A global reference for human genetic variation.
paper
Cited
Public
- Authors
- 1000 Genomes Project Consortium; Auton, Adam; Brooks, Lisa D; Durbin, Richard M; Garrison, Erik P; Kang, Hyun Min; Korbel, Jan O; Marchini, Jonathan L; McCarthy, Shane; McVean, Gil A; Abecasis, Gonçalo R
- Year
- 2015
- Journal
- Nature
- PMID
- 26432245
- DOI
- 10.1038/nature15393
- PMCID
- PMC4750478
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.
Figure 1
Population sampling.a, Polymorphic variants within sampled populations. The area of each pie is proportional to the number of polymorphisms within a population. Pies are divided into four slices, representing variants private to a population (darker colour unique to population), private to a continental area (lighter colour shared across continental group), shared across continental areas (light grey), and shared across all continents (dark grey). Dashed lines indicate populations sampled outside of their ancestral continental region. b, The number of variant sites per genome. c, The average number of singletons per genome.PowerPoint slide
Figure 2
Population structure and demography.a, Population structure inferred using a maximum likelihood approach with 8 clusters. b, Changes to effective population sizes over time, inferred using PSMC. Lines represent the within-population median PSMC estimate, smoothed by fitting a cubic spline passing through bin midpoints.PowerPoint slide
Figure 3
Population differentiation.a, Variants found to be rare (<0.5%) within the global sample, but common (>5%) within a population. b, Genes showing strong differentiation between pairs of closely related populations. The vertical axis gives the maximum obtained value of the FST-based population branch statistic (PBS), with selected genes coloured to indicate the population in which the maximum value was achieved.PowerPoint slide
Figure 4
Imputation and eQTL discovery.a, Imputation accuracy as a function of allele frequency for six populations. The insert compares imputation accuracy between phase 3 and phase 1, using all samples (solid lines) and intersecting samples (dashed lines). b, The average number of tagging variants (r2 > 0.8) as a function of physical distance for common (top), low frequency (middle), and rare (bottom) variants. c, The proportion of top eQTL variants that are SNPs and indels, as discovered in 69 samples from each population. d, The percentage of eQTLs in TFBS, having performed discovery in the first population, and fine mapped by including an additional 69 samples from a second population (*P < 0.01, **P < 0.001, ***P < 0.0001, McNemar’s test). The diagonal represents the percentage of eQTLs in TFBS using the original discovery sample.PowerPoint slide
| # | Section | Preview |
|---|---|---|
| 20 | Resolution of genetic association studies | Among variants in the GWAS catalogue (which have an average frequency of 26.6% in project… |
| 21 | Resolution of genetic association studies | To further assess prospects for fine-mapping genetic association signals, we performed expression… |
| 22 | Discussion | Over the course of the 1000 Genomes Project there have been substantial advances in sequence data… |
| 23 | Discussion | limited33. In addition, the evolution of sequencing, analysis and filtering strategies means that… |
| 24 | Discussion | These same technical advances are enabling the application of whole genome sequencing to a variety… |
| 25 | Discussion | be shared broadly, enabling sequencing strategies and analysis methods to be compared easily on a… |
| 26 | Supplementary information | Supplementary InformationThis file contains Supplementary Methods, Supplementary References and… |
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| Insights into human history and complex traits from the genomes of African populations. | Bitsue HK et al. | — | 2026 | → |
| Insights into inherited genetic variations and genetic ancestry of patients with high-risk melanoma. | Tarhini AA et al. | — | 2026 | → |
| Integrated Cross-Platform Analysis Reveals Candidate Variants and Linkage Disequilibrium-Defined Loci Associated with Osteoporosis in Korean Postmenopausal Women. | Kim SK et al. | — | 2026 | → |
| Integrated morphological, immunohistochemical, and genomic profiling identifies uterine leiomyoma patients with hereditary leiomyomatosis and renal cell cancer syndrome: a comprehensive analysis of 252 cases. | Liu Y et al. | — | 2026 | → |
| Integrating Multiomic Mendelian Randomization, Microarray, Single-Cell RNA Sequencing, and Spatial RNA Sequencing to Identify Potential Therapeutic Targets for Vitiligo. | Huang J et al. | — | 2026 | → |
| Integrating Pathogenic Variants, Polygenic Risk Score, and Family History for Prostate Cancer Risk Estimation in Men of African Ancestry. | Chen F et al. | — | 2026 | → |
| Integrating polygenic signals and single-cell multiomics identifies cell-type-specific regulomes critical for immune- and aging-related diseases. | Ma Y et al. | — | 2026 | → |
| Integration of Genome-Wide Association Studies With Single-Cell and Bulk Expression Quantitative Trait Locus to Identify Stroke Susceptibility Genes. | He Y et al. | — | 2026 | → |
| Integration of latent factor analysis into multivariable Mendelian randomization. | Zhang Y et al. | — | 2026 | → |
| Integrative multi-omics genomics prioritizes causal therapeutic targets for salt sensitive of blood pressure. | Zhang B et al. | — | 2026 | → |
| Investigating the Shared Genetic Architecture of 3 Age-Related Ocular Disorders. | Bai ZP et al. | — | 2026 | → |
| JoGo 1.0: the ACTG hierarchical nomenclature and database covering 4.7 million haplotypes across 19,194 human genes. | Nagasaki M et al. | — | 2026 | → |
| Large-scale identification of protein biomarkers and therapeutic targets in heart and brain disease. | Wu C et al. | — | 2026 | → |
| Leveraging pleiotropy to improve genetic risk prediction across diseases. | Hu J et al. | — | 2026 | → |
| Leveraging polygenic risk scores to infer causal directions in genotype-by-environment interactions between complex traits. | Fentaw Z et al. | — | 2026 | → |
| Lifecourse genome-wide association study meta-analysis refines the critical life stages for adiposity's influence on breast cancer risk. | Power GM et al. | — | 2026 | → |
| LiMA: Robust inference of molecular mediation from summary statistics. | Lepik K et al. | — | 2026 | → |
| Linking Genetics to Behavior: From Glutamatergic Genetic Variation Via Amygdala Morphology and Fear Recognition to Youths' Callous-Unemotional Traits and Reactive-Proactive Aggression. | Kleine Deters R et al. | — | 2026 | → |
| Lipid-Related Polygenic Risk Score and Its Association With Plaque Rupture Versus Erosion. | Hamana T et al. | — | 2026 | → |
| Liver Steatosis-Related Polygenic Risk Score Predicts Hepatocellular Carcinoma Risk After Hepatitis C Virus Eradication. | Lin YS et al. | — | 2026 | → |
| Long-Term Cardiovascular Health Trajectories Associated With Cardiovascular Disease and Mortality in Older Adults. | Li Y et al. | — | 2026 | → |
| Loss of Y Chromosome and Major Cardiovascular Events in a Prospective Study of Older Men. | Hussain SM et al. | — | 2026 | → |
| <i>CMTM8</i> variants influence BNT162b2 COVID-19 vaccination response by regulating granulocytic/polymorphonuclear myeloid-derived suppressor cell activity. | Testori A et al. | — | 2026 | → |
| m6AConquer: a consistently quantified and orthogonally validated database for the N6-methyladenosine (m6A) epitranscriptome. | Zhao X et al. | — | 2026 | → |
| Machine learning for evolutionary genetics and molecular evolution. | Svetec N et al. | — | 2026 | → |
| Mapping the genetic landscape across 14 psychiatric disorders. | Grotzinger AD et al. | — | 2026 | → |
| MELK is Required for G2/M Phase Progression in Cortical Progenitors: Insights from Rare ASD-Associated Variants. | Zhao L et al. | — | 2026 | → |
| Mendelian randomization analysis of the causal relationship between micronutrients and childhood asthma. | Liu Z et al. | — | 2026 | → |
| Mendelian randomization identifies multiple immune cell surface markers as potential causal contributors and drug targets in rheumatoid arthritis. | Huang G et al. | — | 2026 | → |
| Mendelian randomization study of causality between 35 blood and urine biomarkers and age-related eye diseases. | Chen J et al. | — | 2026 | → |
| Metabolic polygenic risk scores for prediction of obesity, type 2 diabetes, and related morbidities. | Kim MS et al. | — | 2026 | → |
| MHappaMundi: A custom AmpliSeq microhaplotype panel for ancestry inference. | Rodrigues P et al. | — | 2026 | → |
| Mitonuclear Discordance and Gout, Type 2 Diabetes and Chronic Kidney Disease in Aotearoa New Zealand Indigenous Māori and Pacific People. | Dickerson RR et al. | — | 2026 | → |
| Mixed-model and transcriptome-wide association analyses identify transcription factors and genes associated with colorectal cancer susceptibility. | Chen Z et al. | — | 2026 | → |
| Moderating effects of childhood deprivation and threat on the relationship between polygenic score and internalizing symptoms: A longitudinal analysis. | Oliveira AM et al. | — | 2026 | → |
| Molecular systems, human noncoding sequence variants, and blood pressure. | Qiu Q et al. | — | 2026 | → |
| Multiancestry Genome-Wide Association Study Identifies Variants in a Zinc Finger Gene Cluster as Novel Regulators of HIV Control. | Awada A et al. | — | 2026 | → |
| Multi-marker testing based on accelerated failure time models under possible left truncation and competing risks. | Li C et al. | — | 2026 | → |
| Multi-omics identifies oxidative stress, prothrombotic pathways, and lactoperoxidase variants as key factors in COVID-19 severity. | Cappadona C et al. | — | 2026 | → |
| Multi-organ network of cardiometabolic disease-depression multimorbidity revealed by phenotypic and genetic analyses of MR images. | Wang J et al. | — | 2026 | → |
| Multisite, Multiancestry Genome-Wide Association Study Meta-Analysis of Functional Seizure Disorder in a Hospital Sample of 675,680 Patients. | Goleva SB et al. | — | 2026 | → |
| Mutations in histone lysine methyltransferase genes are associated with autoimmune cytopenias: a single-center study. | Xiao Z et al. | — | 2026 | → |
| Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's disease. | Bledsoe X et al. | — | 2026 | → |
| No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism. | Najera J et al. | — | 2026 | → |
| Novel Genetic Risk Factor Identified for L-Asparaginase-Induced Pancreatitis in Pediatric Patients With Cancer. | Raack EJ et al. | — | 2026 | → |
| Nutrition in early life interacts with genetic risk to influence preadult behaviour in the Raine Study. | Byg LM et al. | — | 2026 | → |
| Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank. | Rioux B et al. | — | 2026 | → |
| Optimising Genome-Wide Detection of Runs of Homozygosity: Impacts of Reference Genome Quality and Sequencing Parameters on Inbreeding Assessment. | Shi M et al. | — | 2026 | → |
| PenCards: a global and community-contributed public archive of variant penetrance. | Zhu Z et al. | — | 2026 | → |
| Periodic Genetic Reanalysis Identifies a Novel De Novo <i>NOTCH1</i> Variant: A Case Report. | Aydin E et al. | — | 2026 | → |
| Personality Genomics. | Schwaba T et al. | — | 2026 | → |
| Phantom epistasis through the lens of genealogies. | Ignatieva A et al. | — | 2026 | → |
| Pharmacogenetics-Not Just Low-Hanging Fruit. | Cascorbi I et al. | — | 2026 | → |
| Pharmacogenetics of Mycophenolic Acid in Patients of African Descent: Underrepresentation of African Data. | Mouton M et al. | — | 2026 | → |
| PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature. | Papanikolaou G et al. | — | 2026 | → |
| Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability. | Lundie B et al. | — | 2026 | → |
| Plasma proteomic signature of the human menstrual cycle. | Riishede I et al. | — | 2026 | → |
| Pleiotropic gene mapping reveals shared immune regulatory hubs across 15 autoimmune diseases. | Jin Y et al. | — | 2026 | → |
| Polygenic Associations Between Motor Behavior, Neuromotor Traits, and Active Music Engagement in Four Cohorts. | Henechowicz TL et al. | — | 2026 | → |
| Polygenic risk and rare variants in endotypes of idiopathic pulmonary fibrosis: a genetic analysis of population-based and case-control cohorts. | Duckworth A et al. | — | 2026 | → |
| Polygenic Risk for Cardiometabolic and Cardiovascular Disease in a Multiethnic Cohort of Breast Cancer Survivors. | Fiorica PN et al. | — | 2026 | → |
| Polygenic risk moderation of stressful life events in alcohol use disorder severity. | Agabani Z et al. | — | 2026 | → |
| Polygenic Risk Scores for Breast Cancer: Modern Approaches to Risk Prediction and Subtype Identification. | Dipp-Martin K et al. | — | 2026 | → |
| Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements. | Nguyen HHK et al. | — | 2026 | → |
| Polygenic Risk Scores Predicting Estimated GFR Validated With Iohexol Clearance. | Eriksen BO et al. | — | 2026 | → |
| Powering the mind: deciphering the shared genetic architecture between mitochondrial DNA copy number and major psychiatric disorders. | Xue H et al. | — | 2026 | → |
| Precise, minimally evolved adenine base editors generated through mutation reversion analysis. | Evanoff M et al. | — | 2026 | → |
| Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant. | Martinelli E et al. | — | 2026 | → |
| Precision Medicine Targets in Glymphatic System Dysfunction: A Genomic and Molecular Perspective. | Wang Q et al. | — | 2026 | → |
| Precision pharmaceutics: bioinformatics and pharmacogenomics as catalysts for personalized drug therapy. | Saini JPS et al. | — | 2026 | → |
| Predicting the functional impact of single nucleotide variants in Drosophila melanogaster with FlyCADD. | Beets J et al. | — | 2026 | → |
| Preservation of proteomic and genomic genotypes in skeletal material from forensically treated cadavers. | Parker G et al. | — | 2026 | → |
