | Chen X et al. | — | 2021 | → |
| Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus. | Shinde V et al. | — | 2021 | → |
| Performance of Three Inherited Risk Measures for Predicting Prostate Cancer Incidence and Mortality: A Population-based Prospective Analysis. | Shi Z et al. | — | 2021 | → |
| Pleiotropic genetic influence on birth weight and childhood obesity. | Chatterjee S et al. | — | 2021 | → |
| Polygenic Risk Scores. | Osterman MD et al. | — | 2021 | → |
| Polygenic Risk Scores to Identify CVD Risk and Tailor Therapy: Hope or Hype? | German CA et al. | — | 2021 | → |
| powerEQTL: an R package and shiny application for sample size and power calculation of bulk tissue and single-cell eQTL analysis. | Dong X et al. | — | 2021 | → |
| Prediction of drug response in multilayer networks based on fusion of multiomics data. | Yu L et al. | — | 2021 | → |
| Prenatal risk factors and neonatal DNA methylation in very preterm infants. | Camerota M et al. | — | 2021 | → |
| Promoter-interacting expression quantitative trait loci are enriched for functional genetic variants. | Chandra V et al. | — | 2021 | → |
| Quantitative Human Paleogenetics: What can Ancient DNA Tell us About Complex Trait Evolution? | Irving-Pease EK et al. | — | 2021 | → |
| Recent advances of automated methods for searching and extracting genomic variant information from biomedical literature. | Lee K et al. | — | 2021 | → |
| Recent innovations and in-depth aspects of post-genome wide association study (Post-GWAS) to understand the genetic basis of complex phenotypes. | Mortezaei Z et al. | — | 2021 | → |
| Recessive/dominant model: Alternative choice in case-control-based genome-wide association studies. | Liu HM et al. | — | 2021 | → |
| Regulatory genomic circuitry of human disease loci by integrative epigenomics. | Boix CA et al. | — | 2021 | → |
| Replication of HLA class II locus association with susceptibility to podoconiosis in three Ethiopian ethnic groups. | Gebresilase T et al. | — | 2021 | → |
| Retinoblastoma genetics screening and clinical management. | Gupta H et al. | — | 2021 | → |
| Revisiting a GWAS peak in Arabidopsis thaliana reveals possible confounding by genetic heterogeneity. | Sasaki E et al. | — | 2021 | → |
| Risk assessment of type 2 diabetes in northern China based on the logistic regression model. | Li C et al. | — | 2021 | → |
| rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis. | Teo K et al. | — | 2021 | → |
| Shared genetic architecture between neuroticism, coronary artery disease and cardiovascular risk factors. | Torgersen K et al. | — | 2021 | → |
| Shared heritability of human face and brain shape. | Naqvi S et al. | — | 2021 | → |
| Single-Cell RNA Sequencing in Multiple Pathologic Types of Renal Cell Carcinoma Revealed Novel Potential Tumor-Specific Markers. | Su C et al. | — | 2021 | → |
| SNP and Haplotype Regional Heritability Mapping (SNHap-RHM): Joint Mapping of Common and Rare Variation Affecting Complex Traits. | Oppong RF et al. | — | 2021 | → |
| State-of-the-art genome inference in the human MHC. | Dilthey AT | — | 2021 | → |
| Statistical Learning Methods Applicable to Genome-Wide Association Studies on Unbalanced Case-Control Disease Data. | Dai X et al. | — | 2021 | → |
| Systems biology and machine learning approaches identify drug targets in diabetic nephropathy. | Abedi M et al. | — | 2021 | → |
| Testing and estimation of X-chromosome SNP effects: Impact of model assumptions. | Song Y et al. | — | 2021 | → |
| The genetic architecture of structural left-right asymmetry of the human brain. | Sha Z et al. | — | 2021 | → |
| The genetic impact of an Ebola outbreak on a wild gorilla population. | Fontsere C et al. | — | 2021 | → |
| The Genetics of Parkinson's Disease and Implications for Clinical Practice. | Day JO et al. | — | 2021 | → |
| The impact of age on genetic risk for common diseases. | Jiang X et al. | — | 2021 | → |
| The Impact of Pro-Inflammatory Cytokines on Alternative Splicing Patterns in Human Islets. | Wu W et al. | — | 2021 | → |
| The Impact of Pro-Inflammatory Cytokines on Alternative Splicing Patterns in Human Islets. | Wu W et al. | — | 2021 | → |
| The Missing Link Between Cancer-Associated Variants and LncRNAs. | Wilson C et al. | — | 2021 | → |
| The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case. | Wand H et al. | — | 2021 | → |
| The shared genetic architecture of schizophrenia, bipolar disorder and lifespan. | Muntané G et al. | — | 2021 | → |
| TIGER: The gene expression regulatory variation landscape of human pancreatic islets. | Alonso L et al. | — | 2021 | → |
| TiMEG: an integrative statistical method for partially missing multi-omics data. | Das S et al. | — | 2021 | → |
| Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults. | Li B et al. | — | 2021 | → |
| Transcriptional circuitry atlas of genetic diverse unstimulated murine and human macrophages define disparity in population-wide innate immunity. | Mishra B et al. | — | 2021 | → |
| Transcriptome prediction performance across machine learning models and diverse ancestries. | Okoro PC et al. | — | 2021 | → |
| Transcriptome-wide high-throughput mapping of protein-RNA occupancy profiles using POP-seq. | Srivastava M et al. | — | 2021 | → |
| Triangulating Molecular Evidence to Prioritize Candidate Causal Genes at Established Atopic Dermatitis Loci. | Sobczyk MK et al. | — | 2021 | → |
| Understanding the impact of SNPs associated with autism spectrum disorder on biological pathways in the human fetal and adult cortex. | Golovina E et al. | — | 2021 | → |
| Unveiling the Pathogenesis of Psychiatric Disorders Using Network Models. | Zuo Y et al. | — | 2021 | → |
| Using hierarchical similarity to examine the genetics of Behçet's disease. | Shenoi SJ et al. | — | 2021 | → |
| Using INFERNO to Infer the Molecular Mechanisms Underlying Noncoding Genetic Associations. | Amlie-Wolf A et al. | — | 2021 | → |
| Using off-target data from whole-exome sequencing to improve genotyping accuracy, association analysis and polygenic risk prediction. | Dou J et al. | — | 2021 | → |
| Validation of breast cancer risk assessment tools on a French-Canadian population-based cohort. | Jantzen R et al. | — | 2021 | → |
| Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome. | Borda V et al. | — | 2021 | → |
| Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits. | Thareja G et al. | — | 2021 | → |
| X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis. | Asselta R et al. | — | 2021 | → |
| 15 years of genome-wide association studies and no signs of slowing down. | Loos RJF | — | 2020 | → |
| 2018 Langley Award for Basic Research on Nicotine and Tobacco: Bringing Precision Medicine to Smoking Cessation. | Bierut LJ | — | 2020 | → |
| ABC-GWAS: Functional Annotation of Estrogen Receptor-Positive Breast Cancer Genetic Variants. | Manjunath M et al. | — | 2020 | → |
| A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease. | González-Serna D et al. | — | 2020 | → |
| A Custom Genotyping Array Reveals Population-Level Heterogeneity for the Genetic Risks of Prostate Cancer and Other Cancers in Africa. | Harlemon M et al. | — | 2020 | → |
| Adaptive Fisher method detects dense and sparse signals in association analysis of SNV sets. | Cai X et al. | — | 2020 | → |
| Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences. | Spracklen CN et al. | — | 2020 | → |
| A Fast Algorithm for Maximum Likelihood Estimation of Mixture Proportions Using Sequential Quadratic Programming. | Kim Y et al. | — | 2020 | → |
| A framework for pathway knowledge driven prioritization in genome-wide association studies. | Biswas S et al. | — | 2020 | → |
| Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk. | Jacinta-Fernandes A et al. | — | 2020 | → |
| Allele-Specific Transcript Abundance: A Pilot Study in Healthy Centenarians. | Tindale LC et al. | — | 2020 | → |
| AllergyGenDB: A literature and functional annotation-based omics database for allergic diseases. | Chen S et al. | — | 2020 | → |
| Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke. | von Berg J et al. | — | 2020 | → |
| A method for estimating coherence of molecular mechanisms in major human disease and traits. | Dozmorov MG et al. | — | 2020 | → |
| Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes. | Ali AT et al. | — | 2020 | → |
| Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics. | Hodonsky CJ et al. | — | 2020 | → |
| An integrated analysis of public genomic data unveils a possible functional mechanism of psoriasis risk via a long-range ERRFI1 enhancer. | Kubota N et al. | — | 2020 | → |
| An integrative machine learning approach to discovering multi-level molecular mechanisms of obesity using data from monozygotic twin pairs. | Kibble M et al. | — | 2020 | → |
| A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. | Tcheandjieu C et al. | — | 2020 | → |
| A powerful fine-mapping method for transcriptome-wide association studies. | Wu C et al. | — | 2020 | → |
| A preliminary computational outputs versus experimental results: Application of sTRAP, a biophysical tool for the analysis of SNPs of transcription factor-binding sites. | Moradifard S et al. | — | 2020 | → |
| A review of big data and medical research. | Mallappallil M et al. | — | 2020 | → |
| A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia. | Busonero F et al. | — | 2020 | → |
