The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.
paper
Cited
Public
- Authors
- Buniello, Annalisa; MacArthur, Jacqueline A L; Cerezo, Maria; Harris, Laura W; Hayhurst, James; Malangone, Cinzia; McMahon, Aoife; Morales, Joannella; Mountjoy, Edward; Sollis, Elliot; Suveges, Daniel; Vrousgou, Olga; Whetzel, Patricia L; Amode, Ridwan; Guillen, Jose A; Riat, Harpreet S; Trevanion, Stephen J; Hall, Peggy; Junkins, Heather; Flicek, Paul; Burdett, Tony; Hindorff, Lucia A; Cunningham, Fiona; Parkinson, Helen
- Year
- 2019
- Journal
- Nucleic acids research
- PMID
- 30445434
- DOI
- 10.1093/nar/gky1120
- PMCID
- PMC6323933
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome arrays with 1000 new associations added for these technologies. As of September 2018, the Catalog contains 5687 GWAS comprising 71673 variant-trait associations from 3567 publications. New content includes 284 full P-value summary statistics datasets for genome-wide and new targeted array studies, representing 6 × 109 individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by ∼90000 unique users who viewed >1 million pages. We have improved data access with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database. Summary statistics provision is supported by a new format proposed as a community standard for summary statistics data representation. This format was derived from our experience in standardizing heterogeneous submissions, mapping formats and in harmonizing content. Availability: https://www.ebi.ac.uk/gwas/.
GWAS Catalog associations for coronary artery disease plotted across all chromosomes. Associations added after 2017 represented in blue, previous associations in orange. The dashed red line indicates genome-wide significance at P-value = 5 × 10−8.
The increasing proportion of studies with available SS in the GWAS Catalog and newly added studies in each month from December 2016, when these were first available.
Illustrative query results for diabetes mellitus showing: facets for publications and traits linked to the query term (A), a summary of the trait context and ontology definition (B), complete trait information with navigation to studies, associations, LocusZoom and data download link (C), tabulated variants associated with the query (D).
Plot of linkage disequilibrium data for variants within 50 kb of rs2981579.
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| Citation | PMID | DOI | Status |
|---|---|---|---|
| AstleW.J., EldingH., JiangT., AllenD., RuklisaD., MannA.L., MeadD., BoumanH., Riveros-MckayF., KostadimaM.A. The allelic landscape of human blood cell trait variation and links to common complex disease. Cell. 2016; 167:1415–1429.2786325210.1016/j.cell.2016.10.042PMC5300907 | — | — | — |
| BarbanN., JansenR., de VlamingR., VaezA., MandemakersJ.J., TropfF.C., ShenX., WilsonJ.F., ChasmanD.I., NolteI.M. Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nat. Genet.2016; 48:1462–1472.2779862710.1038/ng.3698PMC5695684 | — | — | — |
| ConsortiumGTEx Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science. 2015; 348:648–660.2595400110.1126/science.1262110PMC4547484 | — | — | — |
| FehringerG., KraftP., PharoahP.D., EelesR.A., ChatterjeeN., SchumacherF.R., SchildkrautJ.M., LindströmS., BrennanP., BickeböllerH. Cross-Cancer Genome-Wide analysis of lung, ovary, breast, prostate, and colorectal cancer reveals novel pleiotropic associations. Cancer Res.2016; 76:5103–5114.2719719110.1158/0008-5472.CAN-15-2980PMC5010493 | — | — | — |
| GraffM., ScottR.A., JusticeA.E., YoungK.L., FeitosaM.F., BarataL., WinklerT.W., ChuA.Y., MahajanA., HadleyD. Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. PLoS Genet.2017; 13:e1006528.2844850010.1371/journal.pgen.1006528PMC5407576 | — | — | — |
| HuangH., FangM., JostinsL., Umićević MirkovM., BoucherG., AndersonC.A., AndersenV., CleynenI., CortesA., CrinsF. Fine-mapping inflammatory bowel disease loci to single-variant resolution. Nature. 2017; 547:173–178.2865820910.1038/nature22969PMC5511510 | — | — | — |
| JuppS., BurdettT., LeroyC., ParkinsonH. A new ontology lookup service at EMBL-EBI. Semantic Web Applic. Tools Life Sci.1546:118–119. | — | — | — |
| JusticeA.E., WinklerT.W., FeitosaM.F., GraffM., FisherV.A., YoungK., BarataL., DengX., CzajkowskiJ., HadleyD. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Nat. Commun.2017; 8:14977.2844362510.1038/ncomms14977PMC5414044 | — | — | — |
| KoscielnyG., AnP., Carvalho-SilvaD., ChamJ.A., FumisL., GasparyanR., HasanS., KaramanisN., MaguireM., PapaE. Open Targets: a platform for therapeutic target identification and validation. Nucleic Acids Res.2017; 45:D985–D994.2789966510.1093/nar/gkw1055PMC5210543 | — | — | — |
| LangefeldC.D., AinsworthH.C., GrahamD.S.C., KellyJ.A., ComeauM.E., MarionM.C., HowardT.D., RamosP.S., CrokerJ.A., MorrisD.L. Transancestral mapping and genetic load in systemic lupus erythematosus. Nat. Commun.2017; 8:16021.2871446910.1038/ncomms16021PMC5520018 | — | — | — |
| MacArthurJ., BowlerE., CerezoM., GilL., HallP., HastingsE., JunkinsH., McMahonA., MilanoA., MoralesJ. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res.2017; 45:D896–D901.2789967010.1093/nar/gkw1133PMC5210590 | — | — | — |
| MaloneJ., HollowayE., AdamusiakT., KapusheskyM., ZhengJ., KolesnikovN., ZhukovaA., BrazmaA., ParkinsonH. Modeling sample variables with an Experimental Factor Ontology. Bioinformatics. 2010; 26:1112–1118.2020000910.1093/bioinformatics/btq099PMC2853691 | — | — | — |
| ManolioT.A., BrooksL.D., CollinsF.S. A HapMap harvest of insights into the genetics of common disease. J. Clin. Invest.2008; 118:1590–1605.1845198810.1172/JCI34772PMC2336881 | — | — | — |
| MichailidouK., BeesleyJ., LindstromS., CanisiusS., DennisJ., LushM.J., MaranianM.J., BollaM.K., WangQ., ShahM. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat. Genet.2015; 47:373–380.2575162510.1038/ng.3242PMC4549775 | — | — | — |
| MichailidouK., LindströmS., DennisJ., BeesleyJ., HuiS., KarS., LemaçonA., SoucyP., GlubbD., RostamianfarA. Association analysis identifies 65 new breast cancer risk loci. Nature. 2017; 551:92–94.2905968310.1038/nature24284PMC5798588 | — | — | — |
| NelsonC.P., GoelA., ButterworthA.S., KanoniS., WebbT.R., MarouliE., ZengL., NtallaI., LaiF.Y., HopewellJ.C. Association analyses based on false discovery rate implicate new loci for coronary artery disease. Nat. Genet.2017; 49:1385–1391.2871497510.1038/ng.3913 | — | — | — |
| NelsonM.R., TipneyH., PainterJ.L., ShenJ., NicolettiP., ShenY., FloratosA., ShamP.C., LiM.J., WangJ. The support of human genetic evidence for approved drug indications. Nat. Genet.2015; 47:856.2612108810.1038/ng.3314 | — | — | — |
| OngenH., BrownA.A., DelaneauO., PanousisN.I., NicaA.C., ConsortiumGTEx, DermitzakisE.T. Estimating the causal tissues for complex traits and diseases. Nat. Genet.2017; 49:1676–1683.2905871510.1038/ng.3981 | — | — | — |
| PaternosterL., TillingK., Davey SmithG. Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges. PLos Genet.2017; 13:e1006944.2898150110.1371/journal.pgen.1006944PMC5628782 | — | — | — |
| PhelanC.M., KuchenbaeckerK.B., TyrerJ.P., KarS.P., LawrensonK., WinhamS.J., DennisJ., PirieA., RigganM.J., ChornokurG. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat. Genet.2017; 49:680–691.2834644210.1038/ng.3826PMC5612337 | — | — | — |
| PlengeR.M., ScolnickE.M., AltshulerD. Validating therapeutic targets through human genetics. Nat Rev Drug Discov. 2013; 12:581–594.2386811310.1038/nrd4051 | — | — | — |
| ProkopenkoI., PoonW., MägiR., PrasadB.R., SalehiS.A., AlmgrenP., OsmarkP., Bouatia-NajiN., WierupN., FallT. A central role for GRB10 in regulation of islet function in man. PLoS Genet.2014; 10:e1004235.2469940910.1371/journal.pgen.1004235PMC3974640 | — | — | — |
| PruimR.J., WelchR.P., SannaS., TeslovichT.M., ChinesP.S., GliedtT.P., BoehnkeM., AbecasisG.R., WillerC.J. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics. 2010; 26:2336–2337.2063420410.1093/bioinformatics/btq419PMC2935401 | — | — | — |
| PurcellS., NealeB., Todd-BrownK., ThomasL., FerreiraM.A., BenderD., MallerJ., SklarP., de BakkerP.I., DalyM.J., ShamP.C. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet.2007; 81:559–575.1770190110.1086/519795PMC1950838 | — | — | — |
| ScottR.A., ScottL.J., MägiR., MarulloL., GaultonK.J., KaakinenM., PervjakovaN., PersT.H., JohnsonA.D., EicherJ.D. An expanded Genome-Wide association study of type 2 diabetes in Europeans. Diabetes. 2017; 66:2888–2902.2856627310.2337/db16-1253PMC5652602 | — | — | — |
| SioutosN., de CoronadoS., HaberM.W., HartelF.W., ShaiuW.-L., WrightL.W. NCI Thesaurus: A semantic model integrating cancer-related clinical and molecular information. J. Biomed. Inform.2007; 40:30–43.1669771010.1016/j.jbi.2006.02.013 | — | — | — |
| SmelandO.B., FreiO., KauppiK., HillW.D., LiW., WangY., KrullF., BettellaF., EriksenJ.A., WitoelarA. Identification of genetic loci jointly influencing schizophrenia risk and the cognitive traits of Verbal-Numerical reasoning, reaction time, and general cognitive function. JAMA Psychiatry. 2017; 74:1065–1075.2874671510.1001/jamapsychiatry.2017.1986PMC5710474 | — | — | — |
| The 1000 Genomes Project Consortium A global reference for human genetic variation. Nature. 2015; 526:68.2643224510.1038/nature15393PMC4750478 | — | — | — |
| The International HapMap Consortium The international HapMap project. Nature. 2003; 426:789.1468522710.1038/nature02168 | — | — | — |
| TrynkaG., HuntK.A., BockettN.A., RomanosJ., MistryV., SzperlA., BakkerS.F., BardellaM.T., Bhaw-RosunL., CastillejoG. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat. Genet.2011; 43:1193–1201.2205723510.1038/ng.998PMC3242065 | — | — | — |
| TynerC., BarberG.P., CasperJ., ClawsonH., DiekhansM., EisenhartC., FischerC.M., GibsonD., GonzalezJ.N., GuruvadooL. The UCSC Genome Browser database: 2017 update. Nucleic Acids Res.2017; 45:D626–D634.2789964210.1093/nar/gkw1134PMC5210591 | — | — | — |
| WheelerE., LeongA., LiuC.-T., HivertM.-F., StrawbridgeR.J., PodmoreC., LiM., YaoJ., SimX., HongJ. Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: a transethnic genome-wide meta-analysis. PLoS Med.2017; 14:e1002383.2889825210.1371/journal.pmed.1002383PMC5595282 | — | — | — |
| WilkinsonM.D., DumontierM., AalbersbergI.J., AppletonG., AxtonM., BaakA., BlombergN., BoitenJ.-W., da Silva SantosL.B., BourneP.E. The FAIR Guiding Principles for scientific data management and stewardship. Scientific Data. 2016; 3:160018.2697824410.1038/sdata.2016.18PMC4792175 | — | — | — |
| YatesA., AkanniW., AmodeM.R., BarrellD., BillisK., Carvalho-SilvaD., CumminsC., ClaphamP., FitzgeraldS., GilL. Ensembl 2016. Nucleic Acids Res.2016; 44:D710–D716.2668771910.1093/nar/gkv1157PMC4702834 | — | — | — |
| ZenginiE., HatzikotoulasK., TachmazidouI., SteinbergJ., HartwigF.P., SouthamL., HackingerS., BoerC.G., StyrkarsdottirU., GillyA. Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis. Nat. Genet.2018; 50:549–558.2955969310.1038/s41588-018-0079-yPMC5896734 | — | — | — |
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|---|---|---|---|---|
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| HapScoreDB: a database of protein language model functional scores for haplotype-resolved protein sequences. | Mazza F et al. | — | 2026 | → |
| Hemispheric Asymmetry in the Genetic Overlap between Schizophrenia and White Matter Microstructure. | Zhang Y et al. | — | 2026 | → |
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| Discovery of Novel Pain Regulators Through Integration of Cross-Species High-Throughput Data. | Chen Y et al. | — | 2025 | → |
| Disease clusters and their genetic determinants following a diagnosis of depression: analyses based on a novel three-dimensional disease network approach. | Hou C et al. | — | 2025 | → |
| Disease-linked regulatory DNA variants and homeostatic transcription factors in epidermis. | Porter DF et al. | — | 2025 | → |
| Dissecting causal relationships between dietary factors and intracerebral hemorrhage: A Mendelian randomization study. | Wang P et al. | — | 2025 | → |
| Dissecting the genetic architecture of circadian rhythms in human tissues using a quantitative circadian deviation score. | Li Z et al. | — | 2025 | → |
| DNA sequence analysis landscape: a comprehensive review of DNA sequence analysis task types, databases, datasets, word embedding methods, and language models. | Asim MN et al. | — | 2025 | → |
| Elevated synaptic PKA activity and abnormal striatal dopamine signaling in Akap11 mutant mice, a genetic model of schizophrenia and bipolar disorder. | Song BJ et al. | — | 2025 | → |
| Enhancer RNA Transcriptome-Wide Association Study Reveals a Distinctive Class of Pan-Cancer Susceptibility eRNAs. | Chen W et al. | — | 2025 | → |
| Epigenome-wide association study of nuclear DNA methylation in relation to mitochondrial heteroplasmy. | Lai M et al. | — | 2025 | → |
| Epigenome-wide DNA methylation association study of CHIP provides insight into perturbed gene regulation. | Kirmani S et al. | — | 2025 | → |
| Establishing a robust triangulation framework to explore the relationship between hearing loss and Parkinson's disease. | Zhang H et al. | — | 2025 | → |
| Establishing Best Practices for Clinical GWAS: Tackling Imputation and Data Quality Challenges. | Casaburi G 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 multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications. | Dias JA et al. | — | 2025 | → |
| Evolution is in the details: Regulatory differences in modern human and Neanderthal. | Barker HR et al. | — | 2025 | → |
| Exome sequencing identifies genes for socioeconomic status in 350,770 individuals. | Wu XR et al. | — | 2025 | → |
| Expanding scope of genetic studies in the era of biobanks. | Dutta D et al. | — | 2025 | → |
| Exploring beyond diagnoses in electronic health records to improve discovery: a review of the phenome-wide association study. | Wan NC et al. | — | 2025 | → |
| Exploring potential plasma drug targets for cholelithiasis through multiancestry Mendelian randomization. | Liu X et al. | — | 2025 | → |
| Exploring Risk and Protective Factors in Parkinson's Disease. | Beheshti I | — | 2025 | → |
| Exploring the early drivers of pain in Parkinson's disease. | Liu S et al. | — | 2025 | → |
| Exploring the landscape of autoimmune disorder-associated genes and their impact on immune microenvironment in breast cancer patients. | Peng W et al. | — | 2025 | → |
| Exploring the Link Between C-Reactive Protein Change and Stroke Risk: Insights From a Prospective Cohort Study and Genetic Evidence. | Ling Y et al. | — | 2025 | → |
| Exploring therapeutic targets for hepatocellular carcinoma through druggable genes. | Tang C et al. | — | 2025 | → |
| Exploring the Role of Glycine Metabolism in Coronary Artery Disease: Insights from Human Genetics and Mouse Models. | Biswas S et al. | — | 2025 | → |