| Probing Proteoform Heterogeneity From Single Human Oocytes. | Fisher NP et al. | — | 2026 | → |
| Proteoforms as the true units of physiological function. | Cobley JN | — | 2026 | → |
| Proteome-wide Mendelian randomization and colocalization analyses identify novel protein targets for cardiac conduction disorders. | Song ZQ et al. | — | 2026 | → |
| Proteomics networks linking diet to cardiometabolic risk factors: the Framingham Heart Study. | Lee S et al. | — | 2026 | → |
| Protocol: Estimating cross-ancestry local genetic correlation using Logica. | Gao B et al. | — | 2026 | → |
| Psoriasis risk allele function in activated Th1/17 cells with "memory" to antigen exposure. | Yunusbayev B et al. | — | 2026 | → |
| Rare genetic variants confer a high risk of ADHD and implicate neuronal biology. | Demontis D et al. | — | 2026 | → |
| Rare heterozygous missense variants in VSX2 are associated with retinal detachment. | Brock DC et al. | — | 2026 | → |
| Recent advances in methods to characterize archaic introgression in modern humans. | Peede D et al. | — | 2026 | → |
| Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot. | Kumar S et al. | — | 2026 | → |
| Relevance of polymorphisms in TLR2/4 genes and their association with plasma cytokines for schizophrenia. | Patlola SR et al. | — | 2026 | → |
| Relevance of the c.557A>G variant for the implementation of <i>DPYD</i> pharmacogenetics in populations with Afro-Latin American ancestry. | González de la Cruz C et al. | — | 2026 | → |
| Replication of COPD susceptibility loci in a large Chinese elderly population using a validated, multi-setting EHR phenotype. | Pan H et al. | — | 2026 | → |
| Role of common host genome variants in Childhood Acute Lymphoblastic Leukemia. | Mikkelsen T et al. | — | 2026 | → |
| S4-multi: Enhancing polygenic score prediction in ancestrally diverse populations. | Baierl J et al. | — | 2026 | → |
| scTWAS: a powerful statistical framework for single-cell transcriptome-wide association studies. | Lin Z et al. | — | 2026 | → |
| sedimix: a workflow for the analysis of hominin nuclear DNA sequences from sediments. | Xu J et al. | — | 2026 | → |
| Setd1a Loss-of-function Disrupts Epigenetic Regulation of Ribosomal Genes via Altered DNA Methylation. | Clifton NE et al. | — | 2026 | → |
| Severe COVID-19 Unveils Atypical Familial Hemophagocytic Lymphohistiocytosis due to a Novel Homozygous <i>PRF1</i> Variant. | Vatandoost N et al. | — | 2026 | → |
| Sex-specific interaction effects of Syntaxin 1A coexpression network and childhood trauma on adult depressive symptoms. | Arcego DM et al. | — | 2026 | → |
| Shared genetic architecture and potential comorbid mechanisms between rheumatoid arthritis and idiopathic pulmonary fibrosis. | Yuan M et al. | — | 2026 | → |
| Shared genetic architecture between autism spectrum disorder, loneliness, and social isolation reveals novel genetic loci. | Hope S et al. | — | 2026 | → |
| Shared genetic architecture of psychiatric disorders and ocular diseases: Evidence from genome-wide analyses. | Zhang ZY et al. | — | 2026 | → |
| Shared genetic architecture of psychoactive substance use and pan-cancer: insights from a large‑scale genome‑wide cross‑trait analysis. | Song J et al. | — | 2026 | → |
| Shared Genetic Basis Between Systemic Lupus Erythematosus and Inflammatory Bowel Disease in East Asian Ancestry: A Genome-Wide Cross-trait Analysis. | Mo X et al. | — | 2026 | → |
| Shared genetic structure between COVID-19 and migraine: insights from large-scale genome-wide cross-trait analysis. | Wang X et al. | — | 2026 | → |
| Social determinants of health, behavioral factors, and incident dementia: a prospective cohort study. | Zhang H et al. | — | 2026 | → |
| Specificity, length and luck drive gene rankings in association studies. | Spence JP et al. | — | 2026 | → |
| Strategies in Global Ancestry and Local Ancestry Inference. | Akgun B et al. | — | 2026 | → |
| Sulcal Depth and Genetic Susceptibility Influence Initial Treatment Response in Adults With Attention-Deficit/Hyperactivity Disorder. | Laatsch J et al. | — | 2026 | → |
| SVCROWS: a user-defined tool for interpreting significant structural variants in heterogeneous datasets. | Brown N et al. | — | 2026 | → |
| Systematic analysis of functional genetic and epigenetic variants in colorectal cancer. | Chen E et al. | — | 2026 | → |
| Targeted epigenome sequencing of eosinophils reveals CpG sites and regulatory variants associated with asthma. | Dionne-Gagné R et al. | — | 2026 | → |
| Technical reliability of genotyping SNPs for forensic DNA phenotyping using SNaPshot- and MPS-based assays. | Gosch A et al. | — | 2026 | → |
| Tet2-driven clonal hematopoiesis drives aortic aneurysm via macrophage-to-osteoclast-like differentiation. | Yonekawa J et al. | — | 2026 | → |
| The association between steatotic liver disease and chronic kidney disease: a meta-analysis and Mendelian randomization study highlighting metabolic comorbidities. | Ji X et al. | — | 2026 | → |
| The China Brain Multi-omics Atlas Project (CBMAP). | Zhou D et al. | — | 2026 | → |
| The first population scale compendium of complete mitochondrial genomes from Flanders, Belgium. | Gaens N et al. | — | 2026 | → |
| The genetic basis of dermatophytosis skin infection susceptibility. | Haapaniemi H et al. | — | 2026 | → |
| The Genetic Link Between Primary Immune Thrombocytopenia and Depression/Anxiety Disorders: A Two-Sample Mendelian Randomization Study. | Jiang L et al. | — | 2026 | → |
| The genetic relationships between post-traumatic stress disorder and its corresponding neural circuit structures. | Gong Q et al. | — | 2026 | → |
| The genetics of cannabis lifetime use. | Bright U et al. | — | 2026 | → |
| The Gwangju Alzheimer's & Related Dementias (GARD) cohort: Over a decade of Asia's largest longitudinal multimodal study. | Choi KY et al. | — | 2026 | → |
| The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations. | Jana U et al. | — | 2026 | → |
| The impact of CNV burden on age at onset of schizophrenia. | Muntané G et al. | — | 2026 | → |
| The IPD-IMGT/HLA database: recent developments in sequence submission. | Barker DJ et al. | — | 2026 | → |
| The MICOS Complex Regulates Mitochondrial Structure and Oxidative Stress During Age-Dependent Structural Deficits in the Kidney. | Katti P et al. | — | 2026 | → |
| The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects. | Pittman M et al. | — | 2026 | → |
| The OurHealth Study: A digital genomic cohort for cardiometabolic risk mechanisms in US South Asians. | Ganesh S et al. | — | 2026 | → |
| The persistence and loss of hard selective sweeps amid admixture in ancient Eurasians. | Harris M et al. | — | 2026 | → |
| The proportion of Alzheimer's disease attributable to apolipoprotein E. | Williams DM et al. | — | 2026 | → |
| The R451 site is critical for PTPN18 to exert tumor suppressive effects in breast cancer through the negative regulatory interacting protein fibrillarin. | Zhang N et al. | — | 2026 | → |
| The selective dynamics of interruptions at short tandem repeats. | Goldberg ME et al. | — | 2026 | → |
| The Suggestive Association Between the NOG rs227731 Polymorphism and Non-Syndromic Cleft Lip With or Without Palate Subtypes in a Japanese Cohort. | Anh LK et al. | — | 2026 | → |
| The transaminase-ω-amidase pathway senses oxidative stress to control glutamine metabolism and α-ketoglutarate levels in endothelial cells. | Herrle N et al. | — | 2026 | → |
| Three open questions in polygenic score portability. | Wang JY et al. | — | 2026 | → |
| Trans-ancestry GWAS of hot flashes reveals potent treatment target and overlap with psychiatric disorders. | Werwath KE et al. | — | 2026 | → |
| Transcriptome-wide association study of cardiovascular outcomes in chronic kidney disease: The chronic renal insufficiency cohort. | Lin BM et al. | — | 2026 | → |
| Uncovering pleiotropic loci linking keratoconus and allergic diseases through integrative genomic analyses. | Li G et al. | — | 2026 | → |
| Uncovering polygenic and local genetic overlap between sarcopenia and Alzheimer's disease. | Ding K et al. | — | 2026 | → |
| Unique and shared internalizing and externalizing genetic factors associated with suicidal thoughts and behaviors: Findings from the adolescent brain cognitive development study. | Thomas NS et al. | — | 2026 | → |
| Unraveling the genetic interplay and therapeutic potentials between major depressive disorder and metabolic syndrome: multi-ancestry and multi-trait genome-wide association analyses. | Feng Y et al. | — | 2026 | → |
| Unraveling the mechanisms of nicotine-induced osteoporosis via network toxicology, bioinformatics, and molecular docking. | Xu S et al. | — | 2026 | → |
| Unveiling m7G modification patterns and causal drivers governing intracranial aneurysm rupture risk through multi-omics validation and m7G-MeRIP-seq profiling. | Wu P et al. | — | 2026 | → |
| Using DNA to restore the identity and dignity of Richmond's ancestors: The East Marshall Street Well Project. | Simão F et al. | — | 2026 | → |
| Using multimodal cortical parcellations to identify novel regions of the human cerebral cortex associated with cognitive performance. | Qiu S et al. | — | 2026 | → |
| Value of Multiomics Over Clinical Risk Factors in Hypertension Prediction. | Vuori M et al. | — | 2026 | → |
| Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability. | Kumar A et al. | — | 2026 | → |
| VarXOmics: A Versatile Web Server for Genomic Data Querying, Analysis, and Variant Prioritization With Multi-omics Insights. | Liao X et al. | — | 2026 | → |
| Whole-exome sequencing identifies a CD38 variant in a Chinese family with hodgkin's lymphoma. | Chen X et al. | — | 2026 | → |
| Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia. | Li R et al. | — | 2026 | → |
| Whole genome sequencing data of early- and late-onset colorectal cancer in 99 Korean patients. | Kim JY et al. | — | 2026 | → |
| XhetRel: a pipeline for X heterozygosity and relatedness analysis of sequencing data. | Salman B et al. | — | 2026 | → |
| 131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma. | Saarentaus EC et al. | — | 2025 | → |
| Absolute copy number aware CNV calling of sub-megabase segments in ultra-low coverage single-cell DNA sequencing data. | Kolbeinsdottir S et al. | — | 2025 | → |
| Accelerated Bayesian inference of population size history from recombining sequence data. | Terhorst J | — | 2025 | → |
| Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce. | Labory J et al. | — | 2025 | → |
| Accurate short-read alignment through <i>r</i>-index-based pangenome indexing. | Varki R et al. | — | 2025 | → |
| Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic. | Park J et al. | — | 2025 | → |
| Achieving inclusive healthcare through integrating education and research with AI and personalized curricula. | Bahmani A et al. | — | 2025 | → |
| A contextual genomic perspective on physical activity and its relationship to health, well being and illness. | Galimberti M et al. | — | 2025 | → |
| A curated dataset of great ape genome diversity. | Han S et al. | — | 2025 | → |
| Adaptations to water stress and pastoralism in the Turkana of northwest Kenya. | Lea AJ et al. | — | 2025 | → |
| Addressing Ancestral Underrepresentation in Oncobiology: The Need for Sub-Saharan African-Specific In Vitro Models. | Dos Santos CS et al. | — | 2025 | → |
| Adjustment for Genotype Imputation Uncertainty Corrects for Inflated Type I Error in Family-Based Association Testing. | Day TRC et al. | — | 2025 | → |
| Admixture Mapping of Lipid Traits in Hispanic Americans. | Ding K et al. | — | 2025 | → |
| A draft UAE-based Arab pangenome reference. | Nassir N et al. | — | 2025 | → |
| African-ancestry-specific variant IKKβ p.Glu502Lys confers high lupus risk. | Thorlacius GE et al. | — | 2025 | → |
| A genetic variant in the 3'-UTR of PIWIL4 confers risk for extreme phenotypes of male infertility by altering miR-215 and miR-136 binding affinity. | González-Muñoz S et al. | — | 2025 | → |
| A genome-wide association study for lifetime estrogen exposure identifies novel loci and polygenic signals in East Asian postmenopausal women. | Yuk M et al. | — | 2025 | → |
| A genome-wide association study identifies Asian-specific genetic susceptibility for epigenetic age acceleration. | Oh K et al. | — | 2025 | → |
| A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS. | Nakamura R et al. | — | 2025 | → |
| A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins. | Sharapov S et al. | — | 2025 | → |
| A genome-wide association study of buccal mucosa cancer in India and multi-ancestry meta-analysis discovers risk loci and gene-environment interactions. | Mhatre S et al. | — | 2025 | → |
| A Genome-Wide Association Study of Circulating Serum Choline, Betaine, Dimethylglycine, and Their Ratios. | Louck LE et al. | — | 2025 | → |
| A graph-based approach to variant description extraction from sequences. | Santcroos MA et al. | — | 2025 | → |
| A Historical Perspective on Approaches to Understanding the Genetics of Systemic Lupus Erythematosus. | Bridges SL et al. | — | 2025 | → |
| Airway transcriptome networks for ozone and PM<sub>2.5</sub> exposure reveal distinct key drivers for children with asthma. | Chun Y et al. | — | 2025 | → |
| Altered DNA methylation of the ABO gene is associated with differential plasma levels of von willebrand factor and E-selectin. | Lou T et al. | — | 2025 | → |
| Alzheimer's disease transcriptional landscape in ex vivo human microglia. | Kosoy R et al. | — | 2025 | → |
| A machine learning framework for classifying dementia risk in mild cognitive impairment: evidence from a Korean genome-wide association study cohort. | Cho M et al. | — | 2025 | → |
| A Mendelian randomization study of type 2 diabetes and cancer risk in East Asians. | Li L et al. | — | 2025 | → |
| A mouse organoid platform for modeling cerebral cortex development and cis-regulatory evolution in vitro. | Medina-Cano D et al. | — | 2025 | → |