| A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients. | Parviainen R et al. | — | 2020 | → |
| Association of GWAS identified INSR variants (rs2059807 & rs1799817) with polycystic ovarian syndrome in Indian women. | Dakshinamoorthy J et al. | — | 2020 | → |
| Asthma epidemiology and risk factors. | Stern J et al. | — | 2020 | → |
| Bioinformatics Approaches for Anti-cancer Drug Discovery. | Li K et al. | — | 2020 | → |
| Blood DNA methylation sites predict death risk in a longitudinal study of 12, 300 individuals. | Colicino E et al. | — | 2020 | → |
| Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. | Fritsche LG et al. | — | 2020 | → |
| Cancer Risk Studies and Priority Areas for Cancer Risk Appraisal in Uganda. | Jatho A et al. | — | 2020 | → |
| Cardioinformatics: the nexus of bioinformatics and precision cardiology. | Khomtchouk BB et al. | — | 2020 | → |
| Cell Type-Specific Methylome-wide Association Studies Implicate Neurotrophin and Innate Immune Signaling in Major Depressive Disorder. | Chan RF et al. | — | 2020 | → |
| Changes in Proteomic Profiles are Related to Changes in BMI and Fat Distribution During 10 Years of Aging. | Lind L et al. | — | 2020 | → |
| circRNAprofiler: an R-based computational framework for the downstream analysis of circular RNAs. | Aufiero S et al. | — | 2020 | → |
| Clinical implications of recent advances in primary open-angle glaucoma genetics. | Choquet H et al. | — | 2020 | → |
| Combinatorial and statistical prediction of gene expression from haplotype sequence. | Alpay BA et al. | — | 2020 | → |
| Common genetic variation in obesity, lipid transfer genes and risk of Metabolic Syndrome: Results from IDEFICS/I.Family study and meta-analysis. | Nagrani R et al. | — | 2020 | → |
| Community Approaches for Integrating Environmental Exposures into Human Models of Disease. | Thessen AE et al. | — | 2020 | → |
| Comprehensive functional annotation of susceptibility variants associated with asthma. | Gautam Y et al. | — | 2020 | → |
| Comprehensive mapping of the human cytokine gene regulatory network. | Santoso CS et al. | — | 2020 | → |
| Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). | Brasó-Vives M et al. | — | 2020 | → |
| Deep learning of pharmacogenomics resources: moving towards precision oncology. | Chiu YC et al. | — | 2020 | → |
| Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer. | Wu J et al. | — | 2020 | → |
| Dense module searching for gene networks associated with multiple sclerosis. | Manuel AM et al. | — | 2020 | → |
| Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data. | Demirdjian L et al. | — | 2020 | → |
| Determinants of transcription factor regulatory range. | Chen CH et al. | — | 2020 | → |
| Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR. | Puig M et al. | — | 2020 | → |
| Developmental Pathways from Genetic, Prenatal, Parenting and Emotional/Behavioral Risk to Cortisol Reactivity and Adolescent Substance Use: A TRAILS Study. | Marceau K et al. | — | 2020 | → |
| Differences in local population history at the finest level: the case of the Estonian population. | Pankratov V et al. | — | 2020 | → |
| Differential DNA methylation of vocal and facial anatomy genes in modern humans. | Gokhman D et al. | — | 2020 | → |
| Discovering weaker genetic associations guided by known associations. | Wang H et al. | — | 2020 | → |
| Disease-Causing Mutations and Rearrangements in Long Non-coding RNA Gene Loci. | Aznaourova M et al. | — | 2020 | → |
| Diversity Outbred Mice Reveal the Quantitative Trait Locus and Regulatory Cells of HER2 Immunity. | Wei WZ et al. | — | 2020 | → |
| Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders. | Gerrard DT et al. | — | 2020 | → |
| Easy-HLA: a validated web application suite to reveal the full details of HLA typing. | Geffard E et al. | — | 2020 | → |
| Emerging Roles of RNA 3'-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders. | Nourse J et al. | — | 2020 | → |
| Empirical comparisons of multiple Mendelian randomization approaches in the presence of assortative mating. | Minică CC et al. | — | 2020 | → |
| EnhancerAtlas 2.0: an updated resource with enhancer annotation in 586 tissue/cell types across nine species. | Gao T et al. | — | 2020 | → |
| Epigenetic biomarkers and preterm birth. | Park B et al. | — | 2020 | → |
| Epigenetics meets proteomics in an epigenome-wide association study with circulating blood plasma protein traits. | Zaghlool SB et al. | — | 2020 | → |
| Evaluating drug targets through human loss-of-function genetic variation. | Minikel EV et al. | — | 2020 | → |
| Evaluating the informativeness of deep learning annotations for human complex diseases. | Dey KK et al. | — | 2020 | → |