| Exploring the role of inflammation, immunity, and metabolism in colorectal cancer via mendelian randomization approach. | Zhou L et al. | — | 2025 | → |
| Exploring the shared genetic basis of attention-deficit/hyperactivity disorder and obstructive sleep apnea: A multi-omics analysis. | Huang Y et al. | — | 2025 | → |
| FarmGTEx TWAS-server: An Interactive Web Server for Customized TWAS Analysis. | Zhang Z 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 | → |
| Functional analysis of cancer-associated germline risk variants. | Kellman LN et al. | — | 2025 | → |
| Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits. | Barbitoff YA et al. | — | 2025 | → |
| Functional phenotyping of genomic variants using joint multiomic single-cell DNA-RNA sequencing. | Lindenhofer D et al. | — | 2025 | → |
| Gene clusters linked to insulin resistance identified in a genome-wide study of the Taiwan Biobank population. | Lin E et al. | — | 2025 | → |
| Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility. | Betti MJ et al. | — | 2025 | → |
| Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks. | Ho CH et al. | — | 2025 | → |
| Genetic architecture of plasma metabolome in 254,825 individuals. | Qiang YX et al. | — | 2025 | → |
| Genetic Biomarkers for Periodontal Diseases: A Systematic Review. | Dommisch H et al. | — | 2025 | → |
| Genetic Contribution to Treatment-Related Dyslipidemia in Adult Survivors of Childhood Cancer: Findings from the CCSS, SJLIFE, and DCCSS-LATER Cohorts. | Bolier M et al. | — | 2025 | → |
| Genetic coupling of enhancer activity and connectivity in gene expression control. | Ray-Jones H et al. | — | 2025 | → |
| Genetic factors in the risk assessment of preeclampsia: a review of recent findings. | Bildirici AE et al. | — | 2025 | → |
| Genetic modifiers of asthma response to air pollution in children: An African ancestry GWAS and PM<sub>2.5</sub> polygenic risk score study. | Kelchtermans J et al. | — | 2025 | → |
| Genetic risk and polygenic risk score assessment of prediabetes and progression to type 2 diabetes. | Aliyu U et al. | — | 2025 | → |
| Genetics-nutrition interactions control diurnal enhancer-promoter dynamics and liver lipid metabolism. | Zhou D et al. | — | 2025 | → |
| Genetic susceptibility to recurrent vulvovaginal candidiasis in an African population from Nairobi, Kenya. | Omosa-Manyonyi GS et al. | — | 2025 | → |
| Genetic variability of the MTHFR rs1801133 gene polymorphism and role of zinc level in obese patients. | Alnaji HA et al. | — | 2025 | → |
| Genetic Variations in <i>BCL3</i>, <i>MDM4</i>, <i>KLF14</i>, and <i>miR-146a</i> and Their Associations with the Predisposition and Progression of Myeloproliferative Disorder and Chronic Myeloid Leukemia Patients. | Al-Amer OM et al. | — | 2025 | → |
| Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. | Strom NI et al. | — | 2025 | → |
| Genome-wide analysis identifies novel shared loci between depression and white matter microstructure. | Zhao Q et al. | — | 2025 | → |
| Genome-wide association assessment between immune cells and osteoarthritis: a bidirectional Mendelian randomization study. | Zheng J et al. | — | 2025 | → |
| Genome-wide association studies are enriched for interacting genes. | Nguyen PT et al. | — | 2025 | → |
| Genome-wide association study identifying novel risk variants associated with glycaemic traits in the continental African AWI-Gen cohort. | Chebii VJ et al. | — | 2025 | → |
| Genome-wide association study of childhood B-cell acute lymphoblastic leukemia reveals novel African ancestry-specific susceptibility loci. | Im C et al. | — | 2025 | → |
| Genome-wide association study of copy number variation and early growth traits in inner Mongolian cashmere goats. | Liu Y et al. | — | 2025 | → |
| Genome-wide association study of urinary cadmium levels in current smokers from the multiethnic cohort study. | Sullivan SM et al. | — | 2025 | → |
| Genome-wide association study reveals candidate loci on ECA1 and ECA9 for withers height in Friesian horses. | Steensma MJ et al. | — | 2025 | → |
| Genome-wide discovery of multiple sclerosis genetic risk variant allelic regulatory activity. | Granitto M et al. | — | 2025 | → |
| Genome-wide functional annotation of variants: a systematic review of state-of-the-art tools, techniques and resources. | Pilalis E et al. | — | 2025 | → |
| Genome-wide Pleiotropy Analysis Reveals Shared Genetic Associations between Type 2 Diabetes Mellitus and Subcortical Brain Volumes. | Zhao Q et al. | — | 2025 | → |
| Genomic Characterisation of the Relationship and Causal Links Between Vascular Calcification, Alzheimer's Disease, and Cognitive Traits. | Adewuyi EO et al. | — | 2025 | → |
| Genomic determinants of biological age estimated by deep learning applied to retinal images. | Huang Y et al. | — | 2025 | → |
| Genomic Exploration of Essential Hypertension in African-Brazilian Quilombo Populations: A Comprehensive Approach With Pedigree Analysis and Family-Based Association Studies. | Borges VM et al. | — | 2025 | → |
| Genomic regions associated with alpha-fetoproteins identified through a population-scale study in the Taiwan biobank. | Lin E et al. | — | 2025 | → |
| Genotype inference from aggregated chromatin accessibility data reveals genetic regulatory mechanisms. | Wenz BM et al. | — | 2025 | → |
| GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets. | Dand N et al. | — | 2025 | → |
| Health risks and genetic architecture of objectively measured multidimensional sleep health. | Zhang S et al. | — | 2025 | → |
| How accurate are machine learning models in predicting anti-seizure medication responses: A systematic review. | Abdaltawab A et al. | — | 2025 | → |
| Human genetic variation determines 24-hour rhythmic gene expression and disease risk. | Chen Y et al. | — | 2025 | → |
| Human-specific gene expansions contribute to brain evolution. | Soto DC et al. | — | 2025 | → |
| Identification and validation of depression-associated genetic variants in the UK Biobank cohort with transcriptome and DNA methylation analyses in independent cohorts. | Lafta MS et al. | — | 2025 | → |
| Identification of dynamic network biomarker <i>ITGB1</i> for erlotinib pre-resistance using single-cell differential covariance entropy. | Gu X et al. | — | 2025 | → |
| Identification of sepsis biomarkers through glutamine metabolism-mediated immune regulation: a comprehensive analysis employing mendelian randomization, multi-omics integration, and machine learning. | Shi Z et al. | — | 2025 | → |
| Identification of shared genetic loci for asthma, allergic rhinitis, and pollinosis in East Asians. | Wang D et al. | — | 2025 | → |
| Identification of specific brain cell types associated with the interplay between inflammatory bowel diseases and neuropsychiatric disorders by Cell-Stratified Mendelian Randomisation. | Zhou Q et al. | — | 2025 | → |
| Identifying genetic overlaps in obesity and metabolic disorders unlocking unique and shared mechanistic insights. | Fu L et al. | — | 2025 | → |
| Identifying genetic variants for brain connectivity using Ball Covariance Ranking and Aggregation. | Dai W et al. | — | 2025 | → |
| Impact of accelerated biological aging and genetic variation on esophageal adenocarcinoma: Joint and interaction effect in a prospective cohort. | Zhao R et al. | — | 2025 | → |
| Incorporating local ancestry information to predict genetically associated DNA methylation in admixed populations. | Cheng Y et al. | — | 2025 | → |
| Inflammatory cytokines and oral cancer risk: an integrated study combining two-sample Mendelian randomization with experimental validation. | Xia Y et al. | — | 2025 | → |
| Insights Into Chronic Low Back Pain Etiology: Population-Based Genome-Wide Association Study Identifies 18 Risk Loci. | Martinsen AE et al. | — | 2025 | → |
| Integrated bulk and single cell sequencing with experimental validation identifies type 2 diabetes biomarkers. | Cao Y et al. | — | 2025 | → |
| Integrating genetic variation with deep learning provides context for variants impacting transcription factor binding during embryogenesis. | Sigalova OM et al. | — | 2025 | → |
| Integrating Mendelian randomization and literature-mined evidence for breast cancer risk factors. | Vabistsevits M et al. | — | 2025 | → |
| Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation. | Liu C et al. | — | 2025 | → |
| Integrative Epigenomic and Targeted Protein Analysis in MRONJ: Correlating DNA Methylation with Bone Biomarkers. | Alshammari RA et al. | — | 2025 | → |
| Integrative genome-wide association studies, proteome-wide Mendelian randomization, and single-cell RNA sequencing identify interleukin-6 receptor protein as a therapeutic target in aortic aneurysm. | Bai Z et al. | — | 2025 | → |
| Integrative Multi-Omics Approach for Improving Causal Gene Identification. | King A et al. | — | 2025 | → |
| Investigating causal effects of income on health using two-sample Mendelian randomisation. | Igelström E et al. | — | 2025 | → |
| Isolation and Characterization of the Adamantinomatous Craniopharyngioma Primary Cells with Cancer-Associated Fibroblast Features. | Chen D et al. | — | 2025 | → |
| Large-scale exome sequencing identified 18 novel genes for neuroticism in 394,005 UK-based individuals. | Wu XR et al. | — | 2025 | → |
| Large-scale genome-wide analyses of stuttering. | Polikowsky HG et al. | — | 2025 | → |
| Large-scale genome-wide interaction analyses on multiple cardiometabolic risk factors to identify age-specific genetic risk factors. | Ao L et al. | — | 2025 | → |
| Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits. | Petty LE et al. | — | 2025 | → |
| Large-scale multi-trait genome-wide analysis for inflammatory bowel disease reveals new insights into its molecular mechanisms and emphasizes the roles of systemic immune regulation. | Zhu Z et al. | — | 2025 | → |
| Largest-Scale Genomic Resource Reconstructing the Genetic Origin, Population Structure, and Biological Adaptations of the Hui People. | He G et al. | — | 2025 | → |
| Liver molecular networks associated with drinking behavior in nonhuman primates. | Cox LA et al. | — | 2025 | → |
| Local genetic adaptation to habitat in wild chimpanzees. | Ostridge HJ et al. | — | 2025 | → |
| Local patterns of genetic sharing between neuropsychiatric and insulin resistance-related conditions. | Fanelli G et al. | — | 2025 | → |
| Long-read sequencing reveals novel isoform-specific eQTLs and regulatory mechanisms of isoform expression in human B cells. | Nagura Y et al. | — | 2025 | → |
| Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brain. | De Paoli-Iseppi R et al. | — | 2025 | → |
| Long-read transcriptomics of a diverse human cohort reveals ancestry bias in gene annotation. | Clavell-Revelles P et al. | — | 2025 | → |
| <i>FST</i> Polymorphisms Associate with Musculoskeletal Traits and Modulate Exercise Response Differentially by Sex and Modality in Northern Han Chinese Adults. | Cao W et al. | — | 2025 | → |
| MAAT: a new nonparametric Bayesian framework for incorporating multiple functional annotations in transcriptome-wide association studies. | Wang H et al. | — | 2025 | → |
| Machine learning-guided deconvolution of plasma protein levels. | Pietzner M et al. | — | 2025 | → |
| Mammalian conservation of endogenous G-quadruplex reveals their associations with complex traits. | Zhang ZH et al. | — | 2025 | → |
| Marine Bioactive Components and Chronic Neuroinflammation: Focus on Neurodegenerative Disease. | Favari E et al. | — | 2025 | → |
| Measurement of Disease Comorbidity Using Semantic Profiling of Disease Genes. | Cho SB | — | 2025 | → |
| Merging metabolomics and genomics provides a catalog of genetic factors that influence molecular phenotypes in pigs linking relevant metabolic pathways. | Bovo S et al. | — | 2025 | → |
| Metformin reduces the risk of frailty: evidence from a Mendelian randomization study. | Chen T et al. | — | 2025 | → |
| miRTarBase 2025: updates to the collection of experimentally validated microRNA-target interactions. | Cui S et al. | — | 2025 | → |
| ML-MAGES enables multivariate genetic association analyses with genes and effect size shrinkage. | Liu X et al. | — | 2025 | → |
| MRdb: a comprehensive database of univariate and multivariate Mendelian randomization with large-scale GWAS summary data. | Liu Q et al. | — | 2025 | → |
| MR-link-2: pleiotropy robust cis Mendelian randomization validated in three independent reference datasets of causality. | van der Graaf A et al. | — | 2025 | → |
| Multi-ancestry genome-wide association analyses of polycystic ovary syndrome. | Zhao H et al. | — | 2025 | → |
| Multi-omic quantitative trait loci link tandem repeat size variation to gene regulation in human brain. | Cui Y et al. | — | 2025 | → |
| Multi-omics analysis indicates an association between TAPBP and prostate cancer. | Wang X et al. | — | 2025 | → |
| Multi-omics analysis in primary T cells elucidates mechanisms behind disease-associated genetic loci. | Shi C et al. | — | 2025 | → |
| Multi-omics analysis unraveling stemness features associated with oncogenic dedifferentiation in 12 cancers. | Cheng J et al. | — | 2025 | → |
| Multiomic single-cell profiling identifies critical regulators of postnatal brain. | Clarence T et al. | — | 2025 | → |
| Multiomics reveal key inflammatory drivers of severe obesity: IL4R, LILRA5, and OSM. | Chen HH et al. | — | 2025 | → |
| Multi-omics tests identify novel shared genetic mechanisms of primary biliary cholestasis and sarcopenia. | Wang Z et al. | — | 2025 | → |
| Multitrait Genetic Analysis Identifies Novel Pleiotropic Loci for Depression and Schizophrenia in East Asians. | Song Y et al. | — | 2025 | → |
| Multi-trait GWAS identifies pleiotropic loci associated with colorectal cancer in East Asian populations. | Chen X et al. | — | 2025 | → |
| MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics. | Boquet-Pujadas A et al. | — | 2025 | → |
| Myokines as potential mediators of changes in glucose homeostasis and muscle mass after bariatric surgery. | Orioli L et al. | — | 2025 | → |
| Natural selection and adaptive traits in the Maniq, a nomadic hunter-gatherer society from Mainland Southeast Asia. | Herzog T et al. | — | 2025 | → |
| Non-coding variation in dementias: mechanisms, insights, and challenges. | Rogers BB et al. | — | 2025 | → |
| Obesity genetic association prospective cohort utilizing single center real-world evidence data. | Bağci Ö et al. | — | 2025 | → |
| pandasPGS: a Python package for easy retrieval of Polygenic Score Catalog data. | Zhang Z et al. | — | 2025 | → |
| Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects. | Karczewski KJ et al. | — | 2025 | → |
| PARK7 is a Key Regulator of Oxidative Stress - Related Breast Cancer Risk: A Multi-Omics Study. | Wang T et al. | — | 2025 | → |
| Peroxisome Dysfunction and Steatotic Liver Disease. | Vinoy N et al. | — | 2025 | → |
