Next-generation genotype imputation service and methods.
paper
Cited
Public
- Authors
- Das, Sayantan; Forer, Lukas; Schânherr, Sebastian; Sidore, Carlo; Locke, Adam E; Kwong, Alan; Vrieze, Scott I; Chew, Emily Y; Levy, Shawn; McGue, Matt; Schlessinger, David; Stambolian, Dwight; Loh, Po-Ru; Iacono, William G; Swaroop, Anand; Scott, Laura J; Cucca, Francesco; Kronenberg, Florian; Boehnke, Michael; Abecasis, Gonçalo R; Fuchsberger, Christian
- Year
- 2016
- Journal
- Nature genetics
- PMID
- 27571263
- DOI
- 10.1038/ng.3656
- PMCID
- PMC5157836
Genotype imputation is a key component of genetic association studies, where it increases power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is computationally demanding and, with current tools, typically requires access to a high-performance computing cluster and to a reference panel of sequenced genomes. Here we describe improvements to imputation machinery that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools. We also describe a new web-based service for imputation that facilitates access to new reference panels and greatly improves user experience and productivity.
Overview of state space reduction. We consider a chromosome region with M = 9 markers and H = 8 haplotypes: X1, X2, ..., X8. We break the region into consecutive genomic segments (blocks) and start by analyzing block B from marker 1 to marker 6. In block B, we identify U = 3 unique haplotypes: Y1, Y2, and Y3 (colored in green, red, and blue, respectively). Given we know the left probabilities of the original state space at marker 1 (that is, L1(X1), ..., L1(X8)), we fold them to get the left probabilities of the reduced state space at marker 1: L1(Y1), L1(Y2), and L1(Y3). We implement HMM on the reduced state space (Y1, Y2, and Y3) from marker 1 to marker 6 to get L6(Y1), L6(Y2), and L6(Y3). We next unfold the left probabilities of the reduced state space at marker 6 to obtain the left probabilities of the original state space: L6(X1), ..., L6(X8). We repeat this procedure on the next block, starting with L6(X1), ..., L6(X8), to finally obtain L9(X1), ..., L9(X8).
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| Concentration and genetic regulation of sex hormone binding globulin and fracture risk in older women. | Wang Y et al. | β | 2025 | β |
| Constructing a multi-ancestry polygenic risk score for uterine fibroids using publicly available data highlights need for inclusive genetic research. | Winters JLG et al. | β | 2025 | β |
| Contribution of genetics to hematopoietic stem cell mobilization: a genome-wide association study of 564 healthy donors mobilized with granulocyte colony-stimulating factor. | Stenzinger M et al. | β | 2025 | β |
| Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder. | Yata T et al. | β | 2025 | β |
| Convergent evolution of complex adaptive traits modulates angiogenesis in high-altitude Andean and Himalayan human populations. | Ferraretti G et al. | β | 2025 | β |
| Correlation between polygenic risk scores of depression and cortical morphology networks. | Gong Q et al. | β | 2025 | β |
| Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites. | Ebrahimi E et al. | β | 2025 | β |
| Cross-sectional, interventional, and causal investigation of insulin sensitivity using plasma proteomics in diverse populations. | Kho PF et al. | β | 2025 | β |
| Cross-sectional study of plasma phosphorylated tau 217 in persons without dementia. | Saari TT et al. | β | 2025 | β |
| CXCL12 drives natural variation in coronary artery anatomy across diverse populations. | Rios Coronado PE et al. | β | 2025 | β |
| Deep analysis of the major histocompatibility complex genetic associations using covariate analysis and haploblocks unravels new mechanisms for the molecular etiology of Elite Control in AIDS. | Rahmouni M et al. | β | 2025 | β |
| Demographic, genetic, neuroimaging, and behavioral correlates of short social responsiveness scale in a large pediatric cohort. | Huang L et al. | β | 2025 | β |
| Derivation of pluripotent stem cell lines (RFSCi005-A, RFSCi006-A) from siblings harboring identical high-risk complement variants with discordant age-related macular degeneration. | Rajendran N et al. | β | 2025 | β |
| Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis. | McMenamin KJ et al. | β | 2025 | β |
| Development and recalibrationΒ of aΒ multivariableΒ type 1 diabetes prediction model forΒ type 1 diabetes across multiple screening studies. | Templeman EL et al. | β | 2025 | β |