| Exome Sequencing of Native Populations From the Amazon Reveals Patterns on the Peopling of South America. | Ribeiro-Dos-Santos AM et al. | — | 2020 | → |
| Exploring and visualizing large-scale genetic associations by using PheWeb. | Gagliano Taliun SA et al. | — | 2020 | → |
| Exploring the mechanism of TCM formulae in the treatment of different types of coronary heart disease by network pharmacology and machining learning. | Yang J et al. | — | 2020 | → |
| From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases. | Cano-Gamez E et al. | — | 2020 | → |
| Functional studies of GWAS variants are gaining momentum. | Lichou F et al. | — | 2020 | → |
| Gene-Based Association Mapping for Dental Caries in The GENEVA Consortium. | Wang Y et al. | — | 2020 | → |
| Gene mapping and functional annotation of GWAS of oral ulcers using FUMA software. | Jin X et al. | — | 2020 | → |
| Genetically Predicted Circulating Level of C-Reactive Protein Is Not Associated With Prostate Cancer Risk. | He C et al. | — | 2020 | → |
| Genetic and functional insights into the fractal structure of the heart. | Meyer HV et al. | — | 2020 | → |
| Genetic Associations in Four Decades of Multienvironment Trials Reveal Agronomic Trait Evolution in Common Bean. | MacQueen AH et al. | — | 2020 | → |
| Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults. | Hofer E et al. | — | 2020 | → |
| Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells. | Tran J et al. | — | 2020 | → |
| Genetic Predisposition to Colon and Rectal Adenocarcinoma Is Mediated by a Super-enhancer Polymorphism Coactivating <i>CD9</i> and <i>PLEKHG6</i>. | Ke J et al. | — | 2020 | → |
| Genetic Regulation of Atherosclerosis-Relevant Phenotypes in Human Vascular Smooth Muscle Cells. | Aherrahrou R et al. | — | 2020 | → |
| Genetic Risk Scores for Complex Disease Traits in Youth. | Xie T et al. | — | 2020 | → |
| Genetic Susceptibility Determines β-Cell Function and Fasting Glycemia Trajectories Throughout Childhood: A 12-Year Cohort Study (EarlyBird 76). | Carayol J et al. | — | 2020 | → |
| Genetic variants associated with alcohol dependence co-ordinate regulation of ADH genes in gastrointestinal and adipose tissues. | Hibberd R et al. | — | 2020 | → |
| Genetic variants entail type 2 diabetes as an innate immune disorder. | Bandesh K et al. | — | 2020 | → |
| Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis. | Lee J et al. | — | 2020 | → |
| Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma. | Semmes EC et al. | — | 2020 | → |
| Genome-wide association analysis of pulse wave velocity traits provide new insights into the causal relationship between arterial stiffness and blood pressure. | Rode M et al. | — | 2020 | → |
| Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. | Shah S et al. | — | 2020 | → |
| Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank. | Olafsdottir T et al. | — | 2020 | → |
| Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. | Winkler TW et al. | — | 2020 | → |
| Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis. | Kwon YC et al. | — | 2020 | → |
| Genome-Wide Association Study in Asians Identifies Novel Loci for High Myopia and Highlights a Nervous System Role in Its Pathogenesis. | Meguro A et al. | — | 2020 | → |
| Genome-Wide Association Study of Pain in Parkinson's Disease Implicates TRPM8 as a Risk Factor. | Williams NM et al. | — | 2020 | → |
| Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity. | Choquet H et al. | — | 2020 | → |
| Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. | Sarin KY et al. | — | 2020 | → |
| Genomics of Blood Pressure and Hypertension: Extending the Mosaic Theory Toward Stratification. | Lip S et al. | — | 2020 | → |
| GWAS Atlas: a curated resource of genome-wide variant-trait associations in plants and animals. | Tian D et al. | — | 2020 | → |
| High-depth African genomes inform human migration and health. | Choudhury A et al. | — | 2020 | → |
| <i>Cis</i>- and <i>Trans</i>-Acting Expression Quantitative Trait Loci of Long Non-Coding RNA in 2,549 Cancers With Potential Clinical and Therapeutic Implications. | Li W et al. | — | 2020 | → |
| Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk. | Sieh W et al. | — | 2020 | → |
| Identification of a robust non-coding RNA signature in diagnosing autism spectrum disorder by cross-validation of microarray data from peripheral blood samples. | Cheng W et al. | — | 2020 | → |
| Identifying cross-disease components of genetic risk across hospital data in the UK Biobank. | Cortes A et al. | — | 2020 | → |
| Identifying modifier genes for hypertrophic cardiomyopathy. | Chen Y et al. | — | 2020 | → |