| Perspective on recent developments and challenges in regulatory and systems genomics. | Zeitlinger J et al. | — | 2025 | → |
| PGSFusion streamlines polygenic score construction and epidemiological applications in biobank-scale cohorts. | Yang S et al. | — | 2025 | → |
| Physical activity, sedentary behavior, and metabolic syndrome in adults with arthritis: cross-sectional and Mendelian randomization analysis. | Gong D et al. | — | 2025 | → |
| Plasma proteomic characterization of motoric cognitive risk and mild cognitive impairment. | Gomez GT et al. | — | 2025 | → |
| Plasma proteomic profiles for early detection and risk stratification of non-small cell lung carcinoma: A prospective cohort study with 52,913 participants. | Zhao R et al. | — | 2025 | → |
| PlateletBase: A Comprehensive Knowledgebase for Platelet Research and Disease Insights. | Luo H et al. | — | 2025 | → |
| Polygenic overlap with granulocyte counts identifies novel loci for clozapine metabolism and clozapine-induced agranulocytosis. | Koch E et al. | — | 2025 | → |
| Positive Selection in Aggression-Linked Genes and Their Protein Interaction Networks. | Awadi A et al. | — | 2025 | → |
| Precision medicine for obesity: current evidence and insights for personalization of obesity pharmacotherapy. | Anazco D et al. | — | 2025 | → |
| Predicting genome-wide tissue-specific enhancers via combinatorial transcription factor genomic occupancy analysis. | Shireen H et al. | — | 2025 | → |
| Predicting Lung Cancer in Korean Never-Smokers With Polygenic Risk Scores. | Kim J et al. | — | 2025 | → |
| Primary Care Providers' Experiences With an Active Elective Genetic Testing Program. | Platt DM et al. | — | 2025 | → |
| Proteome-wide association studies using summary pQTL data of brain, CSF, and plasma identify 30 risk genes of Alzheimer's disease dementia. | Hu T et al. | — | 2025 | → |
| PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis. | Ogloblinsky MC et al. | — | 2025 | → |
| Regulatory element map of sheep reproductive tissues: functional annotation of tissue-specific strong active enhancers. | Meng Z et al. | — | 2025 | → |
| Regulatory roles of three-dimensional structures of chromatin domains. | Li KY et al. | — | 2025 | → |
| Relationship between retinol metabolism and hepatocellular carcinoma: a comprehensive analysis of Mendelian randomization, prognostic characteristic and experiment. | Chen F et al. | — | 2025 | → |
| Revolutionising Neurological Therapeutics: Investigating Drug Repurposing Strategies. | Attri M et al. | — | 2025 | → |
| sc2GWAS: a comprehensive platform linking single cell and GWAS traits of human. | Yin M et al. | — | 2025 | → |
| SC-VAR: a computational tool for interpreting polygenic disease risks using single-cell epigenomic data. | Zhao G et al. | — | 2025 | → |
| Semiparametric efficient estimation of small genetic effects in large-scale population cohorts. | Labayle O et al. | — | 2025 | → |
| Sequence-based chromatin activity modeling and regulatory impact prediction of genetic variants in farmed animals using deep learning. | Nguyen DT et al. | — | 2025 | → |
| Sex differences in the association of planetary health diet, genetic risk, with overall cancer incidence: a prospective study from UK Biobank. | Han Y et al. | — | 2025 | → |
| Sex-Specific Genetic Determinants of Right Ventricular Structure and Function. | Harbaum L et al. | — | 2025 | → |
| Shared genetic architecture between leukocyte telomere length and Alzheimer's disease. | Cao Z et al. | — | 2025 | → |
| Shared genetic loci connect cardiovascular disease with blood pressure and lipid traits in East Asian populations. | Zhong P et al. | — | 2025 | → |
| Shared requirement for MYC upstream super-enhancer region in tissue regeneration and cancer. | Sur I et al. | — | 2025 | → |
| Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation. | Huang Y et al. | — | 2025 | → |
| Signatures of selection detected from whole-genome sequencing indicate that the small body size in dwarf rabbit breeds is caused by polygenic effects with a few major loci. | Bovo S et al. | — | 2025 | → |
| Sparse haplotype-based fine-scale local ancestry inference at scale reveals recent selection on immune responses. | Yang Y et al. | — | 2025 | → |
| Splicing QTL mapping in stimulated macrophages associates low-usage splice junctions with immune-mediated disease risk. | El Garwany O et al. | — | 2025 | → |
| SUMMER: A Practical Tool for Identifying Factors and Biomarkers Associated with Pan-cancer Survival. | Xin J et al. | — | 2025 | → |
| Super-silencer perturbation by EZH2 and REST inhibition leads to large loss of chromatin interactions and reduction in cancer growth. | Zhang Y et al. | — | 2025 | → |
| Super-silencers are crucial for development and carcinogenesis in B cells. | Huang D et al. | — | 2025 | → |
| Systematic Identification of Mitochondrial Signatures in Alzheimer's Disease and Inflammatory Bowel Disease. | Wang F et al. | — | 2025 | → |
| The 9p21.3 Coronary Artery Disease Risk Locus Drives Vascular Smooth Muscle Cells to an Osteochondrogenic State. | Salido E et al. | — | 2025 | → |
| The Causal Relationship of Multiple Sclerosis on Serum Uric Acid Levels: A Mendelian Randomization Study. | Kang H et al. | — | 2025 | → |
| The Causal Relationships Between Inflammatory Proteins, Brain Structure, and Psychiatric Disorders: A Two-Step Mendelian Randomization Analysis. | Zhao L et al. | — | 2025 | → |
| The combinatorial binding syntax of transcription factors in forebrain-specific enhancers. | Batool F et al. | — | 2025 | → |
| The emergence of genetic variants linked to brain and cognitive traits in human evolution. | Libedinsky I et al. | — | 2025 | → |
| The health impacts and genetic architecture of food liking in cardio-metabolic diseases. | Jiang W et al. | — | 2025 | → |
| The inner nuclear membrane protein LEMD3 organizes the 3D chromatin architecture to maintain vascular smooth muscle cell identity. | Li W et al. | — | 2025 | → |
| The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity. | Cerezo M et al. | — | 2025 | → |
| The primate Major Histocompatibility Complex as a case study of gene family evolution. | Fortier AL et al. | — | 2025 | → |
| Therapeutic target prediction for orphan diseases integrating genome-wide and transcriptome-wide association studies. | Namba S et al. | — | 2025 | → |
| The relationship between vitamin D levels and depression: a genetically informed study. | Lyu H et al. | — | 2025 | → |
| The role of genome-wide DNA methylation and polymorphisms in periodontitis etiology: A narrative review. | Jovanova E et al. | — | 2025 | → |
| The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross-Sectional Studies of Schizophrenia and the General UK Population. | Smart SE et al. | — | 2025 | → |
| Thyroid Dysfunction and Oral Lichen Planus: Evidence From Two-Sample Mendelian Randomization Analysis. | Xie P et al. | — | 2025 | → |
| Tracing the evolutionary history of the CCR5delta32 deletion via ancient and modern genomes. | Ravn K et al. | — | 2025 | → |
| Transcriptional enhancers in human neuronal differentiation provide clues to neuronal disorders. | Yoshihara M et al. | — | 2025 | → |
| Transcriptomic heterogeneity of non-beta islet cells is associated with type 2 diabetes development in mouse models. | Gottmann P et al. | — | 2025 | → |
| Trans-omics analyses identify the biochemical network of LPCAT1 associated with coronary artery disease. | Hsu PW et al. | — | 2025 | → |
| Uncovering convergence and divergence between autism and schizophrenia using genomic tools and patients' neurons. | Romanovsky E et al. | — | 2025 | → |
| Uncovering pleiotropic loci in allergic rhinitis and leukocyte traits through multi-trait GWAS. | Yang L et al. | — | 2025 | → |
| Unraveling an enhancer-silencer regulatory element showing epistatic interaction with a variant that escaped genome-wide association studies. | Adjemout M et al. | — | 2025 | → |
| Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis. | Alghubayshi A et al. | — | 2025 | → |
| Unraveling the Genetic Architecture of Obesity: A Path to Personalized Medicine. | Kunnathodi F et al. | — | 2025 | → |
| Unraveling the genetic blueprint of doxorubicin-induced cardiotoxicity through systems genetics approaches. | Orgil BO et al. | — | 2025 | → |
| Unraveling the Role of PTGIR in Atrial Fibrillation: Insights From Single-Cell Sequencing and Mendelian Randomization. | Lin Z et al. | — | 2025 | → |
| Unravelling the genetic architecture of cerebral small vessel disease in the context of stroke. | Chakkarai S et al. | — | 2025 | → |
| Unveiling Novel Traits Associated with Ulcerative Colitis via Phenome-Wide Associations Enhanced by Polygenic Risk Statistics. | Wu Y et al. | — | 2025 | → |
| Utilizing sc-linker to integrate single-cell RNA sequencing and human genetics to identify cell types and driver genes associated with non-small cell lung cancer. | Zhou Y et al. | — | 2025 | → |
| Whole-genome resequencing uncovers population structure and candidate molecular markers for litter size in hetian sheep. | Liu B et al. | — | 2025 | → |
| A 30-nation investigation of lay heritability beliefs. | Ferris LJ et al. | — | 2024 | → |
| A Bayesian fine-mapping model using a continuous global-local shrinkage prior with applications in prostate cancer analysis. | Li X et al. | — | 2024 | → |
| A brief guide to analyzing expression quantitative trait loci. | Ko BS et al. | — | 2024 | → |
| Accounting for isoform expression increases power to identify genetic regulation of gene expression. | LaPierre N et al. | — | 2024 | → |
| Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework. | He D et al. | — | 2024 | → |
| ACE Gene Mutations (rs577350502) in Early-Onset and Recurrent Myocardial Infarction: A Case Report and Review. | Deng X et al. | — | 2024 | → |
| A comprehensive genetic map of cytokine responses in Lyme borreliosis. | Botey-Bataller J 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 | → |
| A distal enhancer of GATA3 regulates Th2 differentiation and allergic inflammation. | Kumagai T et al. | — | 2024 | → |
| A distinct class of pan-cancer susceptibility genes revealed by an alternative polyadenylation transcriptome-wide association study. | Chen H et al. | — | 2024 | → |
| Admixture Mapping of Chronic Kidney Disease and Risk Factors in Hispanic/Latino Individuals From Central America Country of Origin. | Horimoto ARVR et al. | — | 2024 | → |
| A genetically informed study reveals modifiable pathways in skin cancer. | Qian H et al. | — | 2024 | → |
| A Genetic Analysis of Current Medication Use in the UK Biobank. | Rohde PD | — | 2024 | → |
| A genome-wide association analysis reveals new pathogenic pathways in gout. | Major TJ et al. | — | 2024 | → |
| A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease. | Riesmeijer SA et al. | — | 2024 | → |
| A genome-wide association meta-analysis of all-cause and vascular dementia. | Mega Vascular Cognitive Impairment and Dementia (MEGAVCID) consortium | — | 2024 | → |
| A genome-wide association study identifies genetic determinants of hemoglobin glycation index with implications across sex and ethnicity. | House JS et al. | — | 2024 | → |
| A genome-wide association study meta-analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci. | De Almeida SD et al. | — | 2024 | → |
| A genome-wide association study of 24-hour urinary excretion of endocrine disrupting chemicals. | Lu X et al. | — | 2024 | → |
| A genome-wide association study of neonatal metabolites. | He Q et al. | — | 2024 | → |
| A genome-wide association study of neutrophil count in individuals associated to an African continental ancestry group facilitates studies of malaria pathogenesis. | Constantinescu AE et al. | — | 2024 | → |
| A genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans. | Moksnes MR et al. | — | 2024 | → |
| A landscape of gene expression regulation for synovium in arthritis. | Jiang F et al. | — | 2024 | → |
| Analysis of blood methylation quantitative trait loci in East Asians reveals ancestry-specific impacts on complex traits. | Peng Q et al. | — | 2024 | → |
| An ensemble penalized regression method for multi-ancestry polygenic risk prediction. | Zhang J et al. | — | 2024 | → |
| Animal and plant protein intake during infancy and childhood DNA methylation: a meta-analysis in the NutriPROGRAM consortium. | El Sharkawy M et al. | — | 2024 | → |
| An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn's disease with defective antimicrobial activity. | Aschenbrenner D et al. | — | 2024 | → |
| A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals. | Jennings MV et al. | — | 2024 | → |
| A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank. | Manigbas CA et al. | — | 2024 | → |
| A Polygenic Risk Analysis for Identifying Ulcerative Colitis Patients with European Ancestry. | Liu L et al. | — | 2024 | → |
| A polygenic score associated with fracture risk in breast cancer patients treated with aromatase inhibitors. | Hook C et al. | — | 2024 | → |
| A polygenic score method boosted by non-additive models. | Ohta R et al. | — | 2024 | → |
| A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats. | de Jong TV et al. | — | 2024 | → |
| Assessing Privacy Vulnerabilities in Genetic Data Sets: Scoping Review. | Thomas M et al. | — | 2024 | → |
| Assessment of bidirectional relationships between autoimmune diseases and primary ovarian insufficiency: insights from a bidirectional two-sample Mendelian randomization analysis. | Luo R et al. | — | 2024 | → |
| Assessment of causal associations between obesity and peripheral artery disease: a bidirectional Mendelian randomization study. | Huang XW et al. | — | 2024 | → |
| Association of blood lipid profiles and asthma: A bidirectional two-sample Mendelian randomization study. | Liu YS et al. | — | 2024 | → |
| Associations between antagonistic SNPs for neuropsychiatric disorders and human brain structure. | Federmann LM et al. | — | 2024 | → |
| Associations of combined phenotypic aging and genetic risk with incident cancer: A prospective cohort study. | Bian L et al. | — | 2024 | → |
| Associations of measured and genetically predicted leukocyte telomere length with vascular phenotypes: a population-based study. | Liu D et al. | — | 2024 | → |
| Associations of polygenic risk scores with risks of stroke and its subtypes in Chinese. | Yang S et al. | — | 2024 | → |
| Asthma-Genomic Advances Toward Risk Prediction. | Herrera-Luis E et al. | — | 2024 | → |
| Autoimmunity: the neoantigen hypothesis. | Mustelin T et al. | — | 2024 | → |
| Bangladeshi Atherosclerosis Biobank and Hub: The BANGABANDHU Study. | Ranjan R et al. | — | 2024 | → |
| Bayesian colocalization of GWAS and eQTL signals reveals cell type-specific genes and regulatory variants for susceptibility to subtypes of ischemic stroke. | Seo Y et al. | — | 2024 | → |