| Analysis of Selective Pressure on Ancient Human Mitochondrial Genomes Reveals the Presence of Widespread Sequencing Artefacts. | Fernandes P et al. | — | 2025 | → |
| An Analytic Pipeline to Obtain Reliable Genetic Ancestry Estimates from Tumor-Derived RNA Sequencing Data. | Johnson CE et al. | — | 2025 | → |
| An Atlas of Genetic Correlations Between Thyroid Hormone Levels and Human Health-Related Traits. | Li JL et al. | — | 2025 | → |
| Ancestral genomic functional differences in oligodendroglia: implications for Alzheimer's disease. | Ramirez AM et al. | — | 2025 | → |
| AncestryGeni: a novel genetic ancestry classification pipeline for small and noisy sequence data. | Elhaik E et al. | — | 2025 | → |
| Ancient genomes provide evidence of demographic shift to Slavic-associated groups in Moravia. | Schulz I et al. | — | 2025 | → |
| Ancient trans-species polymorphism at the Major Histocompatibility Complex in primates. | Fortier AL et al. | — | 2025 | → |
| An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits. | Howerton EM et al. | — | 2025 | → |
| Angiogenesis gene signatures in patient-derived tumor spheroids for genetic and tumor angiogenesis profiling. | Hyung S et al. | — | 2025 | → |
| An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. | Du H et al. | — | 2025 | → |
| An Integrative Polygenic and Epigenetic Risk Score for Overweight-related Hypertension in Chinese Population. | Zhang 张亚宁 Y et al. | — | 2025 | → |
| A novel approach to resilience and its links with education and Alzheimer's disease genetics. | Carrigan M et al. | — | 2025 | → |
| A Novel Frameshift Variant in the SPAST Gene Causing Hereditary Spastic Paraplegia in a Bulgarian-Turkish Family. | Levkova M et al. | — | 2025 | → |
| A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects. | Liu C et al. | — | 2025 | → |
| A novel <i>APOL1</i> membrane-addressing domain mutation (<i>p.T272I</i>) in Chinese twins with FSGS: implications for podocyte injury and ion channel disruption. | Peng T et al. | — | 2025 | → |
| A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome. | Siavrienė E et al. | — | 2025 | → |
| An updated Pig Haplotype Reference Panel (PHARP 4.0) comprising 13,298 haplotypes. | Wang Q et al. | — | 2025 | → |
| A pancreatic cancer organoid biobank links multi-omics signatures to therapeutic response and clinical evaluation of statin combination therapy. | Li Y et al. | — | 2025 | → |
| Apolipoprotein L1 (APOL1): Consideration of Molecular Evolution, Interaction with APOL3, and Impact of Splice Isoforms Advances Understanding of Cellular and Molecular Mechanisms of Cell Injury. | Khalaila R et al. | — | 2025 | → |
| Apparent differences between human and chimp proteomes are reduced when considering human population: Human specific variants are enriched in disordered and compositionally biased regions. | Mier P et al. | — | 2025 | → |
| Application of Mendelian Randomization Analysis on the Exploration of the Association Between Immune Cell Phenotypes and Alzheimer's disease. | Guo J et al. | — | 2025 | → |
| ApplyPolygenicScore: An R package for applying polygenic risk score models. | Zeltser N et al. | — | 2025 | → |
| Appraisal of multiple polygenic risk scores to estimate the risk of myocardial infarction and coronary artery lesions. | Manikpurage HD et al. | — | 2025 | → |
| A privacy-preserving HLA imputation method with homomorphic encryption. | Kim H et al. | — | 2025 | → |
| A rapid accurate approach to inferring pedigrees in endogamous populations. | Williams CM et al. | — | 2025 | → |
| Archaeogenetics reveals fine-scale genetic continuity and patterns of kinship and health in medieval Finland. | Nordfors U et al. | — | 2025 | → |
| Artificial intelligence coupled to pharmacometrics modelling to tailor malaria and tuberculosis treatment in Africa. | Turon G et al. | — | 2025 | → |
| Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions. | Heo JY et al. | — | 2025 | → |
| Assessing the suitability of formalin-fixed paraffin-embedded (FFPE) tissue for genome-wide association studies (GWAS). | Reingruber J et al. | — | 2025 | → |
| Assessment of genetic and metabolite associations of branched chain amino acids with metabolic disease in the UK Biobank using Mendelian randomization. | Konarkowski J et al. | — | 2025 | → |
| Association between ancestry and tumor somatic mutations in a large national cohort of women with breast cancer. | Fergus KB et al. | — | 2025 | → |
| Association Between Chronic Kidney Disease and Glaucoma: Results From the Lifelines Cohort Study and UK Biobank. | Liu W et al. | — | 2025 | → |
| Association Between Dietary Tomato Intake and Blood Eosinophil Count in Middle-Aged and Older Japanese Individuals: A Population-Based Cross-Sectional Study. | Hara A et al. | — | 2025 | → |
| Association between frailty and gout in middle-aged and older adults: A nationwide cross-sectional and Mendelian randomization study. | Sun Y et al. | — | 2025 | → |
| Association between high polygenic risk scores and long-term exposure to air pollution in asthma development: a hospital-based case-control study. | Chen IC et al. | — | 2025 | → |
| Association between specific neuroticism symptoms and cardiovascular disease: insights from genetic analysis. | Zhang H et al. | — | 2025 | → |
| Association of Hypertension With Telomere Length, Considering Non-Genetic and Genetic Factors, in Middle-Aged Koreans. | Baek Y et al. | — | 2025 | → |
| Association of IL-13 Gene Polymorphism (rs20541) With Chronic Inflammatory Diseases: A Systematic Review and Meta-Analysis. | Letchumanan G et al. | — | 2025 | → |
| Association of Immune Cells, Inflammatory Cytokines, and Lung Cancer: A Mediating Mendelian Randomization Study. | Li L et al. | — | 2025 | → |
| Association of infection with Toxoplasma gondii and arthritis: Insights from a cross-sectional study and genetic epidemiology analysis. | Zhu D et al. | — | 2025 | → |
| Association of long non-coding RNA HOTAIR polymorphisms with colorectal cancer: a meta-analysis. | Wang K et al. | — | 2025 | → |
| Association of <i>VAX1, MAFB, WNT3</i> with Non-Syndromic Cleft Lip with or without Cleft Palate in a Japanese Population. | Thao TP et al. | — | 2025 | → |
| Associations between 1400 metabolites and subtypes of endometriosis: a two-sample Mendelian randomisation study. | Yan F et al. | — | 2025 | → |
| Associations Between Dietary Iron, SNP rs2794720, and Metabolic Syndrome Risk in Chinese Males and Females: A Community-Based Study in a Chinese Metropolis. | Hu Z et al. | — | 2025 | → |
| Associations of ANKK1 (rs1800497) polymorphism with glucose and lipid metabolism in patients with schizophrenia treated with olanzapine: a retrospective study. | Gao W et al. | — | 2025 | → |
| Associations of Cruciferous Vegetable Intake with Breast Cancer Survival in a Diverse Population in the Pathways Study. | Tang L et al. | — | 2025 | → |
| Associations of Herpes Simplex Virus Type 1/2 IgG Seropositivity and Arthritis Subtypes: Integrating Cross-Sectional Epidemiology and Genetic Association Analyses. | Li H et al. | — | 2025 | → |
| Associations of Longitudinal Changes in Blood Biomarkers of Dementia With the Proportion of Genetically Inferred African Ancestry. | Wang L et al. | — | 2025 | → |
| A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours. | Das K et al. | — | 2025 | → |
| Automating ACMG variant classifications with BIAS-2015 v2.1.1: algorithm analysis and benchmark against the FDA-approved eRepo dataset. | Eisenhart C et al. | — | 2025 | → |
| Benchmarking of computational demultiplexing methods for single-nucleus RNA sequencing data. | Fu Y et al. | — | 2025 | → |
| Benchmarking of human read removal strategies for viral and microbial metagenomics. | Forbes M et al. | — | 2025 | → |
| Bidirectional genetic overlap between psychiatric disorders and high-density lipoprotein cholesterol levels. | Li X et al. | — | 2025 | → |
| Bioinformatic and genomic analysis identifies C allele of APOE rs7412 as the most prominent variant limiting extreme human longevity. | Satria RD et al. | — | 2025 | → |
| Bioinformatic insights into five Chinese population substructures inferred from the East Asian-specific AISNP panel. | Chen J et al. | — | 2025 | → |
| Blastocyst segmental aneuploidy breakpoints are highly correlated with human genome fragile sites. | de Quadros E et al. | — | 2025 | → |
| Blood-based DNA methylation profiles in major depressive disorder, bipolar disorder, and schizophrenia spectrum disorders. | David FS et al. | — | 2025 | → |
| b-move: faster lossless approximate pattern matching in a run-length compressed index. | Depuydt L et al. | — | 2025 | → |
| BTS: a scalable Bayesian Tissue Score for prioritizing GWAS variants and their functional contexts across >1000s of omics datasets. | Kuksa PP et al. | — | 2025 | → |
| Building Sub-Saharan African PBPK Populations Reveals Critical Data Gaps: A Case Study on Aflatoxin B1. | Lootens O et al. | — | 2025 | → |
| Calculating genetic risk scores directly from summary statistics with an application to type 1 diabetes. | Squires S et al. | — | 2025 | → |
| Calibrating genome wide significance by minor allele frequency across three major populations. | Vejandla SC et al. | — | 2025 | → |
| Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the <i>SPTB</i> gene that causes hereditary spherocytosis with hemolytic anemia. | Cao K et al. | — | 2025 | → |
| Causal association between dietary factors and Primary Biliary Cholangitis: A Mendelian randomization study. | Luo H et al. | — | 2025 | → |
| Causal association between inflammatory cytokines and osteonecrosis: A bidirectional 2-sample Mendelian randomization study. | You W et al. | — | 2025 | → |
| Causal association of metabolic biomarkers and the risk of esophageal cancer: A 2-sample Mendelian randomization study. | Ziyang L et al. | — | 2025 | → |
| Causal Associations Between Immune Cell Phenotypes and Oral Lichen Planus: A Large-Scale Mendelian Randomization Study. | Meng Z et al. | — | 2025 | → |
| Causal associations between psoriasis and atopic dermatitis: A bidirectional Mendelian randomization study. | Wang Z et al. | — | 2025 | → |
| Causal effects and metabolite mediation of immune cells in preterm birth: a Mendelian randomization study. | Zhou T et al. | — | 2025 | → |
| Causality of breastfed as a baby and cardiovascular disease and the mediating effect of high-density lipoprotein: A Mendelian randomization study. | Li Q et al. | — | 2025 | → |
| Causal relationship between gut microbiota and pneumonia: a Mendelian randomization and retrospective case-control study. | Huang P et al. | — | 2025 | → |
| Causal relationships between plasma proteins and Alzheimer's disease using bidirectional Mendelian randomization. | Li Y et al. | — | 2025 | → |
| Causal Relationships Between the Oral Microbiome and Autoimmune Diseases: A Mendelian Randomization Study. | Wu X et al. | — | 2025 | → |
| Causal role of 731 immune cell types in atrial fibrillation: A bidirectional two-sample Mendelian randomization study. | Huang L et al. | — | 2025 | → |
| Causal role of immunophenotypes in HIV-1 acquisition: insights from Mendelian randomization analysis. | Li N et al. | — | 2025 | → |
| CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants. | Paul SK et al. | — | 2025 | → |
| Cell-free DNA as a potential alternative to genomic DNA in genetic studies. | Zeng J et al. | — | 2025 | → |
| CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies. | Khan K et al. | — | 2025 | → |
| Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers. | Freeman K et al. | — | 2025 | → |
| Chromatin accessibility variation provides insights into missing regulation underlying immune-mediated diseases. | Jeong R et al. | — | 2025 | → |
| Chromosome-specific epigenetic control and transmission of ribosomal DNA arrays in Hominidae genomes. | Potapova TA et al. | — | 2025 | → |
| Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients. | Fateen E et al. | — | 2025 | → |
| Clinical, laboratory and genetic factors associated with smoking in a Brazilian Sickle Cell Disease (SCD) cohort. | Cruz T et al. | — | 2025 | → |
| Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial. | Reimers R et al. | — | 2025 | → |
| Clonal hematopoiesis is associated with reduced response to atezolizumab in non-small cell lung cancer. | Chat V et al. | — | 2025 | → |
| Coffee intake, genetic variants, and chronic kidney disease: a cross-sectional analysis of the Japan Multi-Institutional Collaborative Cohort (J-MICC) study. | Unohara T et al. | — | 2025 | → |
| Cohort profile update: the Korean Cancer Prevention Study-II (KCPS-II) biobank. | Kimm H et al. | — | 2025 | → |
| Colorectal Air-Liquid Interface Organoids Preserve Tumour-Immune Architecture and Reveal Local Treg Expansion After PD-1 Blockade. | Córdoba L et al. | — | 2025 | → |
| Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction. | Xiong Z et al. | — | 2025 | → |
| Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution. | Baya NA et al. | — | 2025 | → |
| Combining Mendelian randomization and network toxicology to decipher the causal role and molecular mechanisms of environmental pollutants in breast cancer: A focus on Methyl-4-hydroxybenzoate. | Yang Y et al. | — | 2025 | → |
| Combining whole genome sequencing and non-adaptive group testing for large-scale ethnicity screens. | Avraham E et al. | — | 2025 | → |
| Common DNA sequence variation influences epigenetic aging in African populations. | Meeks GL et al. | — | 2025 | → |
| Comparative assessment of SNP genotyping assays for challenging forensic samples utilizing ancient DNA methods. | Staadig A et al. | — | 2025 | → |
| Comparison of associations suggests mainly distinct pools of genetic risk factors contribute to cisplatin-induced hearing loss and hearing difficulty in the general population. | Shahbazi M et al. | — | 2025 | → |
| Comparison of IL-10 gene promoter polymorphisms and haplotypes between high-grade squamous intraepithelial lesions or cervical cancer and negative cervical cytology. | de Souza ATB et al. | — | 2025 | → |