| Identifying Shared Risk Genes for Asthma, Hay Fever, and Eczema by Multi-Trait and Multiomic Association Analyses. | Guo H et al. | — | 2020 | → |
| Identifying the immune interactions underlying HLA class I disease associations. | Debebe BJ et al. | — | 2020 | → |
| Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease. | Kim SS et al. | — | 2020 | → |
| Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets. | Dong Z et al. | — | 2020 | → |
| Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis. | Quick C et al. | — | 2020 | → |
| Integrative comparison of the genomic and transcriptomic landscape between prostate cancer patients of predominantly African or European genetic ancestry. | Yuan J et al. | — | 2020 | → |
| Intrinsic DNA topology as a prioritization metric in genomic fine-mapping studies. | Ainsworth HC et al. | — | 2020 | → |
| Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease. | Blumenau S et al. | — | 2020 | → |
| Iterative hard thresholding in genome-wide association studies: Generalized linear models, prior weights, and double sparsity. | Chu BB et al. | — | 2020 | → |
| Korean Genome Project: 1094 Korean personal genomes with clinical information. | Jeon S et al. | — | 2020 | → |
| Landscape and Regulation of m<sup>6</sup>A and m<sup>6</sup>Am Methylome across Human and Mouse Tissues. | Liu J et al. | — | 2020 | → |
| Landscape of cohesin-mediated chromatin loops in the human genome. | Grubert F et al. | — | 2020 | → |
| Large-Scale Topological Changes Restrain Malignant Progression in Colorectal Cancer. | Johnstone SE et al. | — | 2020 | → |
| Learning Lessons on Reproducibility and Replicability in Large Scale Genome-Wide Association Studies. | Lin X | — | 2020 | → |
| Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia. | Semmes EC et al. | — | 2020 | → |
| Leveraging genome-wide data to investigate differences between opioid use vs. opioid dependence in 41,176 individuals from the Psychiatric Genomics Consortium. | Polimanti R et al. | — | 2020 | → |
| Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits. | Bretherick AD et al. | — | 2020 | → |
| Loss-of-function tolerance of enhancers in the human genome. | Xu D et al. | — | 2020 | → |
| Lymphocyte DNA methylation mediates genetic risk at shared immune-mediated disease loci. | Clark AD et al. | — | 2020 | → |
| MAGGIE: leveraging genetic variation to identify DNA sequence motifs mediating transcription factor binding and function. | Shen Z et al. | — | 2020 | → |
| Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles. | Herrera-Rivero M et al. | — | 2020 | → |
| Mechanisms of tissue and cell-type specificity in heritable traits and diseases. | Hekselman I et al. | — | 2020 | → |
| Mendelian Randomization Identifies CpG Methylation Sites With Mediation Effects for Genetic Influences on BMD in Peripheral Blood Monocytes. | Yu F et al. | — | 2020 | → |
| Meta-Analysis of Differentially Expressed Genes in the Substantia Nigra in Parkinson's Disease Supports Phenotype-Specific Transcriptome Changes. | Phung DM et al. | — | 2020 | → |
| Methylome-wide association study of central adiposity implicates genes involved in immune and endocrine systems. | Justice AE et al. | — | 2020 | → |
| MicroPhenoDB Associates Metagenomic Data with Pathogenic Microbes, Microbial Core Genes, and Human Disease Phenotypes. | Yao G et al. | — | 2020 | → |
| Mitochondrial pathways in human health and aging. | Bornstein R et al. | — | 2020 | → |
| Modulation of hippocampal neuronal resilience during aging by the Hsp70/Hsp90 co-chaperone STI1. | Lackie RE et al. | — | 2020 | → |
| Multi-Ethnic Genome-Wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits. | Baldassari AR et al. | — | 2020 | → |
| Multi-ethnic transcriptome-wide association study of prostate cancer. | Fiorica PN et al. | — | 2020 | → |
| Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults. | Hillary RF et al. | — | 2020 | → |
| Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs. | Chen XF et al. | — | 2020 | → |
| ncRNA-eQTL: a database to systematically evaluate the effects of SNPs on non-coding RNA expression across cancer types. | Li J et al. | — | 2020 | → |
| ncRPheno: a comprehensive database platform for identification and validation of disease related noncoding RNAs. | Zhang W et al. | — | 2020 | → |
| Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations. | Rinker DC et al. | — | 2020 | → |
| NetCore: a network propagation approach using node coreness. | Barel G et al. | — | 2020 | → |
| Network Analysis Identifies Gene Regulatory Network Indicating the Role of RUNX1 in Human Intervertebral Disc Degeneration. | Khan NM et al. | — | 2020 | → |
| Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream of <i>GDF15</i>. | Linhares ND et al. | — | 2020 | → |