| BERT-TFBS: a novel BERT-based model for predicting transcription factor binding sites by transfer learning. | Wang K et al. | — | 2024 | → |
| Better together against genetic heterogeneity: A sex-combined joint main and interaction analysis of 290 quantitative traits in the UK Biobank. | Lin B et al. | — | 2024 | → |
| Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References. | Taylor DJ et al. | — | 2024 | → |
| Bidirectional two-sample Mendelian randomization analyses support causal relationships between structural and diffusion imaging-derived phenotypes and the risk of major neurodegenerative diseases. | Wang Z et al. | — | 2024 | → |
| Biological basis of extensive pleiotropy between blood traits and cancer risk. | Pardo-Cea MA et al. | — | 2024 | → |
| Blood metabolites, neurocognition and psychiatric disorders: a Mendelian randomization analysis to investigate causal pathways. | Guo J et al. | — | 2024 | → |
| Brain aging patterns in a large and diverse cohort of 49,482 individuals. | Yang Z et al. | — | 2024 | → |
| Branched-chain amino acids and type 2 diabetes: a bidirectional Mendelian randomization analysis. | Mosley JD et al. | — | 2024 | → |
| Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine. | Wiley LK et al. | — | 2024 | → |
| Candidate Genetic and Molecular Drivers of Dysregulated Adaptive Immune Responses After Traumatic Brain Injury. | Duchniewicz M et al. | — | 2024 | → |
| Causal association between epigenetic age acceleration and two pulmonary vascular diseases: pulmonary arterial hypertension and pulmonary embolism-a bidirectional Mendelian study. | Tong J et al. | — | 2024 | → |
| Causal Associations Between Lifestyle Habits and Risk of Benign Prostatic Hyperplasia: A Two-Sample Mendelian Randomization Study. | Jia F et al. | — | 2024 | → |
| Causal relationship between immune cells and epilepsy mediated by metabolites analyzed through Mendelian randomization. | Chen J et al. | — | 2024 | → |
| Causal relationships between plasma lipidome and diabetic neuropathy: a Mendelian randomization study. | Wang Z et al. | — | 2024 | → |
| Causal relationships between rheumatoid arthritis and neurodegenerative diseases: a two-sample univariable and multivariable Mendelian randomization study. | Chen X et al. | — | 2024 | → |
| Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults. | Pozarickij A et al. | — | 2024 | → |
| Cell-type-specific and disease-associated expression quantitative trait loci in the human lung. | Natri HM et al. | — | 2024 | → |
| Characterizing Common and Rare Variations in Nontraditional Glycemic Biomarkers Using Multivariate Approaches on Multiancestry ARIC Study. | Ray D et al. | — | 2024 | → |
| ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han. | Wu Z et al. | — | 2024 | → |
| Circulating metabolites and coronary heart disease: a bidirectional Mendelian randomization. | Chen H et al. | — | 2024 | → |
| Clinical associations with a polygenic predisposition to benign lower white blood cell counts. | Mosley JD et al. | — | 2024 | → |
| Cluster effect for SNP-SNP interaction pairs for predicting complex traits. | Lin HY et al. | — | 2024 | → |
| Coexistence of temporal lobe epilepsy and idiopathic generalized epilepsy. | Asadi-Pooya AA et al. | — | 2024 | → |
| Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes. | Urzúa-Traslaviña CG et al. | — | 2024 | → |
| COLOCdb: a comprehensive resource for multi-model colocalization of complex traits. | Pan S et al. | — | 2024 | → |
| Common variation in a long non-coding RNA gene modulates variation of circulating TGF-β2 levels in metastatic colorectal cancer patients (Alliance). | Quintanilha JCF et al. | — | 2024 | → |
| Comparative single-cell analyses identify shared and divergent features of human and mouse kidney development. | Kim S et al. | — | 2024 | → |
| Comparison among different preclinical models derived from the same patient with a non-functional pancreatic neuroendocrine tumor. | Wang Y et al. | — | 2024 | → |
| Comprehensive Clinical and Genetic Analyses of Circulating Bile Acids and Their Associations With Diabetes and Its Indices. | Choucair I et al. | — | 2024 | → |
| Comprehensive multi-tissue epigenome atlas in sheep: A resource for complex traits, domestication, and breeding. | Zhang D et al. | — | 2024 | → |
| Conditional transcriptome-wide association study for fine-mapping candidate causal genes. | Liu L et al. | — | 2024 | → |
| COVID-19 Is a Coronary Artery Disease Risk Equivalent and Exhibits a Genetic Interaction With ABO Blood Type. | Hilser JR et al. | — | 2024 | → |
| CropGS-Hub: a comprehensive database of genotype and phenotype resources for genomic prediction in major crops. | Chen J et al. | — | 2024 | → |
| Deciphering the causal association and co-disease mechanisms between psoriasis and breast cancer. | Li X et al. | — | 2024 | → |
| Decoding frontotemporal and cell-type-specific vulnerabilities to neuropsychiatric disorders and psychoactive drugs. | Ji J et al. | — | 2024 | → |
| Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases. | Peña-Martínez EG et al. | — | 2024 | → |
| Deep learning approaches for non-coding genetic variant effect prediction: current progress and future prospects. | Wang X et al. | — | 2024 | → |
| dHICA: a deep transformer-based model enables accurate histone imputation from chromatin accessibility. | Wen W et al. | — | 2024 | → |
| Diabetes mellitus-Progress and opportunities in the evolving epidemic. | Abel ED et al. | — | 2024 | → |
| Discovering genetic mechanisms underlying the co-occurrence of Parkinson's disease and non-motor traits. | Gokuladhas S et al. | — | 2024 | → |
| Discovery and validation of genes driving drug-intake and related behavioral traits in mice. | Roy TA et al. | — | 2024 | → |
| Discovery of new myositis genetic associations through leveraging other immune-mediated diseases. | Reales G et al. | — | 2024 | → |
| Disease coverage of human genome-wide association studies and pharmaceutical research and development. | Gordillo-Marañón M et al. | — | 2024 | → |
| Disease-specific prioritization of non-coding GWAS variants based on chromatin accessibility. | Liang Q et al. | — | 2024 | → |
| Disentangling differing relationships between internalizing disorders and alcohol use. | Brasher MS et al. | — | 2024 | → |
| Disentangling genetic effects on transcriptional and post-transcriptional gene regulation through integrating exon and intron expression QTLs. | Brümmer A et al. | — | 2024 | → |
| Disparities in Genetic Testing for Neurologic Disorders. | Baldwin A et al. | — | 2024 | → |
| Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology. | Karadag N et al. | — | 2024 | → |
| Does Effective Population Size Govern Evolutionary Differences in Telomere Length? | Brown LM et al. | — | 2024 | → |
| DRCTdb: disease-related cell type analysis to decode cell type effect and underlying regulatory mechanisms. | Kong Y et al. | — | 2024 | → |
| Dynamic enhancer landscapes in human craniofacial development. | Rajderkar SS et al. | — | 2024 | → |
| Early detection and diagnosis of cancer with interpretable machine learning to uncover cancer-specific DNA methylation patterns. | Newsham I et al. | — | 2024 | → |
| Effects of endocrine disrupting chemicals and their interactions with genetic risk scores on cardiometabolic traits. | Lu X et al. | — | 2024 | → |
| Efficacy of federated learning on genomic data: a study on the UK Biobank and the 1000 Genomes Project. | Kolobkov D et al. | — | 2024 | → |
| Employing Informatics Strategies in Alzheimer's Disease Research: A Review from Genetics, Multiomics, and Biomarkers to Clinical Outcomes. | Bao J et al. | — | 2024 | → |
| Endophenotype 2.0: updated definitions and criteria for endophenotypes of psychiatric disorders, incorporating new technologies and findings. | Liu C et al. | — | 2024 | → |
| Enhanced resolution profiling in twins reveals differential methylation signatures of type 2 diabetes with links to its complications. | Christiansen C et al. | — | 2024 | → |
| Enhancers regulate genes linked to severe and mild childhood asthma. | Akhter T et al. | — | 2024 | → |
| Environmental and genetic risk factors associated with total knee arthroplasty following cruciate ligament surgery. | Inclan PM et al. | — | 2024 | → |
| Epigenetic profiling reveals key genes and cis-regulatory networks specific to human parathyroids. | Jung YL et al. | — | 2024 | → |
| EVPsort: An Atlas of Small ncRNA Profiling and Sorting in Extracellular Vesicles and Particles. | Chen HC et al. | — | 2024 | → |
| Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. | Copeland I et al. | — | 2024 | → |
| Exploring Genetic Associations of 3 Types of Risk Factors With Ischemic Stroke: An Integrated Bioinformatics Study. | Liu Y et al. | — | 2024 | → |
| Exploring the causal link between serum amino acids and Parkinson's disease: a Mendelian randomization approach. | Cheng L et al. | — | 2024 | → |
| Expression quantitative trait loci analysis in rheumatoid arthritis identifies tissue specific variants associated with severity and outcome. | Goldmann K et al. | — | 2024 | → |
| Expression quantitative trait locus mapping of extracellular microRNAs in human plasma. | Huan T et al. | — | 2024 | → |
| Eye-brain connections revealed by multimodal retinal and brain imaging genetics. | Zhao B et al. | — | 2024 | → |
| FAM81A is a postsynaptic protein that regulates the condensation of postsynaptic proteins via liquid-liquid phase separation. | Kaizuka T et al. | — | 2024 | → |
| Fine Particulate Matter Exposure, Genetic Susceptibility, and the Risk of Incident Stroke: A Prospective Cohort Study. | Huang K et al. | — | 2024 | → |
| From genetic associations to genes: methods, applications, and challenges. | Qi T et al. | — | 2024 | → |
| Fully defined NGN2 neuron protocol reveals diverse signatures of neuronal maturation. | Shan X et al. | — | 2024 | → |
| Functional and dynamic profiling of transcript isoforms reveals essential roles of alternative splicing in interferon response. | Ueda MT et al. | — | 2024 | → |
| Functional characterization of the <i>SDR42E1</i> reveals its role in vitamin D biosynthesis. | Hendi NN et al. | — | 2024 | → |
| Gene-environment interactions in human health. | Herrera-Luis E et al. | — | 2024 | → |
| Generation of Human Isogenic Induced Pluripotent Stem Cell Lines with CRISPR Prime Editing. | Bonnycastle LL et al. | — | 2024 | → |
| Gene-SGAN: discovering disease subtypes with imaging and genetic signatures via multi-view weakly-supervised deep clustering. | Yang Z et al. | — | 2024 | → |
| Genetically predicted blood metabolites mediate the association between circulating immune cells and pancreatic cancer: A Mendelian randomization study. | Zhao G et al. | — | 2024 | → |
| Genetically predicted circulating concentrations of micronutrients and risk of hypertensive disorders of pregnancy: a Mendelian randomization study. | Huang T 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 and Clinical Correlates of AI-Based Brain Aging Patterns in Cognitively Unimpaired Individuals. | Skampardoni I et al. | — | 2024 | → |
| Genetic and clinical correlates of two neuroanatomical AI dimensions in the Alzheimer's disease continuum. | Wen J et al. | — | 2024 | → |
| Genetic Architecture and Clinical Outcomes of Combined Lipid Disturbances. | Gilliland T et al. | — | 2024 | → |
| Genetic architecture of the structural connectome. | Wainberg M et al. | — | 2024 | → |
| Genetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-Analysis. | Liang YJ et al. | — | 2024 | → |
| Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia. | Yang Z et al. | — | 2024 | → |
| Genetic basis of right and left ventricular heart shape. | Burns R et al. | — | 2024 | → |
| Genetic determinants of complement activation in the general population. | Noce D et al. | — | 2024 | → |
| Genetic determinants of IgG antibody response to COVID-19 vaccination. | Bian S et al. | — | 2024 | → |
| Genetic determinants of obesity in Korean populations: exploring genome-wide associations and polygenic risk scores. | Jo J et al. | — | 2024 | → |
| Genetic Evidence for a Causal Relationship Between Innate Leukocytes and the Risk of Digestive System Cancers in East Asians and Europeans. | Zhu JH et al. | — | 2024 | → |
| Genetic evidence for serum amyloid P component as a drug target in neurodegenerative disorders. | Schmidt AF et al. | — | 2024 | → |
| Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications. | Qi M et al. | — | 2024 | → |
| Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles. | Chen J et al. | — | 2024 | → |
| Genetic mapping across autoimmune diseases reveals shared associations and mechanisms. | Lincoln MR et al. | — | 2024 | → |
| Genetic overlap between Alzheimer's disease and immune-mediated diseases: an atlas of shared genetic determinants and biological convergence. | Enduru N et al. | — | 2024 | → |
| Genetics of Exercise and Diet-Induced Fat Loss Efficiency: A Systematic Review. | Bojarczuk A et al. | — | 2024 | → |
| Genetic Variants of Adrenoceptors. | Ahles A et al. | — | 2024 | → |
| Genetic variation is a key determinant of chromatin accessibility and drives differences in the regulatory landscape of C57BL/6J and 129S1/SvImJ mice. | Mononen J et al. | — | 2024 | → |
| Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism. | Solé-Navais P et al. | — | 2024 | → |
| Genome-wide analyses reveal shared genetic architecture and novel risk loci between opioid use disorder and general cognitive ability. | Holen B et al. | — | 2024 | → |
| Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. | Keaton JM et al. | — | 2024 | → |
| Genome-wide association and Mendelian randomisation analysis among 30,699 Chinese pregnant women identifies novel genetic and molecular risk factors for gestational diabetes and glycaemic traits. | Zhen J et al. | — | 2024 | → |
| Genome-wide association neural networks identify genes linked to family history of Alzheimer's disease. | Ghose U et al. | — | 2024 | → |
| Genome-wide association study and polygenic score assessment of insulin resistance. | Aliyu U et al. | — | 2024 | → |
| Genome-wide association study for growth traits with 1066 individuals in largemouth bass (<i>Micropterus salmoides</i>). | Han W et al. | — | 2024 | → |
| Genome-wide association study of maternal plasma metabolites during pregnancy. | Liu S et al. | — | 2024 | → |
| Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience. | Jurgens SJ et al. | — | 2024 | → |
| Genome-wide enhancer RNA profiling adds molecular links between genetic variation and human cancers. | Cai YM et al. | — | 2024 | → |
| Genome-Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125 393 Participants. | Young WJ et al. | — | 2024 | → |