| Complex genetic variation in nearly complete human genomes. | Logsdon GA et al. | — | 2025 | → |
| Comprehensive analysis of the mitochondrial DNA variants using multivariate covariate and multiple-testing models to enhance reliability reveals potential associations with coronary artery disease traits and dietary preferences. | Sawant A et al. | — | 2025 | → |
| Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort. | Demir Ş et al. | — | 2025 | → |
| Comprehensive Genome-Wide Analysis of Shared Genetic Factors in Gastrointestinal and Neurodegenerative Diseases. | Jiang Y et al. | — | 2025 | → |
| Computational methods and data resources for predicting tumor neoantigens. | Zhao X et al. | — | 2025 | → |
| Consistency and central limit results for the maximum likelihood estimator in the Admixture Model. | Heinzel CS | — | 2025 | → |
| Constant Temperature Electrochemical Biosensor for SNP Detection in Human Genomic DNA Based on DNA Melting Analysis. | Serapinas S et al. | — | 2025 | → |
| Constructing the cure: engineering the next wave of antibody and cellular immune therapies. | Bailey SR et al. | — | 2025 | → |
| Correcting for Genomic Inflation Leads to Loss of Power in Large-Scale Genome-Wide Association Study Meta-Analysis. | Singh A et al. | — | 2025 | → |
| Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population. | Maver A et al. | — | 2025 | → |
| Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites. | Ebrahimi E et al. | — | 2025 | → |
| Cross-ethnic Molecular Signatures Underpin the Adverse Impact of Statin Use on Type 2 Diabetes. | Xu F et al. | — | 2025 | → |
| Cross-Population Analysis of Sjögren's Syndrome Polygenic Risk Scores and Disease Prevalence: A Pilot Study. | Ferrara E et al. | — | 2025 | → |
| Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data. | Bhattacharjee E et al. | — | 2025 | → |
| Deciphering the immunometabolic axis: a mendelian randomization study of a causal cascade network from immune cell phenotypes to metabolites in esophageal cancer. | Gui D et al. | — | 2025 | → |
| Deciphering the shared genetic structure between hip osteoarthritis and femoral neck bone mineral density. | Zhou J et al. | — | 2025 | → |
| DeepKin: Predicting Relatedness From Low-Coverage Genomes and Palaeogenomes With Convolutional Neural Networks. | Güler MN et al. | — | 2025 | → |
| Deep learning approaches for resolving genomic discrepancies in cancer: a systematic review and clinical perspective. | Zubair M et al. | — | 2025 | → |
| Depression, ovarian cysts and infertility in women: A mediated Mendelian randomization analysis. | Yuan D et al. | — | 2025 | → |
| Depression Polygenicity and Disease Activity and Disability Worsening in Multiple Sclerosis. | Manouchehrinia A et al. | — | 2025 | → |
| Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test. | Gao C et al. | — | 2025 | → |
| Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair. | McDaniel JH et al. | — | 2025 | → |
| Dietary patterns and risk of ischemic stroke: A two-sample Mendelian randomization study. | Guo J et al. | — | 2025 | → |
| Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study. | Xiao H et al. | — | 2025 | → |
| diPaRIS: Dynamic and Interpretable Protein-RNA Interactions Prediction With U-Shaped Network and Novel Structure Encoding. | Zhang L et al. | — | 2025 | → |
| Discovery of obesity genes through cross-ancestry analysis. | Banerjee D et al. | — | 2025 | → |
| Discriminating activating, deactivating and resistance variants in protein kinases. | Singh G et al. | — | 2025 | → |
| Disentangling associations between complex traits and cell types with seismic. | Lai Q et al. | — | 2025 | → |
| Dissecting causal relationships between immune cells, blood metabolites, and diabetic nephropathy. | Zheng S et al. | — | 2025 | → |
| Dissecting the genetic architecture of circadian rhythms in human tissues using a quantitative circadian deviation score. | Li Z et al. | — | 2025 | → |
| Dissecting the role of plasma and urinary metabolites in bone mineral density: Evidence from a bidirectional univariable Mendelian randomization study. | Xie T et al. | — | 2025 | → |
| Distinct Co-methylation Patterns in African and European Populations and Their Genetic Associations. | Dong Z et al. | — | 2025 | → |
| Distinct glial functions are associated with Alzheimer's disease based on cell-type- and pathway-specific polygenic risk score analysis. | Pratt T et al. | — | 2025 | → |
| Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption. | Franco ALMM et al. | — | 2025 | → |
| DNA methylation of food sensitization in a French-Canadian population. | Tremblay BL et al. | — | 2025 | → |
| DTC-Flow: a flow cytometry-based detection platform for characterizing bone marrow disseminated tumor cells in breast cancer. | Chislock EM et al. | — | 2025 | → |
| Dynamic human admixture histories over the past ~1300 years at the northern Himalayan frontier. | Bandyopadhyay E et al. | — | 2025 | → |
| Early lymph node T follicular helper cell signalling hub drives influenza vaccine response in an ancestrally diverse cohort. | Siu JHY et al. | — | 2025 | → |
| Early Vascular Aging Determined by 3-Dimensional Aortic Geometry: Genetic Determinants and Clinical Consequences. | Beeche C et al. | — | 2025 | → |
| Education as a Modifier of Genetic Influence on Cognitive Ability in Older Adults. | Hsu YC et al. | — | 2025 | → |
| Effect of polygenic scores on the relationship between psychosis and cognition. | Varney L et al. | — | 2025 | → |
| Efficient and Scalable Alignment-Free Distributed Genotyping of SNPs and Short Indels. | Rocco LD et al. | — | 2025 | → |
| Elevational and oceanic barriers shape the distribution, dispersal, and diversity of Aotearoa's Kapokapowai (Uropetala) dragonflies. | Tolman ER et al. | — | 2025 | → |
| ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy. | Dore R et al. | — | 2025 | → |
| Endogenous fine-mapping and prioritization of functional regulatory elements in complex genetic loci. | Zhao K et al. | — | 2025 | → |
| Ensemblex: an accuracy-weighted ensemble genetic demultiplexing framework for population-scale scRNAseq sample pooling. | Fiorini MR et al. | — | 2025 | → |
| EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis. | Wang L et al. | — | 2025 | → |
| Epigenome-wide association study of placental co-methylated regions in newborns for prenatal opioid exposure. | Meijer M et al. | — | 2025 | → |
| Epigenome-wide DNA methylation profiling reveals risk genes for migraine and its subtypes. | Liu M et al. | — | 2025 | → |
| Epilepsy and migraine: A bidirectional mendelian randomization study. | Chen F et al. | — | 2025 | → |
| Estimating allele frequencies, ancestry proportions and genotype likelihoods in the presence of mapping bias. | Günther T et al. | — | 2025 | → |
| Estimating disorder probability based on polygenic prediction using the BPC approach. | Uffelmann E et al. | — | 2025 | → |
| European and African ancestry-specific plasma protein-QTL and metabolite-QTL analyses identify ancestry-specific T2D effector proteins and metabolites. | Yang C et al. | — | 2025 | → |
| European-based polygenic risk score and genome-wide association study of B-cell non-Hodgkin lymphoma subtypes in Israeli Jews and Palestinian Arabs. | Kleinstern G et al. | — | 2025 | → |
| Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications. | Dias JA et al. | — | 2025 | → |
| Evaluating the representational power of pre-trained DNA language models for regulatory genomics. | Tang Z et al. | — | 2025 | → |
| Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews. | Freeman K et al. | — | 2025 | → |
| Evaluation of a bidirectional causal association between cardiovascular diseases and pneumonia: a Mendelian randomization study. | Zhang Y et al. | — | 2025 | → |
| Evolution in neuropsychiatric cis-regulatory enhancers through human-specific neuronal mutations within transcription factor binding sites. | Raza RZ et al. | — | 2025 | → |
| Evolution of Dosage-Sensitive Genes by Tissue-Restricted Expression Changes. | Rice AM et al. | — | 2025 | → |
| Exploring depression treatment response by using polygenic risk scoring across diverse populations. | Lapinska S et al. | — | 2025 | → |
| Exploring Genetic Markers for Cold-Heat Patterns: Integrating Traditional Medicine With Modern Genomic Research. | Jeong S et al. | — | 2025 | → |
| Exploring potential mechanisms of an African protective locus for Alzheimer's disease in APOEε4 carriers. | Bertholim-Nasciben L et al. | — | 2025 | → |
| Exploring Similarities and Differences Between Methods That Exploit Patterns of Local Genetic Correlation to Identify Shared Causal Loci Through Application to Genome-Wide Association Studies of Multiple Long Term Conditions. | Darlay R et al. | — | 2025 | → |
| Exploring the causal relationship and molecular mechanisms between Methyl-4-hydroxybenzoic acid (MEP) and Alzheimer's disease: a mendelian randomization, multi-omics, and network toxicology approach. | Gong H et al. | — | 2025 | → |
| Exploring the genetic determinants of the oral microbiome's role in gastrointestinal cancer risk: Mendelian randomization and genetic correlation analysis in an East Asian population. | Jin W et al. | — | 2025 | → |
| Exploring therapeutic targets for hepatocellular carcinoma through druggable genes. | Tang C et al. | — | 2025 | → |
| Exploring the shared genetic architecture between leukocyte telomere length and renal cell carcinoma: a cross-trait analysis. | Wang L et al. | — | 2025 | → |
| Familial Hypercholesterolemia: Prevalence and Discrepancy between Genotype and Phenotype. Findings of the Population-based Hamburg City Health Study. | Riccio C et al. | — | 2025 | → |
| Female lineages and changing kinship patterns in Neolithic Çatalhöyük. | Yüncü E et al. | — | 2025 | → |
| FemXpress: Systematic Analysis of X Chromosome Inactivation Heterogeneity in Female Single-Cell RNA-Seq Samples. | Wang X et al. | — | 2025 | → |
| FINEMAP-miss: fine-mapping genome-wide association studies with missing genotype information. | Kartau J et al. | — | 2025 | → |
| Fine-mapping genomic loci refines bipolar disorder risk genes. | Koromina M et al. | — | 2025 | → |
| Fine-scale regional frequency of the <i>MUC5B</i> promoter variant correlates with healthcare burden of idiopathic pulmonary fibrosis. | Gilbert E et al. | — | 2025 | → |
| Fluorescence-Based Detection of <i>KRAS</i> Mutations in Genomic DNA Using Magnetic Bead-Coupled LDR Assay. | Morimoto C et al. | — | 2025 | → |
| Forensic application research of kinship identification disclosed by genetic polymorphisms of 150 loci in three panels. | Xu H et al. | — | 2025 | → |
| Fostering diversity in global genomics: a South Asian perspective. | Bhattacharyya C et al. | — | 2025 | → |
| Framework for analyzing MAE-derived immunopeptidomes from cell lines with shared HLA haplotypes. | Chan QWT et al. | — | 2025 | → |
| Frequency of Polymorphisms in <i>SLC47A1</i> (rs2252281 and rs2289669) and <i>SLC47A2</i> (rs34834489 and rs12943590) and the Influence of <i>SLC22A1</i> (rs72552763 and rs622342) on HbA1c Levels in Mexican-Mestizo Patients with DMT2 Treated with Metformin Monotherapy. | Gómez-Hernández MA et al. | — | 2025 | → |
| From trigeminal ganglion to cortex: ATG7 emerges as a key integrator of migraine pathways via multi-omics profiling. | Zhang C et al. | — | 2025 | → |
| Full-length gene polymorphism of the non-classical HLA-E in Estonian individuals. | Olieslagers TI et al. | — | 2025 | → |
| Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits. | Barbitoff YA et al. | — | 2025 | → |
| Gain of Alternative Allele Expression of LINC02449 at rs149707223 in Schizophrenia and Bipolar Disorder: Inducing Synaptic Transmission and Behavioral Deficits in Mice. | Yang T et al. | — | 2025 | → |
| GCRP: Integrated Global Chicken Reference Panel from 11,951 Chicken Genomes. | Zhu D et al. | — | 2025 | → |
| GDBIG: A Pioneering Birth Cohort Genomic Platform Facilitating Intergenerational Genetic Research. | Huang S et al. | — | 2025 | → |
| geneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders. | Zhang J et al. | — | 2025 | → |
| Generating realistic artificial human genomes using adversarial autoencoders. | Burnard C et al. | — | 2025 | → |
| Generating synthetic genotypes using diffusion models. | Kenneweg P et al. | — | 2025 | → |
| Gene regulatory activity associated with polycystic ovary syndrome revealed DENND1A-dependent testosterone production. | Sankaranarayanan L et al. | — | 2025 | → |
| Gene-Sex Interaction in Non-Syndromic Orofacial Cleft Subtypes: A Case-Control Study Among the Vietnamese Population. | Anh LK et al. | — | 2025 | → |
| Gene Therapy for Inherited Retinal Disease: Current Strategies, Personalized Medicine, and Future Implications-A Comprehensive Review. | Butt FR et al. | — | 2025 | → |
| Genetically modeled GLP1R and GIPR agonism reduce binge drinking and alcohol-associated phenotypes: a multi-ancestry drug-target Mendelian randomization study. | Reitz J et al. | — | 2025 | → |
| Genetic alterations and aberrant hormonal pathways in thymic epithelial tumors. | Zhang Y et al. | — | 2025 | → |
| Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases. | Jordà P et al. | — | 2025 | → |
| Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility. | Betti MJ et al. | — | 2025 | → |
| Genetic Ancestry, Intrinsic Tumor Subtypes, and Breast Cancer Survival in Latin American Women. | Alves da Quinta D et al. | — | 2025 | → |
| Genetic ancestry shapes dengue virus infection in human skin explants. | Castanha PMS et al. | — | 2025 | → |
| Genetic and Epigenetic Approaches to Opioid Use Disorder. | Ranadeva ND et al. | — | 2025 | → |
| Genetic and molecular landscape of comorbidities in people living with HIV. | Botey-Bataller J et al. | — | 2025 | → |
| Genetic architecture and mechanisms shared between kidney and ureteral stones, cardiovascular diseases, and metabolic syndrome: A comprehensive GWAS analysis. | Hua Y et al. | — | 2025 | → |
| Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry. | Wang J et al. | — | 2025 | → |
| Genetic association analyses of cognitive performance across multi-ancestry older adults: Application of Tobit models. | Wu X et al. | — | 2025 | → |
| Genetic Association of Lipids and Lipid-Lowering Drug Target Genes With Atopic Dermatitis: A Drug Target Mendelian Randomization Study. | Luo M et al. | — | 2025 | → |
| Genetic associations of cholelithiasis and biliary tract cancer. | Jiang Y et al. | — | 2025 | → |
| Genetic atlas of plasma metabolome across 40 human common diseases: mapping causal metabolites to disease risk. | Li Y et al. | — | 2025 | → |
| Genetic Complexity in Spondyloarthritis: Contributions of HLA-B Alleles Beyond HLA-B*27 in Romanian Patients. | Nagit RE et al. | — | 2025 | → |
| Genetic contributions to epigenetic-defined endotypes of allergic phenotypes in children. | Thompson EE 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 determinants and genomic consequences of non-leukemogenic somatic point mutations. | Weinstock JS et al. | — | 2025 | → |
| Genetic disease risks of under-represented founder populations in New York City. | Isshiki M et al. | — | 2025 | → |
| Genetic effects on chromatin accessibility uncover mechanisms of liver gene regulation and quantitative traits. | Currin KW et al. | — | 2025 | → |
| Genetic effects on migration behavior contribute to increasing spatial differentiation at trait-associated loci in Estonia. | Kuznetsov IA et al. | — | 2025 | → |
| Genetic/epigenetic DNA markers for linking suspects and tissues in complex crime scenes. | Mizrachi R et al. | — | 2025 | → |
| Genetic evidence from Mendelian randomization strengthens the causality between oral microbiome and chronic obstructive pulmonary disease. | Zhou X et al. | — | 2025 | → |
| Genetic history of Scythia. | Andreeva TV et al. | — | 2025 | → |
| Genetic insights into SGLT2 inhibition and atrial fibrillation: exploring the mediating role of inflammatory proteins. | Yi C et al. | — | 2025 | → |
| Genetic Liabilities to Neuropsychiatric Conditions in Suicide Deaths With No Prior Suicidality. | Coon H et al. | — | 2025 | → |
| Genetic markers for knee osteoarthritis presence are not associated with disease progression - data from the IMI-APPROACH cohort. | Bentvelzen MLM et al. | — | 2025 | → |
| Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits. | Ghatan S et al. | — | 2025 | → |
| Genetic pleiotropy underlying obesity and autoimmune disorders: a large-scale cross-trait gwas analysis in European ancestry populations. | Jiang X et al. | — | 2025 | → |
| Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit. | Stinson SE et al. | — | 2025 | → |
| Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis. | Pukaj A et al. | — | 2025 | → |
| Genetics and context for precision health in Greater Boston. | Koyama S et al. | — | 2025 | → |
| Genetics-nutrition interactions control diurnal enhancer-promoter dynamics and liver lipid metabolism. | Zhou D et al. | — | 2025 | → |
| Genetic subtyping of obesity reveals biological insights into the uncoupling of adiposity from its cardiometabolic comorbidities. | Chami N et al. | — | 2025 | → |
| Genetic Susceptibility to Periodontitis. | Richter GM et al. | — | 2025 | → |
| Genetic underpinnings and causal effects of brain structure and function on chronic pain intensity. | Wang X et al. | — | 2025 | → |
| Genetic underpinnings of the heterogeneous impact of obesity on lipid levels and cardiovascular disease. | Kim D et al. | — | 2025 | → |
| Genetic Variability in Child Growth Among South American Populations: A Perspective Integrating Population Genetics, Growth Standards, and Precision Growth Medicine. | Zambrano AK et al. | — | 2025 | → |
| Genetic variants associated with chronic postsurgical pain: evidence from the China Surgery and Anaesthesia Cohort study. | Song J et al. | — | 2025 | → |
| Genetic Variants Associated With Congenital Heart Disease: A Meta-Analysis of Ethnicity and Subtype-Specific Susceptibility. | Chon HS et al. | — | 2025 | → |
| Genetic Variants Associated With the Biochemical Response to Vitamin D3 in the Multi-Ethnic Study of Atherosclerosis. | Best CM et al. | — | 2025 | → |
| Genetic variants in the CD59 gene: An exploratory study of large genome databases. | Srivastava K et al. | — | 2025 | → |
| Genetic variants in the vitamin D pathway genes are predictors of the risk of diabetic kidney disease in Central Asian Kazakhstani cohort with type 2 diabetes. | Taurbekova B et al. | — | 2025 | → |
| Genetic variation at PPM1H predicts mobilization efficiency in stem cell donors. | La YP et al. | — | 2025 | → |
| Genetic Variation in Hydrochlorothiazide Response-Related Genes Among Hypertensive Individuals in Soweto, South Africa. | Nyamupangedengu K et al. | — | 2025 | → |
| Genome- and Exome-Wide Identification of Common-to-Rare Variants Associated with Middle Ear Cholesteatoma. | Qiu K et al. | — | 2025 | → |
| Genome- and transcriptome-wide association meta-analysis reveals new insights into genes affecting coronary and peripheral artery disease. | Rode M et al. | — | 2025 | → |
| Genome sequence of a marine threespine stickleback (Gasterosteus aculeatus) from Rabbit Slough in the Cook Inlet. | Au EH et al. | — | 2025 | → |
| Genome-wide analysis in human populations reveals mitonuclear disequilibrium in genes related to neurological function. | González-Orozco E et al. | — | 2025 | → |
| Genome-wide association for sarcoidosis identifies novel risk loci and genetic heritability in African and European ancestries: a meta-analysis from the Finngen, Million Veteran Program, UK Biobank, and Biobank Japan datasets. | Ricci A et al. | — | 2025 | → |
| Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants. | Förster F et al. | — | 2025 | → |
| Genome-wide association studies of Alzheimer's disease and related disorders stratified by sex, onset age, and Apolipoprotein E genotype reveal novel risk loci in African Americans. | Sherva R et al. | — | 2025 | → |
| Genome-Wide Association Studies of Delay Discounting and Impulsive Personality Traits in Children From the Adolescent Behavior and Cognitive Development Study. | Deng WQ et al. | — | 2025 | → |
| Genome-wide association study and HLA genotyping for beryllium disease susceptibility in a European descent population. | Liao SY et al. | — | 2025 | → |
| Genome-wide association study identifies FUT2 rs601338 polymorphism linking intra-pancreatic fat deposition to chronic pancreatitis. | Chen H et al. | — | 2025 | → |
| Genome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction. | Imtiaz MA et al. | — | 2025 | → |
| Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer. | Barnes DR et al. | — | 2025 | → |
| Genomewide association study of a homogeneous multiple sclerosis cohort: Tumefactive demyelination. | Zhao-Fleming HH et al. | — | 2025 | → |
| Genome-Wide Association Study of Cognitive Function in Population-Based Cohorts in Japan: The Tohoku Medical Megabank Brain Magnetic Resonance Imaging Study. | Shinoda G et al. | — | 2025 | → |
| Genome-Wide Association Study of COVID-19 Breakthrough Infections and Genetic Overlap with Other Diseases: A Study of the UK Biobank. | Feng Y et al. | — | 2025 | → |
| Genome-Wide Association Study of Hypoglycemia in Adults With Diabetes in the Million Veteran Program. | Raghavan S et al. | — | 2025 | → |
| Genome-wide association study of REM sleep behavior disorder in Parkinson's disease. | Sosero YL et al. | — | 2025 | → |
| Genome-wide association study of somatic GATA1s mutations in newborns with Down syndrome. | Li Y et al. | — | 2025 | → |
| Genome-wide association study of the taste and hedonic ratings of the low-calorie sweetener acesulfame potassium. | Kan M et al. | — | 2025 | → |
| Genome-wide association study provides insights into the genetic basis of Lewy body dementia. | Zhu P et al. | — | 2025 | → |
| Genome-Wide Cross-Trait Analysis in European Populations Reveals Shared Genetic Architecture of Chronic Obstructive Pulmonary Disease and the Allergy Spectrum. | Bu L et al. | — | 2025 | → |
| Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia. | Hunt C et al. | — | 2025 | → |
| Genome-wide meta-analysis of heavy menstrual bleeding reveals 36 risk loci. | Thibord F et al. | — | 2025 | → |
| Genome-wide selection inference at short tandem repeats. | Huang B et al. | — | 2025 | → |
| Genome-wide study links cardiometabolic factors to cognition via APOA4-APOA5-ZPR1-BUD13 and other loci in rural Indians. | Chakraborty S et al. | — | 2025 | → |
| Genomic and immunogenomic profiling of extramedullary acute myeloid leukemia reveals actionable clonal branching and frequent immune editing. | Collignon C et al. | — | 2025 | → |
| Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study. | Ibrahim FE et al. | — | 2025 | → |
| Genomic continuity of Tai-Kadai-speaking populations from Southern China to Northern Thailand. | Kampuansai J et al. | — | 2025 | → |
| Genomic diversity and structure of prehistoric alpine individuals from the Tyrolean Iceman's territory. | Croze M et al. | — | 2025 | → |
| Genomic evidence supports the "long chronology" for the peopling of Sahul. | Gandini F et al. | — | 2025 | → |
| Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort. | Gupta N et al. | — | 2025 | → |
| Genomic landscape of endometrial polyps. | Reinikka S et al. | — | 2025 | → |
| Genomic risk prediction for type 2 diabetes in Australian individuals aged 70 years and older. | Yu C et al. | — | 2025 | → |
| Genotype-by-sex interaction analyses for alcohol use disorder across biobanks. | Zhou H et al. | — | 2025 | → |
| Genotype imputation from low-coverage data for medical and population genetic analyses. | Biagini SA et al. | — | 2025 | → |
| Genotype imputation from low-coverage WGS using haplotype reference panels in cultivated strawberry. | Koorevaar T et al. | — | 2025 | → |
| Germline landscape of high grade serous ovarian cancer across age groups: Is age just a number? | Sia TY et al. | — | 2025 | → |
| Germline <i>BARD1</i> Mutation in High-Risk Chinese Breast and Ovarian Cancer Patients. | Kwong A et al. | — | 2025 | → |
| Germline rare variants in cancer susceptibility genes and subsequent neoplasm risk after childhood cancer. | Zamani SA et al. | — | 2025 | → |
| Germline Telomere-Regulating Gene Variants Are Not Associated with Thyroid Cancer in a Saudi Arabian Population. | Alzahrani AS et al. | — | 2025 | → |
| Global and Sex-Stratified Genome-Wide Association Study of Long COVID Based on Patient-Driven Symptom Recall. | Polo-Alonso S et al. | — | 2025 | → |
| Glucagon Receptor Deficiency Causes Early-Onset Hepatic Steatosis. | Cacciottolo TM et al. | — | 2025 | → |
| Glycaemic responses to metformin monotherapy by SNP clusters in patients with type 2 diabetes. | Sheu WH et al. | — | 2025 | → |
| Graph-based deep reinforcement learning for haplotype assembly with Ralphi. | Battistella E et al. | — | 2025 | → |
| Greater lung cancer polygenic risk score in higher air pollution areas linked to greater rate of lung adenocarcinoma: a single-centre study in East Asia. | Chang SL et al. | — | 2025 | → |
| GRPa-PRS: A risk stratification method to identify genetically-regulated pathways in polygenic diseases. | Li X et al. | — | 2025 | → |
| GViNC: an innovative framework for genome graph comparison reveals hidden patterns in the genetic diversity of human populations. | Kamaraj V et al. | — | 2025 | → |
| GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density. | Conery M et al. | — | 2025 | → |
| Harmonizing genotype array data to understand genetic risk for brain amyloid burden in the AMYPAD PNHS Consortium. | Luckett ES et al. | — | 2025 | → |
| hDNApipe: streamlining human genome analysis and interpretation with an intuitive and user-friendly interface. | Zhang Y et al. | — | 2025 | → |
| Health Disparities and Inequities in Prostate Cancer Along the Continuum of Care. | Gardner U et al. | — | 2025 | → |
| Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets. | Ochoa S et al. | — | 2025 | → |
| High-resolution detection of copy number alterations in single cells with HiScanner. | Zhao Y et al. | — | 2025 | → |
| Human brain vascular multi-omics elucidates disease-risk associations. | Reid MM et al. | — | 2025 | → |
| Human genetics implicate thromboembolism in the pathogenesis of long COVID in individuals of European ancestry. | Schuermans A et al. | — | 2025 | → |
| Human Genetics Informing Drug Development in Cardiovascular Disease: Interleukin-6 Signaling as a Case Study. | deGoma E et al. | — | 2025 | → |
| Human Population Genetic History and Evolutionary Dynamics on the Eastern Tibetan Plateau. | He G et al. | — | 2025 | → |
| IBD-linked Genetic Variance in Intestinal Transplantation: A Multicenter Cohort Analysis. | Dubois A et al. | — | 2025 | → |
| <i>CYP2C</i>:<i>TG</i> Haplotype in Native Mexicans, Molecular Ancestry and Its Implications for <i>CYP2C19</i> Genotype-Phenotype Correlation. | de la Cruz CG et al. | — | 2025 | → |
| Identification of 1q25.2 as a novel shared locus between schizophrenia and major depressive disorder in east Asians by integrative analyses. | Guo X et al. | — | 2025 | → |
| Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree. | Wang Y et al. | — | 2025 | → |
| Identification of druggable targets in melanoma by multi-omics Mendelian randomization integrated with transcriptomic and spatial analysis. | Xing J et al. | — | 2025 | → |
| Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts. | Wang L et al. | — | 2025 | → |
| Identification of genetic variants associated with lupus nephritis in a Taiwanese cohort through systematic genetic screening. | Lee JC et al. | — | 2025 | → |
| Identification of protein targets for dyslipidaemia and cardiovascular diseases among people with South Asian ancestry: a mendelian randomisation study. | Wu S et al. | — | 2025 | → |