| Development and validation of a next-generation sequencing-based method for calculating the breast cancer polygenic risk score PRS<sub>313</sub>. | Ponelle-Chachuat F et al. | β | 2025 | β |
| Development and Validation of Polygenic Scores for Retinal Vessel Calibers. | Yu C et al. | β | 2025 | β |
| Differential performance of polygenic risk scores for heart disease in Hispanic/Latino subgroups: Findings of the Hispanic Community Health Study/Study of Latinos. | Hutten CG et al. | β | 2025 | β |
| Differential Performance of Polygenic Score for Coronary Artery Disease Based on Coronary Artery Calcium Between Men Living With and Without HIV. | Wojcik G et al. | β | 2025 | β |
| Distinct glial functions are associated with Alzheimer's disease based on cell-type- and pathway-specific polygenic risk score analysis. | Pratt T et al. | β | 2025 | β |
| Diverse-Ancestry GWAS of Age-Related Macular Degeneration on 16,108 Examined Cases and 18,038 Controls. | Gorski M et al. | β | 2025 | β |
| DNA methylation: a potential mediator between air pollution exposures and asthma control. | Nguyen MN et al. | β | 2025 | β |
| DNA methylation markers of insulin resistance surrogate measures in the Atherosclerosis Risk in Communities (ARIC) study. | Shin J et al. | β | 2025 | β |
| DNA methylation signature of oxidative stress and its mediating role in response to metal exposure. | Wang Y et al. | β | 2025 | β |
| Do Common Genetic Factors Underlie Comorbidity Between Migraine and Major Depressive Disorder in Youth? | Merikangas AK et al. | β | 2025 | β |
| DPImpute: A Genotype Imputation Framework for Ultra-Low Coverage Whole-Genome Sequencing and its Application in Genomic Selection. | Zheng W et al. | β | 2025 | β |
| Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents. | Nair JM et al. | β | 2025 | β |
| Effect of PCSK9 Inhibition With Alirocumab in Patients With Probable Familial Hypercholesterolemia or Type III Hyperlipoproteinemia: Results From the ODYSSEY OUTCOMES Trial. | Geba GP et al. | β | 2025 | β |
| Electrophysiological resting-state signatures link polygenic scores to general intelligence. | Engler R et al. | β | 2025 | β |
| Elevated uric acid levels, mortality and cognitive impairment in children with severe malaria. | Bond C et al. | β | 2025 | β |
| Ensemble-learning approach improves fracture prediction using genomic and phenotypic data. | Wu Q et al. | β | 2025 | β |
| Environmental and Genetic Influences on Developmental Outcomes Across the Domains of Language, Cognition, Motor Function, and Social Behavior. | Schiavon M et al. | β | 2025 | β |
| EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis. | Wang L et al. | β | 2025 | β |
| Epidemiology and genetic determination of measures of peripheral vascular health in the Long Life Family Study. | Fricke DR et al. | β | 2025 | β |
| Epigenetic and genetic profiling of comorbidity patterns among substance dependence diagnoses. | Pathak GA et al. | β | 2025 | β |
| Epigenome-wide association study, meta-analysis, and multiscore profiling of whole blood in Parkinson's disease. | Lie IH et al. | β | 2025 | β |
| Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma. | Le NQ et al. | β | 2025 | β |
| Evaluation of genomic selection models using whole genome sequence data and functional annotation in Belgian Blue cattle. | Yuan C et al. | β | 2025 | β |
| Evaluation of imputation performance of multiple reference panels in a Pakistani population. | Xu J et al. | β | 2025 | β |
| Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage. | Huang X et al. | β | 2025 | β |
| Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings. | Zheng SL et al. | β | 2025 | β |
| Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families. | Rout M et al. | β | 2025 | β |
| Exploration of Genetic Liability to Insomnia and Substance Use Disorders in Patients With Bipolar Disorder. | Melhuish Beaupre LM et al. | β | 2025 | β |
| Exploring depression treatment response by using polygenic risk scoring across diverse populations. | Lapinska S et al. | β | 2025 | β |
| Exploring the application of deep learning methods for polygenic risk score estimation. | Squires S et al. | β | 2025 | β |
| Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations. | Ruiz M et al. | β | 2025 | β |
| Familial and genetic relationships of major depressive disorders and adiposity markers in the community. | Berney A et al. | β | 2025 | β |
| Female Reproductive Factors in Relation to Risk of Exfoliation Glaucoma or Glaucoma Suspect. | Kang JH et al. | β | 2025 | β |