| Genome-wide large-scale multi-trait analysis characterizes global patterns of pleiotropy and unique trait-specific variants. | Qi G et al. | — | 2024 | → |
| Genome-wide Studies Reveal Genetic Risk Factors for Hepatic Fat Content. | Li Y et al. | — | 2024 | → |
| Genomic analyses of withers height and linear conformation traits in German Warmblood horses using imputed sequence-level genotypes. | Reich P et al. | — | 2024 | → |
| Genomic analysis of venous thrombosis in children with acute lymphoblastic leukemia from diverse ancestries. | Zheng Y et al. | — | 2024 | → |
| Genomic data in the All of Us Research Program. | All of Us Research Program Genomics Investigators | — | 2024 | → |
| Genomic insights into genes expressed specifically during infancy highlight their dominant influence on the neuronal system. | Wang W et al. | — | 2024 | → |
| Germline determinants of aberrant signaling pathways in cancer. | Dalfovo D et al. | — | 2024 | → |
| Germline genetic regulation of the colorectal tumor immune microenvironment. | Schmit SL et al. | — | 2024 | → |
| Global genomic profile of hippocampal endothelial cells by single-nuclei RNA sequencing in female diabetic mice is associated with cognitive dysfunction. | Milenkovic D et al. | — | 2024 | → |
| Gut microbiota influence on lung cancer risk through blood metabolite mediation: from a comprehensive Mendelian randomization analysis and genetic analysis. | Du Y et al. | — | 2024 | → |
| Haplotype-resolved 3D chromatin architecture of the hybrid pig. | Lin Y et al. | — | 2024 | → |
| Heritability and genetic contribution analysis of structural-functional coupling in human brain. | Dai W et al. | — | 2024 | → |
| Herpes Simplex Virus 1 Infection of Human Brain Organoids and Pancreatic Stem Cell-Islets Drives Organoid-Specific Transcripts Associated with Alzheimer's Disease and Autoimmune Diseases. | Sundstrom J et al. | — | 2024 | → |
| Heterogeneous enhancer states orchestrate β cell responses to metabolic stress. | Wang L et al. | — | 2024 | → |
| Heterogeneous genetic architectures of prostate cancer susceptibility in sub-Saharan Africa. | Janivara R et al. | — | 2024 | → |
| Hierarchical joint analysis of marginal summary statistics-Part I: Multipopulation fine mapping and credible set construction. | Shen J et al. | — | 2024 | → |
| Human cortical neurogenesis is altered via glucocorticoid-mediated regulation of ZBTB16 expression. | Krontira AC et al. | — | 2024 | → |
| Human Genetics and Genomics for Drug Target Identification and Prioritization: Open Targets' Perspective. | McDonagh EM et al. | — | 2024 | → |
| Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes. | Zheng T et al. | — | 2024 | → |
| Human pangenome analysis of sequences missing from the reference genome reveals their widespread evolutionary, phenotypic, and functional roles. | Wu Z et al. | — | 2024 | → |
| Identification and validation of supervariants reveal novel loci associated with human white matter microstructure. | Wang S et al. | — | 2024 | → |
| Identification of diagnostic biomarkers and immune cell infiltration in coronary artery disease by machine learning, nomogram, and molecular docking. | Jiang X et al. | — | 2024 | → |
| Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts. | Shibata M et al. | — | 2024 | → |
| Identification of novel nutrient sensitive human yolk sac functions required for embryogenesis. | White M et al. | — | 2024 | → |
| Identification of Pancreatic Cancer Germline Risk Variants With Effects That Are Modified by Smoking. | Zhu H et al. | — | 2024 | → |
| Identification of population-informative markers from high-density genotyping data through combined feature selection and machine learning algorithms: Application to European autochthonous and cosmopolitan pig breeds. | Schiavo G et al. | — | 2024 | → |
| Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1. | Pacot L et al. | — | 2024 | → |
| Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks. | Bakker OB et al. | — | 2024 | → |
| Identification of the Molecular Components of Enhancer-Mediated Gene Expression Variation in Multiple Tissues Regulating Blood Pressure. | Yaacov O et al. | — | 2024 | → |
| Identifying genetic variants associated with chromatin looping and genome function. | Bhattacharyya S et al. | — | 2024 | → |
| IL27 and IL1RN are causally associated with acute pancreatitis: a Mendelian randomization study. | Jing Q et al. | — | 2024 | → |
| Immune cells mediate the causal relationship between uveitis and colorectal cancer via Mendelian randomization analysis. | Zhou L et al. | — | 2024 | → |
| Immunocyte phenotype and breast cancer risk: A Mendel randomization analysis. | Li B et al. | — | 2024 | → |
| Impact of putatively beneficial genomic loci on gene expression in little brown bats (<i>Myotis lucifugus</i>, Le Conte, 1831) affected by white-nose syndrome. | Kwait R et al. | — | 2024 | → |
| Impaired glycine neurotransmission causes adolescent idiopathic scoliosis. | Wang X et al. | — | 2024 | → |
| Incorporating genetic similarity of auxiliary samples into eGene identification under the transfer learning framework. | Zhang S et al. | — | 2024 | → |
| Increased regional activity of a pro-autophagy pathway in schizophrenia as a contributor to sex differences in the disease pathology. | Bjornson KJ et al. | — | 2024 | → |
| Inherited infertility: Mapping loci associated with impaired female reproduction. | Ruotsalainen S et al. | — | 2024 | → |
| Innovative target mining stratagems to navigate drug repurposing endeavours. | Saravanan KS et al. | — | 2024 | → |
| Insights into Calpain Activation and Rho-ROCK Signaling in Parkinson's Disease and Aging. | Gathings A et al. | — | 2024 | → |
| Integrated Analysis of Genomic and Genome-Wide Association Studies Identified Candidate Genes for Nutrigenetic Studies in Flavonoids and Vascular Health: Path to Precision Nutrition for (Poly)phenols. | Ruskovska T et al. | — | 2024 | → |
| Integrating leiomyoma genetics, epigenomics, and single-cell transcriptomics reveals causal genetic variants, genes, and cell types. | Buyukcelebi K et al. | — | 2024 | → |
| INTEGRATING MENDELIAN RANDOMIZATION WITH CAUSAL MEDIATION ANALYSES FOR CHARACTERIZING DIRECT AND INDIRECT EXPOSURE-TO-OUTCOME EFFECTS. | Yang F et al. | — | 2024 | → |
| Integrating multi-omics data to reveal the effect of genetic variant rs6430538 on Alzheimer's disease risk. | Qiu S et al. | — | 2024 | → |
| Integrating single cell expression quantitative trait loci summary statistics to understand complex trait risk genes. | Wang L et al. | — | 2024 | → |
| Integration of estimated regional gene expression with neuroimaging and clinical phenotypes at biobank scale. | Hoang N et al. | — | 2024 | → |
| Integration of genetic and chromatin modification data pinpoints autoimmune-specific remodeling of enhancer landscape in CD4<sup>+</sup> T cells. | Daga N et al. | — | 2024 | → |
| Integration of variant annotations using deep set networks boosts rare variant association testing. | Clarke B et al. | — | 2024 | → |
| Integrative single-cell analysis of human colorectal cancer reveals patient stratification with distinct immune evasion mechanisms. | Chu X et al. | — | 2024 | → |
| Interspecies regulatory landscapes and elements revealed by novel joint systematic integration of human and mouse blood cell epigenomes. | Xiang G et al. | — | 2024 | → |
| Investigating causal associations between pneumonia and lung cancer using a bidirectional mendelian randomization framework. | Song L et al. | — | 2024 | → |
| Investigating the shared genetic architecture between depression and subcortical volumes. | Liu M et al. | — | 2024 | → |
| Investigation of lactotransferrin messenger RNA expression levels as an anti-type 2 asthma biomarker. | Li NC et al. | — | 2024 | → |
| Investigation of missense mutation-related type 1 diabetes mellitus through integrating genomic databases and bioinformatic approach. | Pakha DN et al. | — | 2024 | → |
| Investigation of the acute pathogenesis of spondyloarthritis/HLA-B27-associated anterior uveitis based on genome-wide association analysis and single-cell transcriptomics. | Chen S et al. | — | 2024 | → |
| Investigative power of genomic informational field theory relative to genome-wide association studies for genotype-phenotype mapping. | Kyratzi P et al. | — | 2024 | → |
| Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups. | Jeon S et al. | — | 2024 | → |
| Lactobacillaceae-mediated eye-brain-gut axis regulates high myopia-related anxiety: from the perspective of predictive, preventive, and personalized medicine. | Mi Y et al. | — | 2024 | → |
| Large-scale cross-ancestry genome-wide meta-analysis of serum urate. | Cho C et al. | — | 2024 | → |
| Large-scale integrative analysis of juvenile idiopathic arthritis for new insight into its pathogenesis. | Kim D et al. | — | 2024 | → |
| Latent space arithmetic on data embeddings from healthy multi-tissue human RNA-seq decodes disease modules. | de Weerd HA et al. | — | 2024 | → |
| Leveraging large-scale multi-omics evidences to identify therapeutic targets from genome-wide association studies. | Lessard S et al. | — | 2024 | → |
| Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency. | Willis TW et al. | — | 2024 | → |
| Links between melanoma germline risk loci, driver genes and comorbidities: insight from a tissue-specific multi-omic analysis. | Pudjihartono M et al. | — | 2024 | → |
| Literature mining discerns latent disease-gene relationships. | Rai P et al. | — | 2024 | → |
| Lower Incidence of Dementia Following Cancer Diagnoses: Evidence from a Large Cohort and Mendelian Randomization Study. | Bassil DT et al. | — | 2024 | → |
| m7GHub V2.0: an updated database for decoding the N7-methylguanosine (m7G) epitranscriptome. | Wang X et al. | — | 2024 | → |
| Machine Learning of Functional Connectivity to Biotype Alcohol and Nicotine Use Disorders. | Zhu T et al. | — | 2024 | → |
| Mapping the functional impact of non-coding regulatory elements in primary T cells through single-cell CRISPR screens. | Alda-Catalinas C et al. | — | 2024 | → |
| Mechanisms and functions of lncRNAs linked to autoimmune disease risk alleles. | Tian R et al. | — | 2024 | → |
| Mechanosensitive super-enhancers regulate genes linked to atherosclerosis in endothelial cells. | Li J et al. | — | 2024 | → |
| Metabolic liability for weight gain in early adulthood. | Murthy VL et al. | — | 2024 | → |
| Metabolic Syndrome and Biotherapeutic Activity of Dairy (Cow and Buffalo) Milk Proteins and Peptides: Fast Food-Induced Obesity Perspective-A Narrative Review. | Abdisa KB et al. | — | 2024 | → |
| Metabolomic profiling identifies novel metabolites associated with cardiac dysfunction. | Culler KL et al. | — | 2024 | → |
| Meta-Research: Understudied genes are lost in a leaky pipeline between genome-wide assays and reporting of results. | Richardson R et al. | — | 2024 | → |
| MethNet: a robust approach to identify regulatory hubs and their distal targets from cancer data. | Sakellaropoulos T et al. | — | 2024 | → |
| Modification in mitochondrial function is associated with the FADS1 variant and its interaction with alpha-linolenic acid-enriched diet-An exploratory study. | Vaittinen M et al. | — | 2024 | → |
| Molecular characterization of allergic constitution based on network pharmacology and multi-omics analysis methods. | Sun P et al. | — | 2024 | → |
| Monkey multi-organ cell atlas exposed to estrogen. | Fang W et al. | — | 2024 | → |
| Multicenter integrated analysis of noncoding CRISPRi screens. | Yao D et al. | — | 2024 | → |
| Multi-omics analysis reveals the genetic aging landscape of Parkinson's disease. | Wang Z et al. | — | 2024 | → |
| Multiomics and eXplainable artificial intelligence for decision support in insulin resistance early diagnosis: A pediatric population-based longitudinal study. | Torres-Martos Á et al. | — | 2024 | → |
| Network medicine informed multiomics integration identifies drug targets and repurposable medicines for Amyotrophic Lateral Sclerosis. | Yu M et al. | — | 2024 | → |
| Network propagation for GWAS analysis: a practical guide to leveraging molecular networks for disease gene discovery. | Visonà G et al. | — | 2024 | → |
| Neurogenetic and multi-omic sources of overlap among sensation seeking, alcohol consumption, and alcohol use disorder. | Miller AP et al. | — | 2024 | → |
| NIAGADS Alzheimer's GenomicsDB: A resource for exploring Alzheimer's disease genetic and genomic knowledge. | Greenfest-Allen E 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 insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks. | Strosahl J et al. | — | 2024 | → |
| Novel subtype of obesity influencing the outcomes of sleeve gastrectomy: Familial aggregation of obesity. | Wang ZY et al. | — | 2024 | → |
| Omnibus proteome-wide association study identifies 43 risk genes for Alzheimer disease dementia. | Hu T et al. | — | 2024 | → |
| Optimal ensemble construction for multistudy prediction with applications to mortality estimation. | Loewinger G et al. | — | 2024 | → |
| Parkinson's disease and schizophrenia interactomes contain temporally distinct gene clusters underlying comorbid mechanisms and unique disease processes. | Karunakaran KB et al. | — | 2024 | → |
| Parkinson's Disease: Biomarkers for Diagnosis and Disease Progression. | Arya R et al. | — | 2024 | → |
| Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease. | Jamialahmadi O et al. | — | 2024 | → |
| Personalized medicine and nutrition in hepatology for preventing chronic liver disease in Mexico. | Panduro A et al. | — | 2024 | → |
| Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification. | Wu CW et al. | — | 2024 | → |
| PGS-Depot: a comprehensive resource for polygenic scores constructed by summary statistics based methods. | Cao C et al. | — | 2024 | → |
| Phenome-wide association network demonstrates close connection with individual disease trajectories from the HUNT study. | Hall M et al. | — | 2024 | → |
| Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records. | Nguyen TQ et al. | — | 2024 | → |
| Physical activity, sedentary behavior, and the risk of frailty and falling: A Mendelian randomization study. | Zhou Y et al. | — | 2024 | → |
| PigBiobank: a valuable resource for understanding genetic and biological mechanisms of diverse complex traits in pigs. | Zeng H et al. | — | 2024 | → |
| Plasma circulating microRNAs associated with blood-based immune markers: a population-based study. | Leonard S et al. | — | 2024 | → |
| Pleiotropic expression quantitative trait loci are enriched in enhancers and transcription factor binding sites and impact more genes. | González A et al. | — | 2024 | → |
| Polygenic Risk Associations with Clinical Characteristics and Recurrence of Dupuytren Disease. | Riesmeijer SA et al. | — | 2024 | → |