| Identification of replicative aging and inflammatory aging signatures via whole-genome CRISPRi screens. | Wu L et al. | — | 2025 | → |
| Identifying Alzheimer's disease-related pathways based on whole-genome sequencing data. | Wang Y et al. | — | 2025 | → |
| Identifying genetic variants associated with sugar intake and appraising the genetic correlations with cardiovascular outcomes. | Janzi S et al. | — | 2025 | → |
| Identifying the Genetic Ancestry of the Pediatric Obesity-Related Asthma Variant (rs6494395) at Rps27l. | Yang D et al. | — | 2025 | → |
| Identifying therapeutic targets for erectile dysfunction in the European population using genome-wide Mendelian randomization. | Guo P et al. | — | 2025 | → |
| Identify the origin of de novo variants in TSC patients by ddPCR. | Ni K et al. | — | 2025 | → |
| IL6 genetic perturbation mimicking IL-6 inhibition is associated with lower cardiometabolic risk. | Zhang L et al. | — | 2025 | → |
| Image-based DNA sequencing encoding for detecting low-mosaicism somatic mobile element insertions. | Tan M et al. | — | 2025 | → |
| Immune Cells Mediate the Causal Pathway Linking Multisite Chronic Pain to Asthma: A Mediation Mendelian Randomization Study. | Chen JH et al. | — | 2025 | → |
| Impact of polymorphisms on gene expression and splicing in response to exercise and diet-induced weight loss in human skeletal muscle tissues. | Wang W et al. | — | 2025 | → |
| Importance of genetic ancestry in pharmacogenomics for precision medicine. | Venkatesh R et al. | — | 2025 | → |
| Improved allele frequencies in gnomAD through local ancestry inference. | Kore P et al. | — | 2025 | → |
| Imputation disparities driven by recent selection and their impact on disease risk estimation in East and Southeast Asian populations. | Li D et al. | — | 2025 | → |
| Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities. | Dukda S et al. | — | 2025 | → |
| In-depth analysis of endogenous retrovirus expression in glioblastoma. | Murimi-Worstell DA et al. | — | 2025 | → |
| Inferring chromosome segregation error stage and crossover in trisomic disorders with application to Down syndrome. | Li Z et al. | — | 2025 | → |
| Inflammatory stromal and T cells mediate human bone marrow niche remodeling in clonal hematopoiesis and myelodysplasia. | Prummel KD et al. | — | 2025 | → |
| Influence of genetic variants and omega-3 fatty acids on acute myocardial infarction: findings from a prospective cohort study. | Huang H et al. | — | 2025 | → |
| Insights into ancestral diversity in Parkinson's disease risk: a comparative assessment of polygenic risk scores. | Saffie-Awad P et al. | — | 2025 | → |
| Integrated genetic analysis of Alzheimer's disease and stroke subtypes: insights from LDSC, PLACO, and MR studies. | Long Y et al. | — | 2025 | → |
| Integrated genomic analysis and CRISPRi implicates <i>EGFR</i> in Alzheimer's disease risk. | Leung YY et al. | — | 2025 | → |
| Integrated Genomic Analysis Reveals the Synergistic Role of PNPLA3 and ABCC8 Variants in Diabetic MASLD in Pakistan. | Shabbir A et al. | — | 2025 | → |
| Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial. | Fergus KB et al. | — | 2025 | → |
| Integrating genetics and transcriptome analyses identify potential biomarkers and immune interactions in metabolic syndrome-related sarcopenia. | Fu W et al. | — | 2025 | → |
| Integrating large scale genetic and clinical information to predict cases of heart failure. | Wu KH et al. | — | 2025 | → |
| Integrating Multi-Omics Summary Data Identifies Candidate Molecular Mechanisms for Major Depression. | Nisbet L et al. | — | 2025 | → |
| Integrating multi-omics to reveal the causal effect of gut microbiota on post-traumatic stress disorder and potential drug target analysis. | Huang H et al. | — | 2025 | → |
| Integrating Polygenic Scores into Multifactorial Breast Cancer Risk Assessment: Insights from the First Year of Clinical Implementation in Western Austria. | Forer L et al. | — | 2025 | → |
| Integrating Single-Cell Transcriptome-Wide Mendelian Randomization and Differentially Expressed Gene Analyses to Prioritize Dynamic Immune-Related Drug Targets for Cancers. | Zheng J et al. | — | 2025 | → |
| Integrative genome-wide analysis unveils the genetic landscape of gallstone disease and highlights novel loci with therapeutic potential. | Chen H et al. | — | 2025 | → |
| Integrative genomic analysis identifies novel causal genes of Hodgkin's and non-Hodgkin's lymphoma. | Shi P et al. | — | 2025 | → |
| Integrative Genotyping and Analysis of Canine Structural Variation Using Long-read and Short-read Data. | Schall PZ et al. | — | 2025 | → |
| Integrative Mendelian randomization and spatial transcriptomics analysis reveals causal links between plasma lipidome and non-small cell lung cancer. | Zhang B et al. | — | 2025 | → |
| Integrative multi-omics approaches identify molecular pathways and improve Alzheimer's disease risk prediction. | Venkatesh R et al. | — | 2025 | → |
| Integrative multi-omics data from early development to identify the genes and cell types underlying attention-deficit/hyperactivity disorder. | Jiao S et al. | — | 2025 | → |
| Integrative single-cell multi-omics profiling of human pancreatic islets identifies T1D-associated genes and regulatory signals. | D'Oliveira Albanus R et al. | — | 2025 | → |
| Interaction Between the <i>UCP2</i> rs659366 Polymorphism and Dietary Capsaicin Intake in Relation to the Inflammatory State in Mexican Adults. | Sobrevilla-Navarro AA et al. | — | 2025 | → |
| Interaction Between Vitamin D Metabolism Genetic Variants: Association with Hypovitaminosis D, Rheumatoid Arthritis, and Its Clinical Disease Activity. | Campos-López B et al. | — | 2025 | → |
| Interactions Between Polygenic Pleiotropy and Air Pollution in the Pathogenesis of Atopic Dermatitis. | Chen YW et al. | — | 2025 | → |
| Interpreting SNP heritability in admixed populations. | Huang J et al. | — | 2025 | → |
| Introducing the Y-chromosomal Ancestral-like Reference Sequence-Improving the Capture of Human Evolutionary Information. | Köksal Z et al. | — | 2025 | → |
| Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity. | Alioua N et al. | — | 2025 | → |
| Intronic VNTRs downregulate expression of HSF1 and confer genetic risk of essential tremor. | Bi H et al. | — | 2025 | → |
| Investigating the causal associations between neuroticism, schizophrenia, and cardiovascular diseases using Mendelian randomization. | Pu L et al. | — | 2025 | → |
| Investigating the Causal Relationship and Shared Genetic Basis Between Major Depression Disorder and Eight Types of Gastrointestinal Diseases. | Sun F et al. | — | 2025 | → |
| Investigating the contribution of circulating inflammatory cytokines on the link between obesity and COVID-19. | Khamis ZJ et al. | — | 2025 | → |
| Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders. | Wootton O et al. | — | 2025 | → |
| Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level. | Chang YH et al. | — | 2025 | → |
| Joint Effects of Balancing Selection and Population Bottlenecks on the Evolution of a Regulatory Region of Human Antiviral APOBEC3. | Fujito NT et al. | — | 2025 | → |
| Knockoff procedure improves susceptibility gene identifications in conditional transcriptome-wide association studies. | Zhang X et al. | — | 2025 | → |
| Lack of genetic correlation and causal association between specific gut microbiota and osteoporosis. | Chen D et al. | — | 2025 | → |
| Large deletions in the <i>F8</i> gene predict immune tolerance induction failure in people with severe hemophilia A. | Oomen I et al. | — | 2025 | → |
| Learning a refinement model for variant analysis in non-human primate genomes. | Choi J et al. | — | 2025 | → |
| Leveraging functional annotations to map rare variants associated with Alzheimer disease with gruyere. | Das A et al. | — | 2025 | → |
| Leveraging Genomic Data to Examine the Causal Impact of Alcohol, Tobacco, Cannabis, and Opioid Use on Biological and Cognitive Ageing. | Balbona JV et al. | — | 2025 | → |
| Leveraging global genetics resources to enhance polygenic prediction across ancestrally diverse populations. | Pain O | — | 2025 | → |
| Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations. | Zhou G et al. | — | 2025 | → |
| Leveraging the enrichment analysis from a genome-wide association study against epilepsy-focusing on the role of tryptophan catabolites pathway in patients with drug-resistant epilepsy. | Chang AYW et al. | — | 2025 | → |
| Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss. | Joo SY et al. | — | 2025 | → |
| Limited overlap between genetic effects on disease susceptibility and disease survival. | Yang Z et al. | — | 2025 | → |
| Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity. | Szczęśniak D et al. | — | 2025 | → |
| Local ancestry-informed GWAS of warfarin dose requirement in African Americans identifies a CYP2C19 splicing QTL. | Singh A et al. | — | 2025 | → |
| Local genetic sex differences in quantitative traits. | Uffelmann E et al. | — | 2025 | → |
| Logica: A likelihood framework for cross-ancestry local genetic correlation estimation using summary statistics. | Gao B et al. | — | 2025 | → |
| Longitudinal big biological data in the AI era. | Mardinoglu A et al. | — | 2025 | → |
| Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques. | Ray K et al. | — | 2025 | → |
| Long-read transcriptomics of a diverse human cohort reveals ancestry bias in gene annotation. | Clavell-Revelles P et al. | — | 2025 | → |
| Loss of PILRA promotes microglial immunometabolism to reduce amyloid pathology in cell and mouse models of Alzheimer's disease. | Weerakkody TN et al. | — | 2025 | → |
| LRP1b Loss Predicts Sensitivity to Immunotherapy in Patients with NSCLC: An Analysis of the Phase III CheckMate-026 Randomized Trial. | Armstrong AJ et al. | — | 2025 | → |
| LRRK2 kinase activity regulates Parkinson's disease-relevant lipids at the lysosome. | Maloney MT 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 | → |
| Machine learning models incorporating genotype and ancestry improve severe asthma risk prediction. | Tahmin N et al. | — | 2025 | → |
| Male infertility and its ties to next generation sequencing as a new forward path to definite diagnoses. | Afkari M et al. | — | 2025 | → |
| Mapping Gastroesophageal Reflux Disease and Coronary Artery Disease: A Comprehensive Analysis of Multivariable Mendelian Randomization and Shared Genetic Etiology. | Zhen Y et al. | — | 2025 | → |
| Mapping Genetic Associations With Functional Brain Area Alterations in Schizophrenia and Implications for Cortical Development. | Zhu JD et al. | — | 2025 | → |
| Mapping the Functional Epitopes of Human Growth Hormone: Integrating Structural and Evolutionary Data with Clinical Variants. | Verma S et al. | — | 2025 | → |
| Mapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing. | Luo F et al. | — | 2025 | → |
| Maternal gut microbiome during early pregnancy predicts preterm birth. | Miao Z et al. | — | 2025 | → |
| Maternal lineage diversity and health-related haplogroups in the Gilgiti and Kohistani populations of northern Pakistan. | Adnan A et al. | — | 2025 | → |
| Mediterranean-DASH Intervention for Neurodegenerative Delay (MIND) Trial: Genetic Resource for Precision Nutrition. | Liu Y et al. | — | 2025 | → |
| Mendelian randomisation analysis to discover plasma metabolites mediating the effect of obesity on cancer risk. | Yates T et al. | — | 2025 | → |
| Mendelian randomization study implicates inflammaging biomarkers in retinal vasculature, cardiovascular diseases, and longevity. | Villaplana-Velasco A et al. | — | 2025 | → |
| Meta-analysis and in-silico functional characterization of the SNCA variant rs356220 in Parkinson's disease. | Menon S et al. | — | 2025 | → |
| Meta-analysis of urinary metabolite GWAS studies identifies novel genome-wide significant loci. | Zaki JK et al. | — | 2025 | → |
| Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers. | Amuzu S et al. | — | 2025 | → |
| Methods and applications of in vivo CRISPR screening. | Santinha AJ et al. | — | 2025 | → |
| Methylation profile of individuals with sickle cell trait. | Vasconcelos AG et al. | — | 2025 | → |
| Missense mutations in intrinsically disordered protein regions link pathogenicity and phase separation. | Kipp OL et al. | — | 2025 | → |
| Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations. | Chou TH et al. | — | 2025 | → |
| Modeling the genomic architecture of adiposity and anthropometrics across the lifespan. | Arehart CH et al. | — | 2025 | → |
| Molecular and Clinical Aspects of Osteogenesis Imperfecta Type VI: A Case Series with Novel <i>SERPINF1</i> Gene Variants. | Merkuryeva ES et al. | — | 2025 | → |
| Molecular and genetic landscapes of retina and brain microglia in neurodegenerative diseases. | Ma K et al. | — | 2025 | → |
| Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients. | Mohamed AM et al. | — | 2025 | → |
| Monitoring ctDNA in aggressive B-cell lymphoma: a prospective correlative study of ctDNA kinetics and PET-CT metrics. | Vimalathas G 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 | → |
| MUC5B (rs35705950) Polymorphism and Its Association With Serum Krebs Von Den Lungen-6 (KL-6) and Matrix Metalloproteinase-7 (MMP7) in Patients With Interstitial Lung Disease (ILD) From India. | Athavale T et al. | — | 2025 | → |
| Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions. | Wingo AP et al. | — | 2025 | → |
| Multi-ancestry genome-wide association analyses of polycystic ovary syndrome. | Zhao H et al. | — | 2025 | → |
| Multi-ancestry Genome-wide Association Study of Creatine Kinase Highlights the Genetic Basis of Muscle Damage | Chen G et al. | — | 2025 | — |
| Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease. | Rajabli F et al. | — | 2025 | → |
| Multi-ancestry meta-analysis identifies genetic modifiers of age-at-onset of Alzheimer's disease at known and novel loci. | Blue EE et al. | — | 2025 | → |
| Multiancestry Transcriptome-Wide Association Study Identifies Candidate Genes Associated with Hepatoblastoma. | Xie T et al. | — | 2025 | → |
| Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia. | Zhang Q et al. | — | 2025 | → |
| Multifaceted disruption of AMPA receptor signaling by <i>CACNG8</i> variants: Integrated evidence from human genetics and molecular simulation. | Alibrandi S et al. | — | 2025 | → |
| Multilevel Transcriptomic Association Analysis Reveals Key Genes and Potential Mechanisms in Endometrial, Ovarian, and Cervical Cancers. | Liu L et al. | — | 2025 | → |
| Multimodal AI correlates of glucose spikes in people with normal glucose regulation, pre-diabetes and type 2 diabetes. | Carletti M et al. | — | 2025 | → |
| Multimodal integration of plasma biomarkers, MRI, and genetic risk to predict cerebral amyloid burden in Alzheimer's disease. | Wang Y et al. | — | 2025 | → |
| Multi-omic derived cell-type specific Alzheimer disease polygenic risk scores. | O'Neill N et al. | — | 2025 | → |
| Multi-omics analysis links NFKB1 activation to poor immunosuppressive therapy response in acquired aplastic anemia. | Li N et al. | — | 2025 | → |
| Multi-omics and comprehensive multi-trait analysis identify shared genetic etiology of heart failure and related cancers. | Shui W et al. | — | 2025 | → |
| Multi-omics and experimental validation reveal the mechanism of DanxiaTiaoban decoction in treating atherosclerosis. | Ma Y et al. | — | 2025 | → |
| Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish. | Wolford BN et al. | — | 2025 | → |
| Multivariate genome-wide analyses of insulin resistance unravel novel loci and therapeutic targets for cardiometabolic health. | Ye C et al. | — | 2025 | → |
| Multivariate genome-wide analysis reveals shared genetic architecture and brain structural correlates of human cognitive abilities. | Chen H et al. | — | 2025 | → |
| Muscle AMP deaminase activity was lower in Neandertals than in modern humans. | Macak D et al. | — | 2025 | → |
| Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure. | Ata M et al. | — | 2025 | → |
| Mutational spectrum of BRCA genes in Egyptian patients with breast cancer. | Elmetnawy W et al. | — | 2025 | → |
| Mutation profile and chromosomal abnormality in adenomyosis. | Suda K et al. | — | 2025 | → |
| Natural selection exerted by historical coronavirus epidemic(s): comparative genetic analysis in China Kadoorie Biobank and UK Biobank. | Morris S et al. | — | 2025 | → |
| Natural Selection in Transcription Factor-DNA Interaction Motifs: A Comparative and Population Genomics Perspective. | Joshi M et al. | — | 2025 | → |
| Natural Selection of a Virus-Protective FUT2 Variant Following the Transition to Agriculture. | Nordgren J et al. | — | 2025 | → |
| Nested Admixture During and After the Trans-Atlantic Slave Trade on the Island of São Tomé. | Ciccarella M et al. | — | 2025 | → |
| Neuroimaging transcriptomic analyses of Parkinson's disease highlight molecular, cellular, and neurobiological mechanisms. | Bledsoe X et al. | — | 2025 | → |
| Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context. | Mayisela M et al. | — | 2025 | → |
| No evidence of a causal relationship between negative emotions and glaucoma: evidence triangulation from genetic correlation, Mendelian randomisation and colocalisation. | Qi J et al. | — | 2025 | → |
| Non-coding genetic elements of lung cancer identified using whole genome sequencing in 13,722 Chinese. | Zhou D et al. | — | 2025 | → |
| Non-coding genetic variants underlying higher prostate cancer risk in men of African ancestry. | Li S et al. | — | 2025 | → |
| Novel differentially expressed genes and multiple biological pathways for Alzheimer's disease identified in brain tissue from African American donors. | Logue MW et al. | — | 2025 | → |
| Novel genetic variants associated with stable isotope-based vitamin B<sub>12</sub> bioavailability measurements in healthy Indian adults. | Sivadas A et al. | — | 2025 | → |
| Novel Method for Predicting Lp(a) From Genomic Testing Identifies ASCVD Risk Across a Diverse Cohort. | Telis N et al. | — | 2025 | → |
| NovumRNA: Accurate prediction of non-canonical tumor antigens from RNA sequencing data. | Ausserhofer M et al. | — | 2025 | → |
| ntRoot: computational inference of human ancestry at scale from genomic data. | Warren RL et al. | — | 2025 | → |
| Off-target effects in CRISPR-Cas genome editing for human therapeutics: Progress and challenges. | Kalter N et al. | — | 2025 | → |
| Open Data In Neurophysiology: Advancements, Solutions & Challenges. | Gillon CJ et al. | — | 2025 | → |
| Optimizing genetic ancestry adjustment in DNA methylation studies: a comparative analysis of approaches. | Höffler KD et al. | — | 2025 | → |
| Out-of-Anatolia: Cultural and genetic interactions during the Neolithic expansion in the Aegean. | Koptekin D et al. | — | 2025 | → |
| Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum. | Breen KE et al. | — | 2025 | → |
| Pastrami: a fast and efficient algorithm for fine-scale genetic ancestry inference. | Conley AB et al. | — | 2025 | → |
| Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis. | Muniroh M et al. | — | 2025 | → |
| Patient-Derived Xenograft Mouse Model of a Rare Gynecologic Malignancy: Personalized Medicine for the Treatment of Mesonephric-Like Adenocarcinoma. | Kasuya K et al. | — | 2025 | → |
| Patrilineages of ethnolinguistically diverse populations reveal multifactorial influences on Chinese paternal population stratification. | Yang T et al. | — | 2025 | → |
| Patterns of genetic admixture reveal similar rates of borrowing across diverse scenarios of language contact. | Graff A et al. | — | 2025 | → |
| Performance comparison of germline variant calling tools in sporadic disease cohorts. | Song Q et al. | — | 2025 | → |
| PG-SCUnK: measuring pangenome graph representativeness using single-copy and universal K-mers. | Cumer T et al. | — | 2025 | → |
| Pharmacogenetic Biomarkers of Ibrutinib Response and Toxicity in Chronic Lymphocytic Leukemia: Insights from an Observational Study. | Pérez-Gómez N et al. | — | 2025 | → |
| Pharmacogenetic insights into <i>MTHFR</i> and <i>SLC19A1</i> variants in low-dose methotrexate therapy for rheumatologic diseases. | Martínez Téllez G et al. | — | 2025 | → |
| Pharmacogenetics and Molecular Ancestry of <i>SLC22A1</i>, <i>SLC22A2</i>, <i>SLC22A3</i>, <i>ABCB1</i>, <i>CYP2C8</i>, <i>CYP2C9</i>, and <i>CYP2C19</i> in Ecuadorian Subjects with Type 2 Diabetes Mellitus. | Ortega-Ayala A et al. | — | 2025 | → |
| Pharmacogenomics Applied to Acute Leukemias: Identifying Clinically Relevant Genetic Variants. | Pessoa FMCP et al. | — | 2025 | → |
| Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi Arabia. | Kulmanov M et al. | — | 2025 | → |
| Phase-free local ancestry inference mitigates the impact of switch errors on phase-based methods. | Avadhanam S et al. | — | 2025 | → |
| Pigmentation and Retinal Pigment Epithelium Thickness: A Study of the Phenotypic and Genotypic Relationships Between Ocular and Extraocular Pigmented Tissues. | Julian TH et al. | — | 2025 | → |
| Plasma proteins and osteosarcoma risk: causal evidence from Mendelian randomization. | Ma H et al. | — | 2025 | → |
| Polygenic and pharmacogenomic contributions to medication dosing: a real-world longitudinal biobank study. | Kasela S et al. | — | 2025 | → |
| Polygenic architecture of brain structure and function, behaviors, and psychopathologies in children. | Joo YY et al. | — | 2025 | → |
| Polygenic Risk, Agent Orange Exposure, and Lymphoid Neoplasms in the Veterans Affairs Million Veteran Program. | Teng X et al. | — | 2025 | → |
| Polygenic Risk, Psychopathology, and Personalized Functional Brain Network Topography in Adolescence. | Sun KY et al. | — | 2025 | → |
| Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer. | Santiago LR et al. | — | 2025 | → |
| Polygenic Risk Score for Coronary Artery Disease Across the Spectrum of Atherosclerotic Disease. | Zimerman A et al. | — | 2025 | → |
| Polygenic risk score predicts pathologically confirmed cerebral amyloid angiopathy. | Pyun JM et al. | — | 2025 | → |
| Polygenic Risk Scores for Preeclampsia Prediction Beyond Gold-Standard Clinical Models in Multiethnic Populations. | Ardissino M et al. | — | 2025 | → |
| Polygenic risk scores for severe psychiatric disorders in bipolar disorders: associations with the clinical and dimensional expression, interactions with childhood maltreatment and mediation models. | Etain B et al. | — | 2025 | → |
| Polygenic scores for depression are associated with indices of neighborhood adversity. | Feurer C et al. | — | 2025 | → |
| Polymorphisms in DNA repair related genes as risk factors for lung cancer in Cuban population: a case control study. | Reyes-Reyes E et al. | — | 2025 | → |
| PopCluster Improves Accessibility, Speed and Accuracy of Available Genotypic Clustering Software. | Bailey RI | — | 2025 | → |
| Population-specific polygenic risk scores for people of Han Chinese ancestry. | Chen HH et al. | — | 2025 | → |
| Positive Selection in Aggression-Linked Genes and Their Protein Interaction Networks. | Awadi A et al. | — | 2025 | → |
| Post-traumatic stress and genetic interactions affect tobacco and alcohol use after trauma: findings from a multi-ancestry cohort. | Garrison-Desany HM et al. | — | 2025 | → |
| Power and Limitations of Inferring Genetic Ancestry. | Bird N et al. | — | 2025 | → |
| Predicting Genetic Relatedness from Low-Coverage Sequencing Data of Human and Animal Genomes Using Various Algorithms. | Lin X et al. | — | 2025 | → |
| Predicting the methylation status of CpG islands from read distribution biases. | Abdullaev ET et al. | — | 2025 | → |
| Predicting treatment-seeking status for alcohol use disorder using polygenic scores and machine learning in a deeply-phenotyped sample. | Jinwala Z et al. | — | 2025 | → |
| Prediction of pathogenic mutations in human transmembrane proteins and their associated diseases via utilizing pre-trained Bio-LLMs. | Cao L et al. | — | 2025 | → |
| Prenatal diagnosis of a <i>de novo</i> pathogenic <i>HNRNPK</i> variant in a Chinese fetus with abnormal ultrasound soft markers: a case report. | Zhu Y et al. | — | 2025 | → |
| Prevalence of risk phenotypes associated with <i>CYP2C9*2, *3,</i> and <i>VKORC1 c.-1639G>A</i> genetic polymorphisms in world populations: implications in clinical practice. | Biswas M et al. | — | 2025 | → |
| Privacy-hardened and hallucination-resistant synthetic data generation with logic-solvers. | Burgess MA et al. | — | 2025 | → |
| Program of Genomic Reference and Biobank of the Argentinian Population: A National Initiative for Genomic Equity and Population-Based Research in Argentina. | González-José R et al. | — | 2025 | → |
| ProHap Explorer: Visualizing Haplotypes in Proteogenomic Datasets. | Vasicek J et al. | — | 2025 | → |
| Promoter polymorphism rs510432 in ATG5 affects the susceptibility of noise-induced hearing loss by altering the binding of C/EBPβ. | Miao L et al. | — | 2025 | → |
| Prospective evidence for the gut-bone axis in osteoporotic fractures: Insights from genetic prediction and metabolite mediators. | Zhu B et al. | — | 2025 | → |
| Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant. | Bik-Multanowski M et al. | — | 2025 | → |
| Proteomic genotyping for individual human identification: Inferring SNPs in the absence of DNA evidence. | Tidy RJ et al. | — | 2025 | → |
| Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. | Allen S et al. | — | 2025 | → |
| RAMEN: Dissecting individual, additive and interactive gene-environment contributions to DNA methylome variability in cord blood. | Navarro-Delgado EI et al. | — | 2025 | → |
| Rare Variants Associated With Pediatric Cancer Treatment-Related Second Malignant Neoplasm Risk. | Ducos C et al. | — | 2025 | → |
| rDNAcaller: a fast and robust pipeline to call ribosomal DNA variants. | Ramirez JM et al. | — | 2025 | → |
| Recomb-Mix: fast and accurate local ancestry inference. | Wei Y et al. | — | 2025 | → |
| Recommendations for responsible use of population descriptors in polygenic risk score development. | Smith JL et al. | — | 2025 | → |
| Relationship between cognitive abilities and mental health as represented by cognitive abilities at the neural and genetic levels of analysis. | Wang Y et al. | — | 2025 | → |
| Relationships of Circulating Plasma Metabolites With the QT Interval in a Large Population Cohort. | Young WJ et al. | — | 2025 | → |
| Resolving kinship degrees with identity-by-descent coefficients: Limits and insights from a simulation study. | Wang H et al. | — | 2025 | → |
| Resolving out of Africa event for Papua New Guinean population using neural network. | Mondal M et al. | — | 2025 | → |
| Revealing the range of equally likely estimates in the admixture model. | Heinzel CS et al. | — | 2025 | → |
| Risk of aggressive prostate cancer with successive generations in the US among Latino men. | Chen F et al. | — | 2025 | → |
| Risk score roulette: A cautionary tale of polygenic risk score reliability. | Xue D et al. | — | 2025 | → |
| Robust pleiotropy-decomposed polygenic scores identify distinct contributions to elevated coronary artery disease polygenic risk. | Hu J et al. | — | 2025 | → |
| Role of genetics in the age-related testosterone decline in men: a UK Biobank study. | Ogoniak L et al. | — | 2025 | → |
| Role of metabolites in mediating the effect of gut microbiota on Crohn disease: A two-step Mendelian randomization (MR) study. | Shi H et al. | — | 2025 | → |
| SAI: A Python Package for Statistics for Adaptive Introgression. | Huang X et al. | — | 2025 | → |
| Salt taste perception, dietary salt intake, cardiovascular health and genetic variation in Zambian adults with HIV. | Masenga SK et al. | — | 2025 | → |
| Sex-stratified genome-wide association meta-analysis of major depressive disorder. | Thomas JT et al. | — | 2025 | → |
| Shared genetic architecture between anxiety, depression and erectile dysfunction: a genome-wide cross-trait analysis. | Xie L et al. | — | 2025 | → |