| Fine-mapping the CYP2A6 regional association with nicotine metabolism among African American smokers. | Pouget JG et al. | β | 2025 | β |
| FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries. | Wonkam A et al. | β | 2025 | β |
| FM3VCF: A software library for accelerating the loading of large VCF files in genotype data analyses. | Zuo Z et al. | β | 2025 | β |
| Folate Interaction With Genetic Risk for Neural Tube Defects Among Infants in Bangladesh. | Mondragon-Estrada E et al. | β | 2025 | β |
| From Genetics to Psychosocial Functioning: Unraveling the Mediating Roles of Cognitive Reserve, Cognition, and Negative Symptoms in First-Episode Psychosis. | Forte MF et al. | β | 2025 | β |
| GCRP: Integrated Global Chicken Reference Panel from 11,951 Chicken Genomes. | Zhu D et al. | β | 2025 | β |
| GDBIG: A Pioneering Birth Cohort Genomic Platform Facilitating Intergenerational Genetic Research. | Huang S et al. | β | 2025 | β |
| Gene-Air Pollution Interaction and Diversity of Genetic Sampling: The Southern California Children's Health Study. | Po J et al. | β | 2025 | β |
| Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos. | Erdogan-Yildirim Z et al. | β | 2025 | β |
| Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy. | Stickley SA et al. | β | 2025 | β |
| Gene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia. | Dang X et al. | β | 2025 | β |
| Gene regulatory activity associated with polycystic ovary syndrome revealed DENND1A-dependent testosterone production. | Sankaranarayanan L et al. | β | 2025 | β |
| Gene signatures derived from transcriptomic-causal networks stratify colorectal cancer patients for effective targeted therapy. | Yazdani A et al. | β | 2025 | β |
| Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility. | Betti MJ et al. | β | 2025 | β |
| Genetic Analysis of Asymptomatic Antinuclear Antibody Production. | HocaoΗ§lu M et al. | β | 2025 | β |
| Genetic analysis of psychosis Biotypes: shared Ancestry-adjusted polygenic risk and unique genomic associations. | Xia C et al. | β | 2025 | β |
| Genetic association analyses of cognitive performance across multi-ancestry older adults: Application of Tobit models. | Wu X et al. | β | 2025 | β |
| Genetic associations with consumption of palatable foods in the absence of hunger in response to food cues in children. | Yeum D et al. | β | 2025 | β |
| Genetic Associations With C-peptide Levels Before Type 1 Diabetes Diagnosis in At-risk Relatives. | Triolo TM et al. | β | 2025 | β |
| Genetic burden of lupus increases the risk of transition from normal to preclinical autoimmune conditions via antinuclear antibody development. | Chun S et al. | β | 2025 | β |
| Genetic Contribution to Medium-Term Disease Activity in Multiple Sclerosis. | Mascia E et al. | β | 2025 | β |
| Genetic Correlates of Treatment-Resistant Depression. | Xu B et al. | β | 2025 | β |
| Genetic coupling of enhancer activity and connectivity in gene expression control. | Ray-Jones H et al. | β | 2025 | β |
| Genetic determinants of gene expression noise and its role in complex trait variation. | Long Y et al. | β | 2025 | β |
| Genetic differences in the HLA region contribute to the variability in SARS-CoV-2 vaccine responsiveness of older persons: the Doetinchem Cohort Study. | Kuijpers Y et al. | β | 2025 | β |
| Genetic Discovery and Risk Prediction for Type 1 Diabetes in Individuals Without High-Risk HLA-DR3/DR4 Haplotypes. | McGrail C et al. | β | 2025 | β |
| Genetic effects on chromatin accessibility uncover mechanisms of liver gene regulation and quantitative traits. | Currin KW et al. | β | 2025 | β |
| Genetic estimates and genome-wide association studies of antibody response in Tanzanian dairy cattle. | Hernandez-Castro LE et al. | β | 2025 | β |
| Genetic insights into CRP levels in Indian adolescents: confirming adult genetic associations. | Nair JM et al. | β | 2025 | β |
| Genetic modifiers and ascertainment drive variable expressivity of complex disorders. | Jensen M et al. | β | 2025 | β |
| Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits. | Ghatan S et al. | β | 2025 | β |
| Genetic Overlap Between DSM-IV Major Depressive Disorder and Suicidal Behaviors: Evidence from Polygenic Risk Scores in Young Adult Twins. | Gillespie NA et al. | β | 2025 | β |
| Genetic overlap between functional impairment and depression and anxiety symptom severity: evidence from the GLAD Study. | Skelton M et al. | β | 2025 | β |
| Genetic prediction of early adolescent chronotype: effects of sex and pubertal status. | Hernandez LM et al. | β | 2025 | β |