| Novel association of genetic variants in non-coding regulatory regions with HIV-1 infection. | Waqar W et al. | — | 2020 | → |
| Novel Mutations and Genes That Impact on Growth in Short Stature of Undefined Aetiology: The EPIGROW Study. | Perchard R et al. | — | 2020 | → |
| Omics in Neurodegenerative Disease: Hope or Hype? | Diaz-Ortiz ME et al. | — | 2020 | → |
| Partitioning gene-based variance of complex traits by gene score regression. | Zhang W et al. | — | 2020 | → |
| Pathway and network embedding methods for prioritizing psychiatric drugs. | Pershad Y et al. | — | 2020 | → |
| PGG.Han: the Han Chinese genome database and analysis platform. | Gao Y et al. | — | 2020 | → |
| Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis. | Condreay LD et al. | — | 2020 | → |
| Population-scale proteome variation in human induced pluripotent stem cells. | Mirauta BA et al. | — | 2020 | → |
| Potential regulatory SNPs in the <i>ATXN7L3B</i> and <i>KRT15</i> genes are associated with gender-specific colorectal cancer risk. | Leberfarb EY et al. | — | 2020 | → |
| Power calculation for the general two-sample Mendelian randomization analysis. | Deng L et al. | — | 2020 | → |
| Precise and Cost-Effective Nanopore Sequencing for Post-GWAS Fine-Mapping and Causal Variant Identification. | Magdy T et al. | — | 2020 | → |
| Prediction of blood test values under different lifestyle scenarios using time-series electronic health record. | Hasegawa T et al. | — | 2020 | → |
| Prediction of Nephrotoxicity Associated With Cisplatin-Based Chemotherapy in Testicular Cancer Patients. | Garcia SL et al. | — | 2020 | → |
| Predictive role of single nucleotide polymorphism (rs11614913) in the development of breast cancer in Pakistani population. | Ahmad M et al. | — | 2020 | → |
| 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. | Gleason KJ et al. | — | 2020 | → |
| Prioritizing genetic variants in GWAS with lasso using permutation-assisted tuning. | Yang S et al. | — | 2020 | → |
| Promoter-anchored chromatin interactions predicted from genetic analysis of epigenomic data. | Wu Y et al. | — | 2020 | → |
| Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB. | Bicak M et al. | — | 2020 | → |
| Protein-Protein interactions uncover candidate 'core genes' within omnigenic disease networks. | Ratnakumar A et al. | — | 2020 | → |
| Proteomic and Metabolomic Correlates of Healthy Dietary Patterns: The Framingham Heart Study. | Walker ME et al. | — | 2020 | → |
| PTWAS: investigating tissue-relevant causal molecular mechanisms of complex traits using probabilistic TWAS analysis. | Zhang Y et al. | — | 2020 | → |
| Qtlizer: comprehensive QTL annotation of GWAS results. | Munz M et al. | — | 2020 | → |
| Quantifying genetic effects on disease mediated by assayed gene expression levels. | Yao DW et al. | — | 2020 | → |
| Robust Hi-C Maps of Enhancer-Promoter Interactions Reveal the Function of Non-coding Genome in Neural Development and Diseases. | Lu L et al. | — | 2020 | → |
| rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression. | Pan G et al. | — | 2020 | → |
| SAMA: A Fast Self-Adaptive Memetic Algorithm for Detecting SNP-SNP Interactions Associated with Disease. | Yin Y et al. | — | 2020 | → |
| Sarcopenia-related traits and coronary artery disease: a bi-directional Mendelian randomization study. | Liu HM et al. | — | 2020 | → |
| Scleral HIF-1α is a prominent regulatory candidate for genetic and environmental interactions in human myopia pathogenesis. | Zhao F et al. | — | 2020 | → |
| Screening novel drug candidates for Alzheimer's disease by an integrated network and transcriptome analysis. | Peng Y et al. | — | 2020 | → |
| Septic Shock: A Genomewide Association Study and Polygenic Risk Score Analysis. | D'Urso S et al. | — | 2020 | → |
| Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations. | Quick C et al. | — | 2020 | → |
| Significance of Single-Nucleotide Variants in Long Intergenic Non-protein Coding RNAs. | Zou H et al. | — | 2020 | → |
| Single cell and genetic analyses reveal conserved populations and signaling mechanisms of gastrointestinal stromal niches. | Kim JE et al. | — | 2020 | → |
| Single-cell lineage analysis reveals extensive multimodal transcriptional control during directed beta-cell differentiation. | Weng C et al. | — | 2020 | → |
| Single-Cell Transcriptome Analysis Reveals Dynamic Cell Populations and Differential Gene Expression Patterns in Control and Aneurysmal Human Aortic Tissue. | Li Y et al. | — | 2020 | → |
| SNP2APA: a database for evaluating effects of genetic variants on alternative polyadenylation in human cancers. | Yang Y et al. | — | 2020 | → |