| Polygenic risk for obesity and body dissatisfaction: beyond BMI. | Jeter KM et al. | — | 2024 | → |
| Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks. | Yun JS et al. | — | 2024 | → |
| Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks. | Lee YC et al. | — | 2024 | → |
| Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors. | Gibson TM et al. | — | 2024 | → |
| Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk. | Ünal P et al. | — | 2024 | → |
| Population-specific putative causal variants shape quantitative traits. | Koyama S et al. | — | 2024 | → |
| Predicting cell population-specific gene expression from genomic sequence. | Michielsen L et al. | — | 2024 | → |
| Primary ovarian insufficiency consequence of autoimmune diseases: a bidirectional two-sample Mendelian randomization study. | Du Y et al. | — | 2024 | → |
| Promising candidate drug target genes for repurposing in cervical cancer: A bioinformatics-based approach. | Pratiwi N et al. | — | 2024 | → |
| Promoting equity in polygenic risk assessment through global collaboration. | Kullo IJ | — | 2024 | → |
| Protein-centric omics integration analysis identifies candidate plasma proteins for multiple autoimmune diseases. | Chen Y et al. | — | 2024 | → |
| Protein-protein interaction network-based integration of GWAS and functional data for blood pressure regulation analysis. | Tsare EG et al. | — | 2024 | → |
| Proxy-analysis of the genetics of cognitive decline in Parkinson's disease through polygenic scores. | Faouzi J et al. | — | 2024 | → |
| PTGES2 and RNASET2 identified as novel potential biomarkers and therapeutic targets for basal cell carcinoma: insights from proteome-wide mendelian randomization, colocalization, and MR-PheWAS analyses. | Han QJ et al. | — | 2024 | → |
| Pycallingcards: an integrated environment for visualizing, analyzing, and interpreting Calling Cards data. | Guo J et al. | — | 2024 | → |
| Quantifying negative selection in human 3' UTRs uncovers constrained targets of RNA-binding proteins. | Findlay SD et al. | — | 2024 | → |
| Rare copy number variation in autoimmune Addison's disease. | Artaza H et al. | — | 2024 | → |
| Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. | Olfson E et al. | — | 2024 | → |
| Rare-variant association study unveils the Achilles' heel for HCC. | Wang Y et al. | — | 2024 | → |
| Recent advances in the understanding and management of chronic pancreatitis pain. | Walker J et al. | — | 2024 | → |
| Relationship between MRI brain-age heterogeneity, cognition, genetics and Alzheimer's disease neuropathology. | Antoniades M et al. | — | 2024 | → |
| Remodeling of Il4-Il13-Il5 locus underlies selective gene expression. | Nagashima H et al. | — | 2024 | → |
| Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen. | Tkachenko AA et al. | — | 2024 | → |
| Scalable genetic screening for regulatory circuits using compressed Perturb-seq. | Yao D et al. | — | 2024 | → |
| scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases. | Schäfer S et al. | — | 2024 | → |
| Scientific clickbait: Examining media coverage and readability in genome-wide association research. | Morosoli JJ et al. | — | 2024 | → |
| scSNV-seq: high-throughput phenotyping of single nucleotide variants by coupled single-cell genotyping and transcriptomics. | Cooper SE et al. | — | 2024 | → |
| Sequence-Based Machine Learning Reveals 3D Genome Differences between Bonobos and Chimpanzees. | Brand CM et al. | — | 2024 | → |
| Serum proteomics reveal APOE-ε4-dependent and APOE-ε4-independent protein signatures in Alzheimer's disease. | Frick EA et al. | — | 2024 | → |
| Sex and statin-related genetic associations at the PCSK9 gene locus: results of genome-wide association meta-analysis. | Pott J et al. | — | 2024 | → |
| Shared genetic architecture highlights the bidirectional association between major depressive disorder and fracture risk. | Zhao P et al. | — | 2024 | → |
| Shared genetic risk between major orofacial cleft phenotypes in an African population. | Alade A et al. | — | 2024 | → |
| Single-cell multiomic analysis identifies macrophage subpopulations in promoting cardiac repair. | Fu M et al. | — | 2024 | → |
| Single-cell RNA sequencing in donor and end-stage heart failure patients identifies NLRP3 as a therapeutic target for arrhythmogenic right ventricular cardiomyopathy. | Fu M et al. | — | 2024 | → |
| Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and inflammatory diseases. | Tian C et al. | — | 2024 | → |
| Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk. | de Biase MS et al. | — | 2024 | → |
| Standigm ASK™: knowledge graph and artificial intelligence platform applied to target discovery in idiopathic pulmonary fibrosis. | Han S et al. | — | 2024 | → |
| Statistical inference with large-scale trait imputation. | Ren J et al. | — | 2024 | → |
| Statistical Learning of Large-Scale Genetic Data: How to Run a Genome-Wide Association Study of Gene-Expression Data Using the 1000 Genomes Project Data. | Sugolov A et al. | — | 2024 | → |
| Stimulation of insulin secretion induced by low 4-cresol dose involves the RPS6KA3 signalling pathway. | Brial F et al. | — | 2024 | → |
| Subset-based method for cross-tissue transcriptome-wide association studies improves power and interpretability. | Guo X et al. | — | 2024 | → |
| Summary data-based Mendelian randomization and single-cell RNA sequencing analyses identify immune associations with low-level LGALS9 in sepsis. | Yang Y et al. | — | 2024 | → |
| SUMMIT-FA: a new resource for improved transcriptome imputation using functional annotations. | Melton HJ et al. | — | 2024 | → |
| Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks. | McCaw ZR et al. | — | 2024 | → |
| Systematic discovery of gene-environment interactions underlying the human plasma proteome in UK Biobank. | Hillary RF et al. | — | 2024 | → |
| Systemic Lupus Erythematosus and Pregnancy Complications and Outcomes: A Mendelian Randomization Study and Retrospective Validation. | Zhu S et al. | — | 2024 | → |
| Systems genetics of influenza A virus-infected mice identifies TRIM21 as a critical regulator of pulmonary innate immune response. | Li ZA et al. | — | 2024 | → |
| The Alzheimer's Knowledge Base: A Knowledge Graph for Alzheimer Disease Research. | Romano JD et al. | — | 2024 | → |
| The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function. | Zhang J et al. | — | 2024 | → |
| The Biology and Genomics of Human Hair Follicles: A Focus on Androgenetic Alopecia. | Cuevas-Diaz Duran R et al. | — | 2024 | → |
| The Born in Guangzhou Cohort Study enables generational genetic discoveries. | Huang S et al. | — | 2024 | → |
| The causal relationship between human blood metabolites and the risk of visceral obesity: a mendelian randomization analysis. | Wang Z et al. | — | 2024 | → |
| The contribution of silencer variants to human diseases. | Huang D et al. | — | 2024 | → |
| The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism. | Green DJ et al. | — | 2024 | → |
| The correlation between CpG methylation and gene expression is driven by sequence variants. | Stefansson OA et al. | — | 2024 | → |
| The Delfos Platform: A Conceptual Model-Based Solution for the Enhancement of Precision Medicine. | Palacio AL et al. | — | 2024 | → |
| The genetic architecture of biological age in nine human organ systems. | Wen J et al. | — | 2024 | → |
| The genetic architecture of dog ownership: large-scale genome-wide association study in 97,552 European-ancestry individuals. | Gong T et al. | — | 2024 | → |
| The genetic architecture of multimodal human brain age. | Wen J et al. | — | 2024 | → |
| The goldmine of GWAS summary statistics: a systematic review of methods and tools. | Kontou PI et al. | — | 2024 | → |
| The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection. | Hayeck TJ et al. | — | 2024 | → |
| The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art. | Dos Santos JCC et al. | — | 2024 | → |
| The relationship between 11 different polygenic longevity scores, parental lifespan, and disease diagnosis in the UK Biobank. | Don J et al. | — | 2024 | → |
| The relationship between metabolite mediated immune regulatory imbalance and the occurrence of malignant tumors of bone and articular cartilage: a Mendelian randomization study. | Long K et al. | — | 2024 | → |
| The selection landscape and genetic legacy of ancient Eurasians. | Irving-Pease EK et al. | — | 2024 | → |
| THUMPD2 catalyzes the N2-methylation of U6 snRNA of the spliceosome catalytic center and regulates pre-mRNA splicing and retinal degeneration. | Yang WQ et al. | — | 2024 | → |
| Tissue-specific enhancer-gene maps from multimodal single-cell data identify causal disease alleles. | Sakaue S et al. | — | 2024 | → |
| Toward Equitable Precision Oncology: Monitoring Racial and Ethnic Inclusion in Genomics and Clinical Trials. | García-Cárdenas JM et al. | — | 2024 | → |
| Trait selection strategy in multi-trait GWAS: Boosting SNP discoverability. | Suzuki Y et al. | — | 2024 | → |
| Trans-Ancestral Genetic Risk Factors for Treatment-Related Type 2 Diabetes Mellitus in Survivors of Childhood Cancer. | Im C et al. | — | 2024 | → |
| Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma. | Dutta D et al. | — | 2024 | → |
| Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits. | Wittich H et al. | — | 2024 | → |
| TransferGWAS of T1-weighted brain MRI data from UK Biobank. | Rakowski A et al. | — | 2024 | → |
| Transforming Clinical Research: The Power of High-Throughput Omics Integration. | Vitorino R | — | 2024 | → |
| Trim66's paternal deficiency causes intrauterine overgrowth. | Mielnicka M et al. | — | 2024 | → |
| Uncovering the architecture of selection in two <i>Bos taurus</i> cattle breeds. | Rowan TN et al. | — | 2024 | → |
| Understanding the (epi)genetic dysregulation in Parkinson's disease through an integrative brain competitive endogenous RNA network. | Piergiorge RM et al. | — | 2024 | → |
| Unlocking the potential of big data and AI in medicine: insights from biobanking. | Akyüz K et al. | — | 2024 | → |
| Unraveling shared and unique genetic causal relationship between gut microbiota and four types of uterine-related diseases: Bidirectional Mendelian inheritance approaches to dissect the "Gut-Uterus Axis". | Li L et al. | — | 2024 | → |
| Unraveling the shared genetics of common epilepsies and general cognitive ability. | Karadag N et al. | — | 2024 | → |
| Unveiling the Significance of HLA and KIR Diversity in Underrepresented Populations. | Santiago-Lamelas L et al. | — | 2024 | → |
| Use of Artificial Intelligence in Improving Outcomes in Heart Disease: A Scientific Statement From the American Heart Association. | Armoundas AA et al. | — | 2024 | → |
| Use of whole-genome sequence data for fine mapping and genomic prediction of sea louse resistance in Atlantic salmon. | Onabanjo O et al. | — | 2024 | → |
| Using Alternative Definitions of Controls to Increase Statistical Power in GWAS. | Benstock SE et al. | — | 2024 | → |
| Using encrypted genotypes and phenotypes for collaborative genomic analyses to maintain data confidentiality. | Zhao T et al. | — | 2024 | → |
| Validation of a polygenic risk score for frailty in the Lothian Birth Cohort 1936 and English longitudinal study of ageing. | Flint JP et al. | — | 2024 | → |
| Variable calling of m6A and associated features in databases: a guide for end-users. | Song R et al. | — | 2024 | → |
| Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors. | Lin YJ et al. | — | 2024 | → |
| Variant ranking pipeline for complex familial disorders. | Ralli S et al. | — | 2024 | → |
| Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2. | Littleton SH et al. | — | 2024 | → |
| VCAT: an integrated variant function annotation tools. | Huang B et al. | — | 2024 | → |
| Vitamin D constrains inflammation by modulating the expression of key genes on Chr17q12-21.1. | Kilic A et al. | — | 2024 | → |
| Widespread stable noncanonical peptides identified by integrated analyses of ribosome profiling and ORF features. | Yang H et al. | — | 2024 | → |
| X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements. | Scholz M et al. | — | 2024 | → |
| ZCCHC17 Modulates Neuronal RNA Splicing and Supports Cognitive Resilience in Alzheimer's Disease. | Bartosch AMW et al. | — | 2024 | → |
| A comparative atlas of single-cell chromatin accessibility in the human brain. | Li YE et al. | — | 2023 | → |
| A computational method for cell type-specific expression quantitative trait loci mapping using bulk RNA-seq data. | Little P et al. | — | 2023 | → |
| ADRA2A and IRX1 are putative risk genes for Raynaud's phenomenon. | Hartmann S et al. | — | 2023 | → |
| A functional mechanism for a non-coding variant near AGTR2 associated with risk for preterm birth. | Wang L et al. | — | 2023 | → |
| A gene network database for the identification of key genes for diagnosis, prognosis, and treatment in sepsis. | Li Q et al. | — | 2023 | → |
| A genome-wide association, polygenic risk score and sex study on opioid use disorder treatment outcomes. | McEvoy A et al. | — | 2023 | → |
| A History of Repeated Alcohol Intoxication Promotes Cognitive Impairment and Gene Expression Signatures of Disease Progression in the 3xTg Mouse Model of Alzheimer's Disease. | Sanna PP et al. | — | 2023 | → |
| AI/ML advances in non-small cell lung cancer biomarker discovery. | Çalışkan M et al. | — | 2023 | → |
| AI-powered therapeutic target discovery. | Pun FW et al. | — | 2023 | → |
| Allele-specific binding (ASB) analyzer for annotation of allele-specific binding SNPs. | Li Y et al. | — | 2023 | → |
| A Mendelian randomization-based approach to explore the relationship between leukocyte counts and breast cancer risk in European ethnic groups. | Zhang Z et al. | — | 2023 | → |
| An allelic-series rare-variant association test for candidate-gene discovery. | McCaw ZR et al. | — | 2023 | → |
| Ancestry-driven metabolite variation provides insights into disease states in admixed populations. | Reynolds KM et al. | — | 2023 | → |
| A new method for multiancestry polygenic prediction improves performance across diverse populations. | Zhang H et al. | — | 2023 | → |
| A role of inflammaging in aortic aneurysm: new insights from bioinformatics analysis. | Wang S et al. | — | 2023 | → |
| A single-cell transcriptional landscape of immune cells shows disease-specific changes of T cell and macrophage populations in human achalasia. | Liu ZQ et al. | — | 2023 | → |
| Assessing and mitigating privacy risks of sparse, noisy genotypes by local alignment to haplotype databases. | Emani PS et al. | — | 2023 | → |
| Assessing base-resolution DNA mechanics on the genome scale. | Jiang WJ et al. | — | 2023 | → |
| Assessment of Colorectal Cancer Risk Factors through the Application of Network-Based Approaches in a Racially Diverse Cohort of Colon Organoid Stem Cells. | Devall M et al. | — | 2023 | → |