| Shared genetic architecture between grip strength and cognitive function: insights from large-scale genome-wide cross-trait analysis. | Liu H et al. | — | 2025 | → |
| Shared Genetic Architecture Between Psychiatric Disorders and Keratoconus: Insights From a Large-Scale Genome-Wide Cross-Trait Analysis. | Li G et al. | — | 2025 | → |
| Shared Genetic Links Between Birth Weight and Developmental-Behavioral Disorders. | Sun R et al. | — | 2025 | → |
| Single-Cell Mapping of Genetic Risk Across Ten Respiratory Diseases. | Zhou M et al. | — | 2025 | → |
| Single-Cell Profiling of Pediatric High-Grade Gliomas Reveals OPC-Like Subpopulations Driving Tumorigenic Lineage Transitions. | Tian T et al. | — | 2025 | → |
| Slab Grave expansion disrupted long co-existence of distinct Bronze Age herders in central Mongolia. | Lee J et al. | — | 2025 | → |
| SLC45A4 is a pain gene encoding a neuronal polyamine transporter. | Middleton SJ et al. | — | 2025 | → |
| Smoking as a Risk Factor for Cardiovascular Disease in Females and Males: Observational and Mendelian Randomisation Analyses in the UK Biobank. | de Ruiter SC et al. | — | 2025 | → |
| Smoking elevating osteoarthritis risk: Insights from genetics, blood DNA methylations and proteome profiles. | Ling D et al. | — | 2025 | → |
| Sparse matrix factorization robust to sample sharing across GWASs reveals interpretable genetic components. | Omdahl AR et al. | — | 2025 | → |
| Spatiotemporal dynamics of RERE in schizophrenia pathogenesis: insights from multi-omics and single-cell sequencing. | Shen J et al. | — | 2025 | → |
| Specificity of CRISPR-Cas9 Editing in Exagamglogene Autotemcel - Update. | Yen A et al. | — | 2025 | → |
| Stratified shared genetic architecture of IBD and RA: an integrated analysis from polygenic overlap to directional heterogeneity. | Jia Y et al. | — | 2025 | → |
| Stratifying lung adenocarcinoma risk with multi-ancestry polygenic risk scores in East Asian never-smokers. | Blechter B et al. | — | 2025 | → |
| Stratifying patients by TNFSF13B genotype revealed increased flare and renal flare risk, but a greater benefit from belimumab: a potential biomarker for personalized treatment in systemic lupus erythematosus. | Pireddu MP et al. | — | 2025 | → |
| Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model. | Fan X et al. | — | 2025 | → |
| STREAM-PRS: a multi-tool pipeline for streamlining polygenic risk score computation. | Becelaere S et al. | — | 2025 | → |
| Structural diversity and evolutionary constraints of oxidative phosphorylation. | Cabrera-Alarcón JL et al. | — | 2025 | → |
| Structural variation in 1,019 diverse humans based on long-read sequencing. | Schloissnig S et al. | — | 2025 | → |
| Targeting specific kinase substrates rescues increased colitis severity induced by the Crohn's disease-linked LRRK2-N2081D variant. | Heaton GR et al. | — | 2025 | → |
| Tfh2 and a subset of Tfh1 cells associate with antibody-mediated immunity to malaria. | Soon MS et al. | — | 2025 | → |
| The AADR Visualizer: An ArcGIS Online Visualizer for ancient human DNA from the Allen Ancient DNA Resource. | Yi W et al. | — | 2025 | → |
| The Associations of General, Central, Visceral Obesity, and Body Fat Percentage with Cognitive Impairment in the Elderly: Meta-analysis and Mendelian Randomization Study. | Lu D et al. | — | 2025 | → |
| The BioSUD Biobank as a genomic resource for substance use disorders in Italy. | Ribatti RM et al. | — | 2025 | → |
| The causal relationship between immune cell phenotypes and esophageal cancer development: a bidirectional Mendelian randomization study. | Zhang X et al. | — | 2025 | → |
| The causal relationship between immune cells and rheumatoid arthritis: A dual sample Mendelian randomization study. | Wang ZJ et al. | — | 2025 | → |
| The combined association between sleep duration and insomnia symptoms with dementia and cognitive deficits: a multivariable-adjusted and genetic liability study. | Stroo JF et al. | — | 2025 | → |
| The Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO): building local capacity in genomics and bioinformatics. | Mariño-Ramírez L et al. | — | 2025 | → |
| The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases. | Ehman M et al. | — | 2025 | → |
| The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities. | Arruda AL et al. | — | 2025 | → |
| The emergence of genetic variants linked to brain and cognitive traits in human evolution. | Libedinsky I et al. | — | 2025 | → |
| The Evolving Role of Artificial Intelligence in Medical Genetics: Advancing Healthcare, Research, and Biosafety Management. | Wu YC et al. | — | 2025 | → |
| The genetic architecture of cervical length is shared with spontaneous preterm birth risk. | Wolf HM et al. | — | 2025 | → |
| The Genetic Architecture of the Human Corpus Callosum and its Subregions. | Bhatt RR et al. | — | 2025 | → |
| The genetic history of the Southern Caucasus from the Bronze Age to the Early Middle Ages: 5,000 years of genetic continuity despite high mobility. | Skourtanioti E et al. | — | 2025 | → |
| The global disease burden and associated risk factors of age-related macular degeneration: a comprehensive analysis. | Liang L et al. | — | 2025 | → |
| The Health for Life in Singapore (HELIOS) Study: delivering precision medicine research for Asian populations. | Wang X et al. | — | 2025 | → |
| The importance of accurate phenotyping in large-scale analyses of common disorders such as hearing loss. | Lewis MA et al. | — | 2025 | → |
| The Indian Ocean slave trade and colonial expansion resulted in strong sex-biased admixture in South Africa. | Reynolds AW et al. | — | 2025 | → |
| The Length of Haplotype Blocks and Signals of Structural Variation in Reconstructed Genealogies. | Ignatieva A et al. | — | 2025 | → |
| The <i>SELENOP</i> Polymorphism rs7579 Predicts Hepatic Steatosis in Females With Insulin Resistance in the General Population. | Yamamoto R et al. | — | 2025 | → |
| The molecular cartography of malignant and benign sebaceous tumours. | Ferreira I et al. | — | 2025 | → |
| The mutagenic forces shaping the genomes of lung cancer in never smokers. | Díaz-Gay M et al. | — | 2025 | → |
| The peruvian genome project: expanding the global pool of genome diversity from South America. | Guio H et al. | — | 2025 | → |
| The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health. | Hirohama D et al. | — | 2025 | → |
| The RASAL2 variant promotes aberrant RAS signaling and resistance to anti-EGFR therapy in colorectal cancer. | Yeh YM et al. | — | 2025 | → |
| The role of ATG16L1 in Crohn's disease and the structural alteration mechanisms and functional consequences of the rs2241880 variant. | Ren S et al. | — | 2025 | → |
| The role of hypothyroidism in cirrhosis pathogenesis: A retrospective cohort study and multi-omics integration analysis. | Yang Z et al. | — | 2025 | → |
| Time-resolved Mendelian randomization detects substantial variation in the detrimental effect of obesity throughout life. | Karlsson T et al. | — | 2025 | → |
| Time to incorporate positive experiences and outcomes in psychosis research: genetic differential susceptibility to childhood experiences works for "better and for worse". | Barrantes-Vidal N et al. | — | 2025 | → |
| Tissue-Specific Genomic Evolution Despite Shared MED12 Mutations in Benign Tumors. | Namkung J et al. | — | 2025 | → |
| TLR9 gene polymorphism -1237T/C (rs5743836) is associated with low IgG antibody response against PvCSP variants in symptomatic P. vivax infections in Venezuela. | Carrión-Nessi FS et al. | — | 2025 | → |
| Toll-like receptor 1 polymorphism is associated with impaired immune tolerance, dysregulated inflammatory responses to <i>Borrelia burgdorferi</i>, and heightened risk of post-infectious Lyme arthritis. | Williams MA et al. | — | 2025 | → |
| Towards improved fine-mapping of candidate causal variants. | Li Z et al. | — | 2025 | → |
| Transferability of polygenic risk scores for metabolic and cardiovascular traits in an underrepresented population. | Pasookhush P et al. | — | 2025 | → |
| Tumour SNPs Associated with Immune-Related Hepatitis in Patients with Melanoma Receiving Immune Checkpoint Inhibitors. | Rodríguez-Piñas JM et al. | — | 2025 | → |
| Two Birds With One Stone: The Protective Role of the Antidiabetic Drug Sodium-Glucose Cotransporter-2 Inhibitor in Neurodegenerative Diseases. | Zhang L et al. | — | 2025 | → |
| Uncertainty-aware genomic classification of Alzheimer's disease: a transformer-based ensemble approach with Monte Carlo dropout. | Jo T et al. | — | 2025 | → |
| Uncovering a Novel Homozygous MSH6 Variant in a Child Presenting With Glioblastoma: A Case of Constitutional Mismatch Repair Deficiency. | Althomali A et al. | — | 2025 | → |
| Uncovering genetic diversity and admixture of British Africans with HLA alleles inferred from whole genome sequencing. | Liu Y et al. | — | 2025 | → |
| Uncovering methylation-dependent genetic effects on regulatory element function in diverse genomes. | Petersen RM et al. | — | 2025 | → |
| Uncovering pleiotropic loci in allergic rhinitis and leukocyte traits through multi-trait GWAS. | Yang L et al. | — | 2025 | → |
| Uncovering the Genetic Structure of the Sekler Population in Transylvania Through Genome-Wide Autosomal Data. | Szabó A et al. | — | 2025 | → |
| Understanding the Comorbidities Among Psychiatric Disorders, Chronic Low Back Pain, and Spinal Degenerative Disease Using Observational and Genetically Informed Analyses. | Qiu D et al. | — | 2025 | → |
| Unlocking the regulatory code of RNA: launching the Human RNome Project. | International Human RNome Project Consortium | — | 2025 | → |
| Unraveling the causal nexus between serum lactate levels and cancer risk: A Mendelian randomization study. | Yang L et al. | — | 2025 | → |
| Unraveling the Genetic Link Between Endocrine Hormones and Psychiatric Disorders: An Atlas of Genetic Correlations. | Li JL | — | 2025 | → |
| Unraveling the Genetic Links Between Polycystic Kidney Disease and Hypertension Through ARL13B. | Chen J et al. | — | 2025 | → |
| Unraveling the Shared Genetic Architecture and Polygenic Overlap Between Loneliness, Major Depressive Disorder, and Sleep-Related Traits. | Rehman Z et al. | — | 2025 | → |
| Unraveling the shared genetic foundations of neurodevelopmental and psychiatric disorders: Insights from comprehensive genome-wide analyses. | Maimaiti A et al. | — | 2025 | → |
| Unravelling the genetic architecture of inflammatory bowel disease multiplex families with rare and common variant polygenic risk scores. | Jans DS et al. | — | 2025 | → |
| Unveiling genetic signatures of immune response in immune-related diseases through single-cell eQTL analysis across diverse conditions. | Zhang Z et al. | — | 2025 | → |
| Unveiling the genetic overlap and causal links between gastroesophageal reflux disease and asthma. | Zhang Y et al. | — | 2025 | → |
| Unveiling the genetic pleiotropy between anxiety disorders and autoimmune diseases: insights from large-scale genome-wide cross-trait analysis. | Lin H et al. | — | 2025 | → |
| Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants. | Danner M et al. | — | 2025 | → |
| varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction. | Nazaretyan L et al. | — | 2025 | → |
| Variability of transposable elements in six genetic isolates from North-Eastern Italy and their relationship with alcohol consumption, tobacco use and BMI. | Modenini G et al. | — | 2025 | → |
| Vitamin A and vitamin B12 levels and coronary artery atherosclerosis: Univariate and multivariate Mendelian randomization analysis. | Huang L et al. | — | 2025 | → |
| WES-Based Screening of a Swedish Patient Series with Parkinson's Disease. | Kafantari E et al. | — | 2025 | → |
| White matter microstructure in mid- to late adulthood is influenced by pathway-stratified polygenic risk for Alzheimer's disease. | Harrison JR et al. | — | 2025 | → |
| Whole-exome sequencing in Saudi colorectal cancer patients reveals distinct mutational patterns and population specific pathogenic variants. | Alatwi HE et al. | — | 2025 | → |
| Whole-Exome Sequencing Reveals Rare Genetic Variants in Saudi COVID-19 Patients with Extreme Phenotypes. | Mir R et al. | — | 2025 | → |
| Whole-exome sequencing study of opioid dependence offers novel insights into the contributions of exome variants. | Wang L et al. | — | 2025 | → |
| Whole-genome ancestry of an Old Kingdom Egyptian. | Morez Jacobs A et al. | — | 2025 | → |
| Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals. | Selvaraj MS et al. | — | 2025 | → |
| Whole-genome Sequence Analysis Revealed Novel Subjective Cognitive Decline-associated Genes in 10,763 Chinese. | Wang M et al. | — | 2025 | → |
| Whole-genome sequences provide insights into the formation and adaptation of human populations in the Himalayas. | Arciero E et al. | — | 2025 | → |
| Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways. | Tuncay IO et al. | — | 2025 | → |
| Whole-Genome Sequencing in Galicia Reveals Male-Biased Pre-Islamic North African Ancestry, Subtle Population Structure, and Microgeographic Patterns of Disease Risk. | Pardo-Seco J et al. | — | 2025 | → |
| Whole-genome sequencing of 490,640 UK Biobank participants. | UK Biobank Whole-Genome Sequencing Consortium | — | 2025 | → |
| Wide-scale geographical analysis of genetic ancestry in the South African Coloured population. | Lankheet I et al. | — | 2025 | → |
| Widespread but moderate genetic overlap between circulating polyunsaturated fatty acids and brain disorders. | Xu H et al. | — | 2025 | → |
| WinPCA: a package for windowed principal component analysis. | Blumer LM et al. | — | 2025 | → |
| X-LDR: an atlas of linkage disequilibrium across species. | Zhu TN et al. | — | 2025 | → |
| Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy. | Suzuki T et al. | — | 2025 | → |
| Y-mer: a k-mer based method for determining human Y chromosome haplogroups from ultra-low sequencing depth data. | Puurand T et al. | — | 2025 | → |