| Genetic predictions of eye and hair colour in the Danish population. | Cabrejas-Olalla A et al. | β | 2025 | β |
| Genetic Predisposition to Hippocampal Atrophy and Risk of Amnestic Mild Cognitive Impairment and Alzheimer's Dementia. | Liampas I et al. | β | 2025 | β |
| Genetic PrΞΏpensity for Different Aspects of Dementia Pathology and Cognitive Decline in a Community Elderly Population. | Sampatakakis SN et al. | β | 2025 | β |
| Genetic relationships between systemic lupus erythematosus and a positive antinuclear antibody test in the absence of autoimmune disease. | Khan A et al. | β | 2025 | β |
| Genetic Risk and OCT-Based Phenotypic Associations in Age-Related Macular Degeneration. | Jaskoll S et al. | β | 2025 | β |
| Genetics and context for precision health in Greater Boston. | Koyama S et al. | β | 2025 | β |
| Genetics of circulating proteins in newborn babies at high risk of type 1 diabetes. | Tutino M et al. | β | 2025 | β |
| Genetic susceptibility and validation of angiographic patterns in Takayasu arteritis. | Casares-Marfil D et al. | β | 2025 | β |
| Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic. | de Rojas I et al. | β | 2025 | β |
| GeneticΒ variantsΒ associatedΒ withΒ metabolic dysfunction-associatedΒ fattyΒ liverΒ diseasesΒ inΒ aΒ KoreanΒ population. | Park JH et al. | β | 2025 | β |
| Genetic Variants Associated With Preeclampsia and Maternal Serum sFLT1 Levels. | Mack JA et al. | β | 2025 | β |
| Genetic Variants, Metabolic Dysfunction-Associated Fatty Liver Disease, and Major Health Outcomes in Older Adults. | Clayton-Chubb D et al. | β | 2025 | β |
| Genetic variation in RYR1 is associated with heart failure progression and mortality in a diverse patient population. | Guerra LA et al. | β | 2025 | β |
| Genetic variation in the FMO and GSTO gene clusters impacts arsenic metabolism in humans. | Tamayo LI et al. | β | 2025 | β |
| Genome diversity and signatures of natural selection in mainland Southeast Asia. | He Y et al. | β | 2025 | β |
| Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population. | Enzan N et al. | β | 2025 | β |
| Genome-wide association analyses identify candidate loci for amyloid imaging and plasma biomarkers in adults with Down syndrome. | Aslam MM et al. | β | 2025 | β |
| Genome-wide association analysis identifies APOE as a mitophagy modifier in Lewy body disease. | Hou X et al. | β | 2025 | β |
| Genome-wide association analysis identifies fucosyltransferase 2 variants associated with pancreatic intraductal papillary mucinous neoplasms. | Gaitanidis A et al. | β | 2025 | β |
| Genome-wide association meta-analyses of drug-resistant epilepsy. | Leu C et al. | β | 2025 | β |
| Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants. | FΓΆrster F et al. | β | 2025 | β |
| Genome-wide association of tau neuroimaging and plasma biomarkers in adults with Down syndrome. | Fan KH et al. | β | 2025 | β |
| Genome-wide association study for loci associated with positive antinuclear antibodies. | Cui J et al. | β | 2025 | β |
| Genome-wide association study identifies <i>ABCG1</i> as a susceptibility locus for tick-borne encephalitis. | Gampawar PG et al. | β | 2025 | β |
| Genome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction. | Imtiaz MA et al. | β | 2025 | β |
| Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer. | Barnes DR et al. | β | 2025 | β |
| Genome-wide association study of childhood B-cell acute lymphoblastic leukemia reveals novel African ancestry-specific susceptibility loci. | Im C et al. | β | 2025 | β |
| Genome-wide association study of early-stage non-small cell lung cancer prognosis: a pooled analysis in the International Lung Cancer Consortium. | Dong M et al. | β | 2025 | β |
| Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers. | Somerville EN et al. | β | 2025 | β |
| Genome-wide association study of myocarditis and pericarditis following COVID-19 vaccination. | Cavalli M et al. | β | 2025 | β |
| Genome-wide association study of neuropathological features in Lewy body disease. | Valentino RR et al. | β | 2025 | β |
| Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups. | Hoffmann TJ et al. | β | 2025 | β |
| Genome-wide association study of REM sleep behavior disorder in Parkinson's disease. | Sosero YL et al. | β | 2025 | β |
| Genome-Wide Association Study Reveals Genetic Architecture of Common Epilepsies. | Thakran S et al. | β | 2025 | β |