| SNPeffect: identifying functional roles of SNPs using metabolic networks. | Sarkar D et al. | — | 2020 | → |
| SNP-HLA Reference Consortium (SHLARC): HLA and SNP data sharing for promoting MHC-centric analyses in genomics. | Vince N et al. | — | 2020 | → |
| Statistical Impact of Sample Size and Imbalance on Multivariate Analysis <i>in silico</i> and A Case Study in the UK Biobank. | Zhang X et al. | — | 2020 | → |
| Study of genetic correlation between children's sleep and obesity. | Mei H et al. | — | 2020 | → |
| Summary-Based Methylome-Wide Association Analyses Suggest Potential Genetically Driven Epigenetic Heterogeneity of Alzheimer's Disease. | Nazarian A et al. | — | 2020 | → |
| Systematic identification of functional SNPs interrupting 3'UTR polyadenylation signals. | Shulman ED et al. | — | 2020 | → |
| Systems Level Analysis and Identification of Pathways and Key Genes Associated with Delirium. | Takahashi Y et al. | — | 2020 | → |
| The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery. | Sun J et al. | — | 2020 | → |
| The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations. | Rocha CS et al. | — | 2020 | → |
| The case for open science: rare diseases. | Rubinstein YR et al. | — | 2020 | → |
| The Causal Relationship of Circulating Triglyceride and Glycated Hemoglobin: A Mendelian Randomization Study. | Hsiung CN et al. | — | 2020 | → |
| 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. | COVID-19 Host Genetics Initiative | — | 2020 | → |
| The Genetic Architecture of the Clustering of Cardiometabolic Risk Factors: A Study of 8- to 17-Year-Old Chinese Twins. | Ji F et al. | — | 2020 | → |
| The influence of rare variants in circulating metabolic biomarkers. | Riveros-Mckay F et al. | — | 2020 | → |
| The open targets post-GWAS analysis pipeline. | Peat G et al. | — | 2020 | → |
| The Phenotypic Consequences of Genetic Divergence between Admixed Latin American Populations: Antioquia and Chocó, Colombia. | Chande AT et al. | — | 2020 | → |
| The Variant rs1784042 of the <i>SIDT2</i> Gene is Associated with Metabolic Syndrome through Low HDL-c Levels in a Mexican Population. | León-Reyes G et al. | — | 2020 | → |
| Translation of mouse model to human gives insights into periodontitis etiology. | Nashef A et al. | — | 2020 | → |
| Unraveling the role of salt-sensitivity genes in obesity with integrated network biology and co-expression analysis. | Sabir JSM et al. | — | 2020 | → |
| U-PASS: unified power analysis and forensics for qualitative traits in genetic association studies. | Gao Z et al. | — | 2020 | → |
| VariantSpark: Cloud-based machine learning for association study of complex phenotype and large-scale genomic data. | Bayat A et al. | — | 2020 | → |
| What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis? | Vasilopoulou C et al. | — | 2020 | → |
| Workflow for the Implementation of Precision Genomics in Healthcare. | Mehandziska S et al. | — | 2020 | → |
| A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context. | Gallois A et al. | — | 2019 | → |
| Admixture in Mammals and How to Understand Its Functional Implications: On the Abundance of Gene Flow in Mammalian Species, Its Impact on the Genome, and Roads into a Functional Understanding. | Fontsere C et al. | — | 2019 | → |
| A Gene-Environment Interaction Between Smoking and Gene polymorphisms Provides a High Risk of Two Subgroups of Sarcoidosis. | Rivera NV et al. | — | 2019 | → |
| A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population. | Nudel R et al. | — | 2019 | → |
| A meta-analysis of genome-wide association studies of epigenetic age acceleration. | Gibson J et al. | — | 2019 | → |
| An epigenome-wide association study of sex-specific chronological ageing. | McCartney DL et al. | — | 2019 | → |
| A network-based approach to identify deregulated pathways and drug effects in metabolic syndrome. | Misselbeck K et al. | — | 2019 | → |
| A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans. | Pendergrass SA et al. | — | 2019 | → |
| 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. | King EA et al. | — | 2019 | → |
| A SIMPLE, CONSISTENT ESTIMATOR OF SNP HERITABILITY FROM GENOME-WIDE ASSOCIATION STUDIES. | Schwartzman A et al. | — | 2019 | → |
| Assessing concordance among human, in silico predictions and functional assays on genetic variant classification. | Luo J et al. | — | 2019 | → |
| Assessing the performance of genome-wide association studies for predicting disease risk. | Patron J et al. | — | 2019 | → |
| BDNF genetic variants and methylation: effects on cognition in major depressive disorder. | Ferrer A et al. | — | 2019 | → |
| Biological and practical implications of genome-wide association study of schizophrenia using Bayesian variable selection. | Rowe B et al. | — | 2019 | → |