| Assessment of the bidirectional causal association between frailty and depression: A Mendelian randomization study. | Zhu J et al. | — | 2023 | → |
| Association of sex hormones and sex hormone-binding globulin with liver fat in men and women: an observational and Mendelian randomization study. | Cai X et al. | — | 2023 | → |
| Associations of genetic variants contributing to gut microbiota composition in diabetic nephropathy. | Lu X et al. | — | 2023 | → |
| A two-sample Mendelian randomization analysis: causal association between chemokines and pan-carcinoma. | Cui K et al. | — | 2023 | → |
| Beyond genome-wide association studies: Investigating the role of noncoding regulatory elements in primary sclerosing cholangitis. | Pratt HE et al. | — | 2023 | → |
| Beyond the Basics: Unraveling the Complexity of Coronary Artery Calcification. | Hashmi S et al. | — | 2023 | → |
| Brain-region-specific changes in neurons and glia and dysregulation of dopamine signaling in Grin2a mutant mice. | Farsi Z et al. | — | 2023 | → |
| Brain-wide genome-wide colocalization study for integrating genetics, transcriptomics and brain morphometry in Alzheimer's disease. | Bao J et al. | — | 2023 | → |
| Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction. | Bocher O et al. | — | 2023 | → |
| Cardiac Aging Is Promoted by Pseudohypoxia Increasing p300-Induced Glycolysis. | Serio S et al. | — | 2023 | → |
| Causal effects from tobacco smoking initiation on obesity-related traits: a Mendelian randomization study. | Park S et al. | — | 2023 | → |
| Causality between inflammatory bowel disease and the cerebral cortex: insights from Mendelian randomization and integrated bioinformatics analysis. | He S et al. | — | 2023 | → |
| Chromogranin A and its derived peptides: potential regulators of cholesterol homeostasis. | Iyer DR et al. | — | 2023 | → |
| Chromosome 10q24.32 Variants Associate With Brain Arterial Diameters in Diverse Populations: A Genome-Wide Association Study. | Liu M et al. | — | 2023 | → |
| cisDynet: An integrated platform for modeling gene-regulatory dynamics and networks. | Zhu T et al. | — | 2023 | → |
| Cis-meQTL for cocaine use-associated DNA methylation in an HIV-positive cohort show pleiotropic effects on multiple traits. | Cheng Y et al. | — | 2023 | → |
| Clinical trait-specific genetic analysis in Behçet's disease identifies novel loci associated with ocular and neurological involvement. | Casares-Marfil D et al. | — | 2023 | → |
| Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression. | Tian Y et al. | — | 2023 | → |
| Common Genetic Variants of Response to Hepatitis B Vaccines Correlate with Risks of Chronic Infection of Hepatitis B Virus: A Community-Based Case-Control Study. | Wu TW et al. | — | 2023 | → |
| Common Variants on <i>FGD5</i> Increase Hazard of Mortality or Rehospitalization in Patients With Heart Failure From the ASCEND-HF Trial. | Gui H et al. | — | 2023 | → |
| Comorbidity genetic risk and pathways impact SARS-CoV-2 infection outcomes. | Jaros RK et al. | — | 2023 | → |
| Complex effects of sequence variants on lipid levels and coronary artery disease. | Snaebjarnarson AS et al. | — | 2023 | → |
| Comprehensive characterization of human brain-derived extracellular vesicles using multiple isolation methods: Implications for diagnostic and therapeutic applications. | Zhang Z et al. | — | 2023 | → |
| Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes. | Liu N et al. | — | 2023 | → |
| Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer. | Sun J et al. | — | 2023 | → |
| CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes. | Zhu C et al. | — | 2023 | → |
| D2H2: diabetes data and hypothesis hub. | Marino GB et al. | — | 2023 | → |
| Deciphering the causal relationship between blood pressure and regional white matter integrity: A two-sample Mendelian randomization study. | Ye Z et al. | — | 2023 | → |
| Deciphering the decline of metabolic elasticity in aging and obesity. | Zhou Q et al. | — | 2023 | → |
| Deciphering the DNA methylome in women with PCOS diagnosed using the new international evidence-based guidelines. | Wang Y et al. | — | 2023 | → |
| Deep learning of human polyadenylation sites at nucleotide resolution reveals molecular determinants of site usage and relevance in disease. | Stroup EK et al. | — | 2023 | → |
| Design, analysis, and interpretation of treatment response heterogeneity in personalized nutrition and obesity treatment research. | Zoh RS et al. | — | 2023 | → |
| Development of a Polygenic Risk Score for BMI to Assess the Genetic Susceptibility to Obesity and Related Diseases in the Korean Population. | Yoon N et al. | — | 2023 | → |
| Dissecting the human leptomeninges at single-cell resolution. | Kearns NA et al. | — | 2023 | → |
| DisVar: an R library for identifying variants associated with diseases using large-scale personal genetic information. | Chanasongkhram K et al. | — | 2023 | → |
| DNA methylation modulated genetic variant effect on gene transcriptional regulation. | Zeng Y et al. | — | 2023 | → |
| DNA methylation regulator-mediated modification patterns and risk of intracranial aneurysm: a multi-omics and epigenome-wide association study integrating machine learning, Mendelian randomization, eQTL and mQTL data. | Maimaiti A et al. | — | 2023 | → |
| Egg consumption and risk of coronary artery disease, potential amplification by high genetic susceptibility: a prospective cohort study. | Xia X et al. | — | 2023 | → |
| Epigenomic profiling of isolated blood cell types reveals highly specific B cell smoking signatures and links to disease risk. | Wang X et al. | — | 2023 | → |
| Establishment of comorbidity target pools and prediction of drugs candidate for multiple sclerosis and autoimmune thyroid diseases based on GWAS and transcriptome data. | Wang X et al. | — | 2023 | → |
| Ethical considerations when co-analyzing ancient DNA and data from private genetic databases. | Harney É et al. | — | 2023 | → |
| Evaluating 17 methods incorporating biological function with GWAS summary statistics to accelerate discovery demonstrates a tradeoff between high sensitivity and high positive predictive value. | Moore A et al. | — | 2023 | → |
| Evaluating significance of European-associated index SNPs in the East Asian population for 31 complex phenotypes. | Qiao J et al. | — | 2023 | → |
| Evaluation of optimal methods and ancestries for calculating polygenic risk scores in East Asian population. | Kim DJ et al. | — | 2023 | → |
| Evidence for the role of selection for reproductively advantageous alleles in human aging. | Long E et al. | — | 2023 | → |
| Evolutionary Action-Machine Learning Model Identifies Candidate Genes Associated With Early-Onset Coronary Artery Disease. | Shapiro D et al. | — | 2023 | → |
| eXclusionarY: 10 years later, where are the sex chromosomes in GWASs? | Sun L et al. | — | 2023 | → |
| Exploring disease-causing traits for drug repurposing in critically ill COVID-19 patients: A causal inference approach. | Baukmann HA et al. | — | 2023 | → |
| Exploring the Regulation and Function of <i>Rpl3l</i> in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach. | Bajpai AK et al. | — | 2023 | → |
| Expression quantitative trait methylation analysis elucidates gene regulatory effects of DNA methylation: the Framingham Heart Study. | Keshawarz A et al. | — | 2023 | → |
| Folate Intake and Ovarian Cancer Risk among Women with Endometriosis: A Case-Control Study from the Ovarian Cancer Association Consortium. | Gersekowski K et al. | — | 2023 | → |
| Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. | Chen Z et al. | — | 2023 | → |
| GATA2 co-opts TGFβ1/SMAD4 oncogenic signaling and inherited variants at 6q22 to modulate prostate cancer progression. | Yang X et al. | — | 2023 | → |
| Gene and pathway based burden analyses in familial lymphoid cancer cases: Rare variants in immune pathway genes. | Ralli S et al. | — | 2023 | → |
| Gene-environment interactions and the effect on obesity risk in low and middle-income countries: a scoping review. | Pledger SL et al. | — | 2023 | → |
| Gene expression in African Americans, Puerto Ricans and Mexican Americans reveals ancestry-specific patterns of genetic architecture. | Kachuri L et al. | — | 2023 | → |
| Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results. | Baron C et al. | — | 2023 | → |
| Genes, environment, and African ancestry in cardiometabolic disorders. | Doumatey AP et al. | — | 2023 | → |
| Genetically predicted waist-to-hip circumference ratio and coronary artery disease: A sex-specific Mendelian randomization study. | Ye Q et al. | — | 2023 | → |
| Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits. | Brown AA et al. | — | 2023 | → |
| Genetic determinants of Vitamin D deficiency in the Middle Eastern Qatari population: a genome-wide association study. | Hendi NN et al. | — | 2023 | → |
| Genetic diversity and signatures of selection in four indigenous horse breeds of Iran. | Mousavi SF et al. | — | 2023 | → |
| Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic. | Cheng X et al. | — | 2023 | → |
| Genetic insights into resting heart rate and its role in cardiovascular disease. | van de Vegte YJ et al. | — | 2023 | → |
| Genetic pathways regulating the longitudinal acquisition of cocaine self-administration in a panel of inbred and recombinant inbred mice. | Khan AH et al. | — | 2023 | → |
| Genetics and Epigenetics in Obesity: What Do We Know so Far? | Keller M et al. | — | 2023 | → |
| Genetics of cannabis use in opioid use disorder: A genome-wide association and polygenic risk score study. | Hillmer A et al. | — | 2023 | → |
| Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. | Ferar K et al. | — | 2023 | → |
| Genome mining yields putative disease-associated ROMK variants with distinct defects. | Nguyen NH et al. | — | 2023 | → |
| Genome-wide Association Analysis of Schizophrenia and Vitamin D Levels Shows Shared Genetic Architecture and Identifies Novel Risk Loci. | Jaholkowski P et al. | — | 2023 | → |
| Genome-wide association studies and cross-population meta-analyses investigating short and long sleep duration. | Austin-Zimmerman I et al. | — | 2023 | → |
| Genome-wide association studies on coronary artery disease: A systematic review and implications for populations of different ancestries. | Silva S 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 a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels. | Munsch G et al. | — | 2023 | → |
| Genome-Wide Association Study of Pericardial Fat Area in 28 161 UK Biobank Participants. | Salih A et al. | — | 2023 | → |
| Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10. | Aleknonytė-Resch M et al. | — | 2023 | → |
| Genome-wide DNA methylation association study of recent and cumulative marijuana use in middle aged adults. | Nannini DR et al. | — | 2023 | → |
| Genome-wide enhancer-gene regulatory maps link causal variants to target genes underlying human cancer risk. | Ying P et al. | — | 2023 | → |
| Genome-wide identification of transcriptional enhancers during human placental development and association with function, differentiation, and disease†. | Owen DM et al. | — | 2023 | → |
| Genome-wide prediction of disease variant effects with a deep protein language model. | Brandes N et al. | — | 2023 | → |
| Genomic loci influence patterns of structural covariance in the human brain. | Wen J et al. | — | 2023 | → |
| Genomics of Treatable Traits in Asthma. | Espuela-Ortiz A et al. | — | 2023 | → |
| Genotype and phenotype data standardization, utilization and integration in the big data era for agricultural sciences. | Deng CH et al. | — | 2023 | → |
| GIRUS-net: A Multimodal Deep Learning Model Identifying Imaging and Genetic Biomarkers Linked to Alzheimer's Disease Severity. | Wu S et al. | — | 2023 | → |
| Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function. | Mortlock S et al. | — | 2023 | → |
| graph-GPA 2.0: improving multi-disease genetic analysis with integration of functional annotation data. | Deng Q et al. | — | 2023 | → |
| GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. | International League Against Epilepsy Consortium on Complex Epilepsies | — | 2023 | → |
| Heart-brain connections: Phenotypic and genetic insights from magnetic resonance images. | Zhao B et al. | — | 2023 | → |
| Hidden modes of DNA binding by human nuclear receptors. | Bhimsaria D et al. | — | 2023 | → |
| High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes. | Duan YY et al. | — | 2023 | → |
| HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases. | Butler-Laporte G et al. | — | 2023 | → |
| Human genetic adaptation related to cellular zinc homeostasis. | Roca-Umbert A et al. | — | 2023 | → |
| Human-genome single nucleotide polymorphisms affecting transcription factor binding and their role in pathogenesis. | Antontseva EV et al. | — | 2023 | → |
| Human microglial state dynamics in Alzheimer's disease progression. | Sun N et al. | — | 2023 | → |
| <i>De novo</i> identification of complex traits associated with asthma. | Zaied RE et al. | — | 2023 | → |
| Identification of circulating proteins associated with general cognitive function among middle-aged and older adults. | Tin A et al. | — | 2023 | → |
| Identification of differences in CD4<sup>+</sup> T-cell gene expression between people with asthma and healthy controls. | Tutino M et al. | — | 2023 | → |
| Identification of genetic variants in two families with Keratoconus. | Lin Q et al. | — | 2023 | → |
| Identification of myokines susceptible to improve glucose homeostasis after bariatric surgery. | Orioli L et al. | — | 2023 | → |
| Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders. | Karadag N et al. | — | 2023 | → |
| Identification of Potential Therapeutic Targets for Myopic Choroidal Neovascularization via Discovery-Driven Data Mining. | Chen J et al. | — | 2023 | → |
| Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways. | Turley TN et al. | — | 2023 | → |
| Identification of the shared genetic architecture underlying seven autoimmune diseases with GWAS summary statistics. | Wang Y et al. | — | 2023 | → |
| Identifying pathogenic variants related to systemic lupus erythematosus by integrating genomic databases and a bioinformatic approach. | Yudhani RD et al. | — | 2023 | → |
| Improve the model of disease subtype heterogeneity by leveraging external summary data. | Fu S et al. | — | 2023 | → |
| Inferring disease architecture and predictive ability with LDpred2-auto. | Privé F et al. | — | 2023 | → |
| Influence of alcohol consumption and alcohol metabolism variants on breast cancer risk among Black women: results from the AMBER consortium. | Young KL et al. | — | 2023 | → |