| Genome-wide meta-analysis associates donor-recipient non-HLA genetic mismatch with acute cellular rejection post-liver transplantation. | Nieuwenhuis LM et al. | β | 2025 | β |
| Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression. | Foco L et al. | β | 2025 | β |
| Genomic Differences between Spontaneous versus Indicated Extreme Preterm Birth. | Ambalavanan N et al. | β | 2025 | β |
| Genomic platform specific polygenic risk scores impact breast cancer risk stratification. | Ho PJ et al. | β | 2025 | β |
| Genomic Prediction Using Imputed Whole-Genome Sequence Data in Australian Angus Cattle. | Kamprasert N et al. | β | 2025 | β |
| Genomic regions associated with alpha-fetoproteins identified through a population-scale study in the Taiwan biobank. | Lin E et al. | β | 2025 | β |
| Genomic risk prediction for depression in a large prospective study of older adults of European descent. | Yu C et al. | β | 2025 | β |
| Genomic risk prediction for type 2 diabetes in Australian individuals aged 70βyears and older. | Yu C et al. | β | 2025 | β |
| Genomic Risk Prediction of Incident Atrial Fibrillation in Older Individuals Without Prior Cardiovascular Disease. | Fransquet PD et al. | β | 2025 | β |
| Genomics yields biological and phenotypic insights into bipolar disorder. | O'Connell KS et al. | β | 2025 | β |
| Genotype imputation accuracy of X chromosome variants in Holstein cattle based on different software and imputation strategies. | de Souza TC et al. | β | 2025 | β |
| Genotype-Phenotype Discrepancies in Family Members With a Novel Glucokinase Mutation: Insights Into GCK-MODY and Its Interplay With Insulin Resistance. | Ji S et al. | β | 2025 | β |
| Germline determinants of toxicity and efficacy in patients with large B-cell lymphoma treated with CAR T-cell therapy. | Strati P et al. | β | 2025 | β |
| Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity. | Sonehara K et al. | β | 2025 | β |
| Glycaemic responses to metformin monotherapy by SNP clusters in patients with type 2 diabetes. | Sheu WH et al. | β | 2025 | β |
| 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. | β | 2025 | β |
| Haematological setpoints are a stable and patient-specific deep phenotype. | Foy BH et al. | β | 2025 | β |
| Haemochromatosis Genotypes and Incident Dementia in a Prospective Study of Older Adults. | Yu C et al. | β | 2025 | β |
| Harmonizing genotype array data to understand genetic risk for brain amyloid burden in the AMYPAD PNHS Consortium. | Luckett ES et al. | β | 2025 | β |
| Healthy First-Degree Relatives From Multiplex Families vs Simplex Families Have Higher Subclinical Intestinal Inflammation, a Distinct Fecal Microbial Signature, and Harbor a Higher Risk of Developing Crohn's Disease. | Olivera PA et al. | β | 2025 | β |
| Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study. | Sutoh Y et al. | β | 2025 | β |
| Highly replicating hepatitis C virus variants emerge in immunosuppressed patients causing severe disease. | Rothhaar P et al. | β | 2025 | β |
| HLA-B Serine 116 Confers Protection Against Severe COVID-19 in a Cohort From Rio de Janeiro, Brazil. | Pereira MADS et al. | β | 2025 | β |
| HLA loci heterozygosity modulates genetic risk in idiopathic inflammatory myopathies. | Chen G et al. | β | 2025 | β |
| Host and environmental determinants of human milk oligosaccharides and microbiota in the Lifelines NEXT cohort. | Spreckels JE et al. | β | 2025 | β |
| How childhood adversities shape minds and lives: An analysis across the affective-to-psychotic spectrum. | Greiner SK et al. | β | 2025 | β |
| IA-2A positivity increases risk of progression within and across established stages of type 1 diabetes. | Sims EK et al. | β | 2025 | β |
| Identification and replication of sex-dimorphic protein quantitative trait loci across multiple ancestries and their associations with diseases. | Bhak Y et al. | β | 2025 | β |
| Identification of a new genetic locus associated with atrial fibrillation in the Taiwanese population by genome-wide and transcriptome-wide association studies. | Lee GW et al. | β | 2025 | β |
| Identification of MMP14 and MKLN1 as colorectal cancer susceptibility genes and drug-repositioning candidates from a genome-wide association study. | Yun D et al. | β | 2025 | β |
| Identification of novel genetic biomarkers for ChAdOx1 nCoV-19 mediated immunogenicity. | Chou WH et al. | β | 2025 | β |
| Identification of SjΓΆgren's disease-associated T cell receptor motifs through deep sequencing. | Jupudi AA et al. | β | 2025 | β |
| Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation. | Reddy IA et al. | β | 2025 | β |
| Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data. | Robertson E et al. | β | 2025 | β |
| Immune dysregulation in bipolar disorder. | Argue BMR et al. | β | 2025 | β |
| Impact of Conventional Stroke Risk Factors on Early- and Late-Onset Ischemic Stroke: A Mendelian Randomization Study. | Nguyen KTK et al. | β | 2025 | β |
| Impact of placental and peripheral blood DNA methylation on celiac disease susceptibility. | Hernangomez-Laderas A et al. | β | 2025 | β |
| 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. | β | 2025 | β |
| Improving genomic prediction accuracy of pig reproductive traits based on genotype imputation using preselected markers with different imputation platforms. | Sun J et al. | β | 2025 | β |
| Impulsivity behaviors and white matter mediate the relationship between genetic risk for cannabis use disorder and early cannabis use in adolescents. | Cupertino RB et al. | β | 2025 | β |
| Imputation disparities driven by recent selection and their impact on disease risk estimation in East and Southeast Asian populations. | Li D et al. | β | 2025 | β |
| Incorporating local ancestry information to predict genetically associated DNA methylation in admixed populations. | Cheng Y et al. | β | 2025 | β |
| Independent versus joint effects of polygenic or family-based schizophrenia risk in diverse ancestry youth in the ABCD study. | Hyat M et al. | β | 2025 | β |
| Inflammatory stromal and T cells mediate human bone marrow niche remodeling in clonal hematopoiesis and myelodysplasia. | Prummel KD et al. | β | 2025 | β |
| Insights into ancestral diversity in Parkinson's disease risk: a comparative assessment of polygenic risk scores. | Saffie-Awad P et al. | β | 2025 | β |
| Integrated single-cell multiomic profiling of caudate nucleus suggests key mechanisms in alcohol use disorder. | Green NC et al. | β | 2025 | β |
| Integrating Intermediate Traits in Phylogenetic Genotype-to-Phenotype Studies. | Clark NL et al. | β | 2025 | β |
| Integrating Polygenic Scores into Multifactorial Breast Cancer Risk Assessment: Insights from the First Year of Clinical Implementation in Western Austria. | Forer L et al. | β | 2025 | β |
| Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis. | Oliva M et al. | β | 2025 | β |
| Integrative genomics sheds light on the immunogenetics of tuberculosis in cattle. | O'Grady JF et al. | β | 2025 | β |
| Integrative single-cell multi-omics profiling of human pancreatic islets identifies T1D-associated genes and regulatory signals. | D'Oliveira Albanus R et al. | β | 2025 | β |
| Interaction between coffee consumption and polygenic risk score in relation to diabetes: insights from the Maastricht study. | Rao Y et al. | β | 2025 | β |
| Interaction between genetic predisposition to successful ageing and chronic air pollution on lung disease in elderly women: results of the German SALIA cohort. | Kress S et al. | β | 2025 | β |
| Interactions Between Polygenic Pleiotropy and Air Pollution in the Pathogenesis of Atopic Dermatitis. | Chen YW et al. | β | 2025 | β |
| Interplay of Polygenic Risk Score, Smoking Statuses, and Air Pollution on Lung Adenocarcinoma Risk inΒ a Taiwanese Population. | Chen IC et al. | β | 2025 | β |
| Interrelationships between polygenic risk scores, cognition, symptoms, and functioning in first-episode psychosis: A network analysis approach. | Gil-Berrozpe GJ et al. | β | 2025 | β |
| In Utero Exposure to Maternal Hyperglycemia and Offspring Type 2 Diabetes Genetic Risk Score Are Independently Associated With Risk of Impaired Glucose Tolerance in Youth. | Dieguez AC et al. | β | 2025 | β |
| Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants. | Liu H et al. | β | 2025 | β |
| Large deletions in the <i>F8</i> gene predict immune tolerance induction failure in people with severe hemophilia A. | Oomen I et al. | β | 2025 | β |
| Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking. | He W et al. | β | 2025 | β |
| Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits. | Petty LE et al. | β | 2025 | β |
| LATE-NC Stage 3: a diagnostic rubric to differentiate severe LATE-NC from FTLD-TDP. | Shahidehpour RK et al. | β | 2025 | β |
| Learning-augmented sketching offers improved performance for privacy preserving and secure GWAS. | Xu J et al. | β | 2025 | β |
| Learning Gaussian Graphical Models from Correlated Data. | Song Z et al. | β | 2025 | β |
| Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations. | Zhou G et al. | β | 2025 | β |