| Candidate Regulators of Dyslipidemia in Chromosome 1 Substitution Lines Using Liver Co-Expression Profiling Analysis. | Xu F et al. | — | 2019 | → |
| CLARITE Facilitates the Quality Control and Analysis Process for EWAS of Metabolic-Related Traits. | Lucas AM et al. | — | 2019 | → |
| CNet: a multi-omics approach to detecting clinically associated, combinatory genomic signatures. | Jia P et al. | — | 2019 | → |
| Computational resources associating diseases with genotypes, phenotypes and exposures. | Zhang W et al. | — | 2019 | → |
| Development and validation of a novel and robust blood small nuclear RNA signature in diagnosing autism spectrum disorder. | Zhou J et al. | — | 2019 | → |
| Dissecting the Role of NF-κb Protein Family and Its Regulators in Rheumatoid Arthritis Using Weighted Gene Co-Expression Network. | Sabir JSM et al. | — | 2019 | → |
| DSNetwork: An Integrative Approach to Visualize Predictions of Variants' Deleteriousness. | Lemaçon A et al. | — | 2019 | → |
| Edematous severe acute malnutrition is characterized by hypomethylation of DNA. | Schulze KV et al. | — | 2019 | → |
| Evaluation of gene-environment interactions for colorectal cancer susceptibility loci using case-only and case-control designs. | Song N et al. | — | 2019 | → |
| Exploring effective approaches for haplotype block phasing. | Al Bkhetan Z et al. | — | 2019 | → |
| Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. | Pott J et al. | — | 2019 | → |
| Genetic correlations of psychiatric traits with body composition and glycemic traits are sex- and age-dependent. | Hübel C et al. | — | 2019 | → |
| Genetic polymorphisms associated with sleep-related phenotypes; relationships with individual nocturnal symptoms of insomnia in the HUNT study. | Bragantini D et al. | — | 2019 | → |
| Genome-wide Analyses of Chromatin State in Human Mast Cells Reveal Molecular Drivers and Mediators of Allergic and Inflammatory Diseases. | Cildir G et al. | — | 2019 | → |
| Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease | Winkler TW et al. | — | 2019 | — |
| Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico. | Dutil J et al. | — | 2019 | → |
| GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. | López-Isac E et al. | — | 2019 | → |
| GWAS studies reveal a possible genetic link between cancer and suicide attempt. | Voskarides K et al. | — | 2019 | → |
| Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans. | Park CS et al. | — | 2019 | → |
| Identification of disease-associated loci using machine learning for genotype and network data integration. | Leal LG et al. | — | 2019 | → |
| Influence of genetic polymorphism on transcriptional enhancer activity in the malaria vector Anopheles coluzzii. | Nardini L et al. | — | 2019 | → |
| Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania. | Malaria Genomic Epidemiology Network | — | 2019 | → |
| Integrating Clinical Data and Imputed Transcriptome from GWAS to Uncover Complex Disease Subtypes: Applications in Psychiatry and Cardiology. | Yin L et al. | — | 2019 | → |
| Interval breast cancer is associated with other types of tumors. | Grassmann F et al. | — | 2019 | → |
| KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern. | Teumer A et al. | — | 2019 | → |
| Mapping the Germline and Somatic Mutation Interaction Landscape in Indolent and Aggressive Prostate Cancers. | Mamidi TKK et al. | — | 2019 | → |
| Meta-Analysis of SNP-Environment Interaction with Heterogeneity. | Jin Q et al. | — | 2019 | → |
| Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy. | Nath AP et al. | — | 2019 | → |
| Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated. | Cabrera CP et al. | — | 2019 | → |
| PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations. | Kamat MA et al. | — | 2019 | → |
| Reconstruction of Cell-type-Specific Interactomes at Single-Cell Resolution. | Mohammadi S et al. | — | 2019 | → |
| RSAT variation-tools: An accessible and flexible framework to predict the impact of regulatory variants on transcription factor binding. | Santana-Garcia W et al. | — | 2019 | → |
| Single nucleotide polymorphisms associated with susceptibility for development of colorectal cancer: Case-control study in a Basque population. | Alegria-Lertxundi I et al. | — | 2019 | → |
| SNP eQTL status and eQTL density in the adjacent region of the SNP are associated with its statistical significance in GWA studies. | Gorlov I et al. | — | 2019 | → |
| The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes. | Ramos-Rodríguez M et al. | — | 2019 | → |
| The impact of short tandem repeat variation on gene expression. | Fotsing SF et al. | — | 2019 | → |