| Integrated epigenome, whole genome sequence and metabolome analyses identify novel multi-omics pathways in type 2 diabetes: a Middle Eastern study. | Yousri NA et al. | — | 2023 | → |
| Integrating GWAS summary statistics, individual-level genotypic and omic data to enhance the performance for large-scale trait imputation. | Ren J et al. | — | 2023 | → |
| Integration of eQTL and GWAS analysis uncovers a genetic regulation of natural ionomic variation in Arabidopsis. | Xu C et al. | — | 2023 | → |
| Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases. | Guo MG et al. | — | 2023 | → |
| Integrative analysis reveals early epigenetic alterations in high-grade serous ovarian carcinomas. | Machino H et al. | — | 2023 | → |
| Interchromosomal Colocalization with Parental Genes Is Linked to the Function and Evolution of Mammalian Retrocopies. | Yan Y et al. | — | 2023 | → |
| Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients. | Al-Jumaan M et al. | — | 2023 | → |
| Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization. | Willems SM et al. | — | 2023 | → |
| Large-scale plasma proteomics comparisons through genetics and disease associations. | Eldjarn GH et al. | — | 2023 | → |
| Leptin and IGF-1 in Infancy Are Associated With Variants in DHCR7 and CYP2R1 That Relate With Type 1 Diabetes and 25OHD. | Eleftheriou A et al. | — | 2023 | → |
| Life is pain: Fibromyalgia as a nexus of multiple liability distributions. | Moscati A et al. | — | 2023 | → |
| Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families. | Hebbar P et al. | — | 2023 | → |
| Localization Pattern of Dispatched Homolog 2 (DISP2) in the Central and Enteric Nervous System. | Heimke M 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-term outcomes of offspring from multiple gestations: a two-sample Mendelian randomization study on multi-system diseases using UK Biobank and FinnGen databases. | Jiang Y et al. | — | 2023 | → |
| Loss of ASD-related molecule Cntnap2 affects colonic motility in mice. | Robinson BG et al. | — | 2023 | → |
| Mapping disease regulatory circuits at cell-type resolution from single-cell multiomics data. | Chen X et al. | — | 2023 | → |
| Mapping genetic effects on cell type-specific chromatin accessibility and annotating complex immune trait variants using single nucleus ATAC-seq in peripheral blood. | Benaglio P et al. | — | 2023 | → |
| Methamphetamine-induced region-specific transcriptomic and epigenetic changes in the brain of male rats. | Miao B et al. | — | 2023 | → |
| MethNet: a robust approach to identify regulatory hubs and their distal targets in cancer | Skok J et al. | — | 2023 | — |
| Microsatellites used in forensics are in regions enriched for trait-associated variants. | Link V et al. | — | 2023 | → |
| miR-9-5p deficiency contributes to schizophrenia. | Fu X et al. | — | 2023 | → |
| MTMR3 risk alleles enhance Toll Like Receptor 9-induced IgA immunity in IgA nephropathy. | Wang YN et al. | — | 2023 | → |
| multi-GPA-Tree: Statistical approach for pleiotropy informed and functional annotation tree guided prioritization of GWAS results. | Khatiwada A et al. | — | 2023 | → |
| Multi-layered transcriptomic analysis reveals a pivotal role of FMR1 and other developmental genes in Alzheimer's disease-associated brain ceRNA network. | Piergiorge RM et al. | — | 2023 | → |
| Multimodal analysis methods in predictive biomedicine. | Qoku A et al. | — | 2023 | → |
| Multi-PGS enhances polygenic prediction by combining 937 polygenic scores. | Albiñana C et al. | — | 2023 | → |
| Multi-scale systems genomics analysis predicts pathways, cell types, and drug targets involved in normative variation in peri-adolescent human cognition. | Pai S et al. | — | 2023 | → |
| Multitissue H3K27ac profiling of GTEx samples links epigenomic variation to disease. | Hou L et al. | — | 2023 | → |
| Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations. | Araujo DS et al. | — | 2023 | → |
| Multivariate genome-wide analysis of aging-related traits identifies novel loci and new drug targets for healthy aging. | Rosoff DB et al. | — | 2023 | → |
| Nature and nurture: understanding phenotypic variation in inborn errors of immunity. | Similuk M et al. | — | 2023 | → |
| Non-Random Enrichment of Single-Nucleotide Polymorphisms Associated with Clopidogrel Resistance within Risk Loci Linked to the Severity of Underlying Cardiovascular Diseases: The Role of Admixture. | Monero-Paredes M et al. | — | 2023 | → |
| Novel Alzheimer's disease genes and epistasis identified using machine learning GWAS platform. | Lundberg M et al. | — | 2023 | → |
| Overlap in synaptic neurological condition susceptibility pathways and the neural pannexin 1 interactome revealed by bioinformatics analyses. | Frederiksen SD et al. | — | 2023 | → |
| P2RX7 gene knockout or antagonism reduces angiotensin II-induced hypertension, vascular injury and immune cell activation. | Shokoples BG et al. | — | 2023 | → |
| Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis. | Sato G et al. | — | 2023 | → |
| Pathogen-specific innate immune response patterns are distinctly affected by genetic diversity. | Häder A et al. | — | 2023 | → |
| Pertinence of glioma and single nucleotide polymorphism of TERT, CCDC26, CDKN2A/B and RTEL1 genes in glioma: a meta-analysis. | Wu Y et al. | — | 2023 | → |
| Phenotypic but not genetically predicted heart rate variability associated with all-cause mortality. | Tegegne BS et al. | — | 2023 | → |
| PheWAS and cross-disorder analysis reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders. | Topaloudi A et al. | — | 2023 | → |
| Polygenic Risk, Rare Variants, and Family History: Independent and Additive Effects on Coronary Heart Disease. | Saadatagah S et al. | — | 2023 | → |
| Polygenic scores in cancer. | Yang X et al. | — | 2023 | → |
| PopTradeOff: A database for exploring population-specificity of adaptive evolution, disease susceptibility, and drug responsiveness. | Tang J et al. | — | 2023 | → |
| Population history modulates the fitness effects of Copy Number Variation in the Roma. | Antinucci M et al. | — | 2023 | → |
| Precision medicine of obesity as an integral part of type 2 diabetes management - past, present, and future. | Szczerbinski L et al. | — | 2023 | → |
| Preference matrix guided sparse canonical correlation analysis for mining brain imaging genetic associations in Alzheimer's disease. | Sha J et al. | — | 2023 | → |
| Prioritization of risk genes for Alzheimer's disease: an analysis framework using spatial and temporal gene expression data in the human brain based on support vector machine. | Wang S et al. | — | 2023 | → |
| Prioritization of therapeutic targets for dyslipidemia using integrative multi-omics and multi-trait analysis. | Kim MS et al. | — | 2023 | → |
| Prioritizing cardiovascular disease-associated variants altering NKX2-5 and TBX5 binding through an integrative computational approach. | Peña-Martínez EG et al. | — | 2023 | → |
| Privacy-preserving federated genome-wide association studies via dynamic sampling. | Wang X et al. | — | 2023 | → |
| Rare genetic variants impact muscle strength. | Huang Y et al. | — | 2023 | → |
| Rare penetrant mutations confer severe risk of common diseases. | Fiziev PP et al. | — | 2023 | → |
| Rate-Limiting Enzymes in Cardiometabolic Health and Aging in Humans. | Parnell LD et al. | — | 2023 | → |
| Recent positive selection signatures reveal phenotypic evolution in the Han Chinese population. | Luo H et al. | — | 2023 | → |
| Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer. | Mukamel RE et al. | — | 2023 | → |
| Research priorities for the secondary prevention and management of acute rheumatic fever and rheumatic heart disease: a National Heart, Lung, and Blood Institute workshop report. | Karthikeyan G et al. | — | 2023 | → |
| Risk factors for human papillomavirus infection, cervical intraepithelial neoplasia and cervical cancer: an umbrella review and follow-up Mendelian randomisation studies. | Bowden SJ et al. | — | 2023 | → |
| Risk of second primary cancers after a diagnosis of first primary cancer: A pan-cancer analysis and Mendelian randomization study. | Ruan X et al. | — | 2023 | → |
| RNA-sequencing of peripheral whole blood of individuals at ultra-high-risk for psychosis - A longitudinal perspective. | Tan SMX et al. | — | 2023 | → |
| Role of Abelson Helper Integration Site 1, Nebulin, and Paired Box 3 Genes in the Development of Nonsyndromic Strabismus in a Series of Iranian Families: Sequence Analysis and Systematic Review of the Genetics of Nonsyndromic Strabismus. | Rahpeyma M et al. | — | 2023 | → |
| Role of endogenous and exogenous antioxidants in risk of six cancers: evidence from the Mendelian randomization study. | Zhu J et al. | — | 2023 | → |
| Screening for functional regulatory variants in open chromatin using GenIE-ATAC. | Cooper S et al. | — | 2023 | → |
| SEanalysis 2.0: a comprehensive super-enhancer regulatory network analysis tool for human and mouse. | Qian FC et al. | — | 2023 | → |
| Sequence variants affecting voice pitch in humans. | Gisladottir RS et al. | — | 2023 | → |
| Shared Genetic Architecture between Parkinson's Disease and Brain Structural Phenotypes. | Ma DR et al. | — | 2023 | → |
| Shared genetic risk loci between Alzheimer's disease and related dementias, Parkinson's disease, and amyotrophic lateral sclerosis. | Wainberg M et al. | — | 2023 | → |
| Similarity and diversity of genetic architecture for complex traits between East Asian and European populations. | Zhang J et al. | — | 2023 | → |
| Single-nucleus multiregion transcriptomic analysis of brain vasculature in Alzheimer's disease. | Sun N et al. | — | 2023 | → |
| Spatiotemporal expression patterns of anxiety disorder-associated genes. | Karunakaran KB et al. | — | 2023 | → |
| Stratified genome-wide association analysis of type 2 diabetes reveals subgroups with genetic and environmental heterogeneity. | Christiansen CE et al. | — | 2023 | → |
| Structure-informed clustering for population stratification in association studies. | Bose A et al. | — | 2023 | → |
| Systematic characterization of regulatory variants of blood pressure genes. | Oliveros W et al. | — | 2023 | → |
| Systems genetics approaches for understanding complex traits with relevance for human disease. | Allayee H et al. | — | 2023 | → |
| Targeted Metabolomics Analysis of Individuals Carrying the ANGPTL8 R59W Variant. | Abu-Farha M et al. | — | 2023 | → |
| Testing associations between human anxiety and genes previously implicated by mouse anxiety models. | Brasher MS et al. | — | 2023 | → |
| The associations between asthma and common comorbidities: a comprehensive Mendelian randomization study. | Wang X et al. | — | 2023 | → |
| The causal relationship of colorectal cancer on schizophrenia: A Mendelian randomization study. | Kim S et al. | — | 2023 | → |
| The complete sequence of a human Y chromosome. | Rhie A et al. | — | 2023 | → |
| The consequences of data dispersion in genomics: a comparative analysis of data sources for precision medicine. | Costa M et al. | — | 2023 | → |
| The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism. | Xia C et al. | — | 2023 | → |
| The CYP24A1 gene variant rs2762943 is associated with low serum 1,25-dihydroxyvitamin D levels in multiple sclerosis patients. | Malhotra S et al. | — | 2023 | → |
| The genetic architecture of fornix white matter microstructure and their involvement in neuropsychiatric disorders. | Ou YN et al. | — | 2023 | → |
| The Genetic Architecture of Vitamin D Deficiency among an Elderly Lebanese Middle Eastern Population: An Exome-Wide Association Study. | Hendi NN et al. | — | 2023 | → |
| The mutational landscape of a US Midwestern breast cancer cohort reveals subtype-specific cancer drivers and prognostic markers. | Vellichirammal NN et al. | — | 2023 | → |
| The PENGUIN approach to reconstruct protein interactions at enhancer-promoter regions and its application to prostate cancer. | Armaos A et al. | — | 2023 | → |
| The phenotype-genotype reference map: Improving biobank data science through replication. | Bastarache L et al. | — | 2023 | → |
| The polygenic and reactive nature of observed parenting. | Runze J et al. | — | 2023 | → |
| The Proinflammatory Role of ANGPTL8 R59W Variant in Modulating Inflammation through NF-κB Signaling Pathway under TNFα Stimulation. | Abu-Farha M et al. | — | 2023 | → |
| The role of fibrinolysis in vascular diseases in UK biobank. | Zöller B et al. | — | 2023 | → |
| The SYSCID map: a graphical and computational resource of molecular mechanisms across rheumatoid arthritis, systemic lupus erythematosus and inflammatory bowel disease. | Acencio ML et al. | — | 2023 | → |
| Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure. | Lee D et al. | — | 2023 | → |
| TNIK is a conserved regulator of glucose and lipid metabolism in obesity. | Pham TCP et al. | — | 2023 | → |
| Toward Identification of Functional Sequences and Variants in Noncoding DNA. | Monti R et al. | — | 2023 | → |
| Transcription factor-binding k-mer analysis clarifies the cell type dependency of binding specificities and cis-regulatory SNPs in humans. | Tahara S et al. | — | 2023 | → |
| Transcription factors organize into functional groups on the linear genome and in 3D chromatin. | Vadnala RN et al. | — | 2023 | → |
| Transfer learning with false negative control improves polygenic risk prediction. | Jeng XJ et al. | — | 2023 | → |
| Transforming drug discovery with a high-throughput AI-powered platform: A 5-year experience with Patrimony. | Blaudin de Thé FX et al. | — | 2023 | → |
| Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate. | Robinson K et al. | — | 2023 | → |
| Tumour mutations in long noncoding RNAs enhance cell fitness. | Esposito R et al. | — | 2023 | → |
| Type 2 diabetes susceptibility gene GRK5 regulates physiological pancreatic β-cell proliferation via phosphorylation of HDAC5. | Sasaki S et al. | — | 2023 | → |
| Unappreciated subcontinental admixture in Europeans and European Americans and implications for genetic epidemiology studies. | Gouveia MH et al. | — | 2023 | → |
| Underlying causes for prevalent false positives and false negatives in STARR-seq data. | Ni P et al. | — | 2023 | → |
| Using Drosophila to identify naturally occurring genetic modifiers of amyloid beta 42- and tau-induced toxicity. | Yang M et al. | — | 2023 | → |
| White adipose tissue: Distribution, molecular insights of impaired expandability, and its implication in fatty liver disease. | Rabadán-Chávez G et al. | — | 2023 | → |
| Whole-genome alignment with primates reveals DNA elements conserved in humans. | — | — | 2023 | → |
| XMAP: Cross-population fine-mapping by leveraging genetic diversity and accounting for confounding bias. | Cai M et al. | — | 2023 | → |
| Zebrafish as a Model for Osteoporosis: Functional Validations of Genome-Wide Association Studies. | Ben-Zvi I et al. | — | 2023 | → |