| Life Purpose Lowers Risk for Cognitive Impairment in a United States Population-Based Cohort. | Howard NC et al. | β | 2025 | β |
| Lifetime water arsenic, genetic susceptibility, and bladder cancer in the New England Bladder Cancer Study. | Pomares-Millan H et al. | β | 2025 | β |
| Linking polygenic risk scores to dopaminergic neuron loss using neuromelanin-sensitive imaging. | Lanore A et al. | β | 2025 | β |
| Lipid trajectories improve risk models for Alzheimer's disease and mild cognitive impairment. | Chase BA et al. | β | 2025 | β |
| Local ancestry-informed GWAS of warfarin dose requirement in African Americans identifies a CYP2C19 splicing QTL. | Singh A et al. | β | 2025 | β |
| Local cortical structure pattern and genetic links in schizophrenia: An MRI and CRISPR/Cas9 study. | Hou PS et al. | β | 2025 | β |
| Long-Chain Polysaturated Fatty Acid in Atrial Fibrillation-Associated Stroke: Lipidomic-GWAS Study. | Jung Y et al. | β | 2025 | β |
| Longitudinal Association of a Polygenic Risk Score for Plasma T-Tau With Incident Alzheimer Dementia and Mild Cognitive Impairment. | Mourtzi N et al. | β | 2025 | β |
| Long-read sequencing reveals novel genetic polymorphisms in the major histocompatibility complex region and their impacts on the Han Chinese population. | Zhou C et al. | β | 2025 | β |
| Low-Coverage Whole-Genome Sequencing (lcWGS) in Cattle: Analysis of Potential and Prospects for Application. | Kostyunina O et al. | β | 2025 | β |
| Low Stability and Specificity of Polygenic Risk Scores for Major Psychiatric Disorders Limit Their Clinical Utility. | Mollon J et al. | β | 2025 | β |
| Machine Learning-Based Prediction of Gout Using Polygenic Risk Scores and Clinical Variables: A Korean Cohort Study. | Kwak DH et al. | β | 2025 | β |
| Machine learning models for pharmacogenomic variant effect predictions - recent developments and future frontiers. | Tremmel R et al. | β | 2025 | β |
| Machine Learning on Prediagnostic Metabolite Data Identifies Etiologic Endotypes of Exfoliation Glaucoma in United States Health Professionals. | Hanyuda A et al. | β | 2025 | β |
| Mapping Genetic Associations With Functional Brain Area Alterations in Schizophrenia and Implications for Cortical Development. | Zhu JD et al. | β | 2025 | β |
| Mapping the landscape of childhood obesity: genomic insights and socioeconomic status in Indian school-going children. | Nair JM et al. | β | 2025 | β |
| Mapping the microRNA landscape in the older adult brain and its genetic contribution to neuropsychiatric conditions. | Vattathil SM et al. | β | 2025 | β |
| Mediterranean-DASH Intervention for Neurodegenerative Delay (MIND) Trial: Genetic Resource for Precision Nutrition. | Liu Y et al. | β | 2025 | β |
| Mendelian randomization study of sleep traits and risk of colorectal cancer. | Dimopoulou O et al. | β | 2025 | β |
| Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity. | Mies G et al. | β | 2025 | β |
| Metabolome-wide association identifies ferredoxin-1 (FDX1) as a determinant of cholesterol metabolism and cardiovascular risk in Asian populations. | Sadhu N et al. | β | 2025 | β |
| Metabolomic Signatures and Predictive Utility of <i>LOXL1</i>-Associated Genetic Risk Scores for Exfoliation Syndrome/Glaucoma in US Cohorts. | Juramt N et al. | β | 2025 | β |
| Missing genotype imputation in non-model species using self-organizing maps. | Mora-MΓ‘rquez F et al. | β | 2025 | β |
| Moderation of treatment outcomes by polygenic risk for alcohol-related traits in placebo-controlled trials of topiramate. | Kranzler HR et al. | β | 2025 | β |
| Modulatory Neurotransmitter Genotypes Shape Dynamic Functional Connectome Reconfigurations. | Jun S et al. | β | 2025 | β |
| Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions. | Wingo AP et al. | β | 2025 | β |
| Multi-ancestry genome-wide association analyses: a comparison of meta- and mega-analyses in the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study. | Kuang A et al. | β | 2025 | β |
| Multi-ancestry genome-wide association analyses of polycystic ovary syndrome. | Zhao H et al. | β | 2025 | β |
| Multi-ancestry genome-wide association meta-analysis of buprenorphine treatment response. | Davis CN et al. | β | 2025 | β |
| Multi-ancestry genome-wide association study of topiramate's effects on heavy alcohol use. | Davis CN et al. | β | 2025 | β |
| 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. | β | 2025 | β |
| Multi-ancestry meta-analysis identifies genetic modifiers of age-at-onset of Alzheimer's disease at known and novel loci. | Blue EE et al. | β | 2025 | β |
| MultiCook: A Tool That Improves Accuracy of HLA Imputation by Combining Probabilities From Multiple Reference Panels and Methods. | Kim H et al. | β | 2025 | β |
| Multi-omic integration sets the path for early prevention strategies on healthy individuals. | Kioroglou D et al. | β | 2025 | β |
| Multi-omics analysis in primary T cells elucidates mechanisms behind disease-associated genetic loci. | Shi C et al. | β | 2025 | β |
| Multi-omics mediation pipeline reveals differential pathways of maternal SNPs affecting newborn adiposity outcomes. | Gill NP et al. | β | 2025 | β |
| Multi-task learning identifies shared genetic risk for late-onset epilepsy and alzheimer's disease. | Fu M et al. | β | 2025 | β |
| Multi-tissue transcriptome-wide association study identifies novel candidate genes and pleiotropy effects across four abdominal hernia subtypes. | Chaar DL et al. | β | 2025 | β |
| Mutations in the bone morphogenetic protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations. | Klem JR et al. | β | 2025 | β |
| Myeloid cell genome-wide screen identifies variants associated with Mycobacterium tuberculosis-induced cytokine transcriptional responses. | Ivie JJ et al. | β | 2025 | β |
| Natural selection and adaptive traits in the Maniq, a nomadic hunter-gatherer society from Mainland Southeast Asia. | Herzog T et al. | β | 2025 | β |
| Neurite density but not myelination of specific fiber tracts links polygenic scores to general intelligence. | Stammen C et al. | β | 2025 | β |
| Neuroimaging-derived biological brain age and its associations with glial reactivity and synaptic dysfunction cerebrospinal fluid biomarkers. | Cumplido-Mayoral I et al. | β | 2025 | β |
| Non-coding genetic variants underlying higher prostate cancer risk in men of African ancestry. | Li S et al. | β | 2025 | β |
| Novel genetic associations with childhood adipocytokines in Indian adolescents. | Nair JM et al. | β | 2025 | β |
| Novel genetic loci and functional properties of immune-related genes for colorectal cancer survival in Korea. | Yun D et al. | β | 2025 | β |
| Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer's disease. | Phillips JM et al. | β | 2025 | β |
| Novel treatment-specific causal biomarkers for colorectal cancer by omics integration. | Yazdani A et al. | β | 2025 | β |
| Obstructive sleep apnea mediates genetic risk of Diabetes Mellitus in Hispanic and Latino communities. | Hrytsenko Y et al. | β | 2025 | β |
| Occupational pesticide use and relative leukocyte telomere length in the biomarkers of exposure and effect in agriculture study. | Erickson PA et al. | β | 2025 | β |
| Omilayers: a Python package for efficient data management to support multi-omic analysis. | Kioroglou D | β | 2025 | β |
| Parent-of-origin effects in the life-course evolution of cardiometabolic traits. | Wagh R et al. | β | 2025 | β |
| Persisting plasma proinsulin levels in a cohort of 482 individuals with long-standing type 1 diabetes mellitus. | de Wit DF et al. | β | 2025 | β |
| Pharmacogenetic study of antipsychotic-induced lipid and BMI changes in Chinese schizophrenia patients: A Genome-Wide Association Study. | Wong KC et al. | β | 2025 | β |
| Pharmacogenomics of chemotherapy induced peripheral neuropathy using an electronic health record-derived definition: a genome-wide association study. | Jones MK et al. | β | 2025 | β |
| Pharmacogenomics of the Etonogestrel Contraceptive Implant: A Genome-Wide Association Study of Steady-State Etonogestrel Concentrations. | Lazorwitz A et al. | β | 2025 | β |
| Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies. | Ellis CA et al. | β | 2025 | β |
| PIGEON: a statistical framework for estimating gene-environment interaction for polygenic traits. | Miao J et al. | β | 2025 | β |
| Plasma pTau181 and amyloid markers predict conversion to dementia in idiopathic REM sleep behaviour disorder. | Delva A et al. | β | 2025 | β |
| Polygenic and developmental profiles of autism differ by age at diagnosis. | Zhang X et al. | β | 2025 | β |
| Polygenic associations with clinical and neuropathological trait heterogeneity across TDP-43 proteinopathies. | Spencer BE et al. | β | 2025 | β |
| Polygenic pathways shape white matter vulnerability to Alzheimer's disease-related pathophysiological changes. | Tranfa M et al. | β | 2025 | β |
| Polygenic prediction of cellular immune responses to mumps vaccine. | Coombes BJ et al. | β | 2025 | β |
| Polygenic risk and childhood adversity as moderators of drug and alcohol withdrawal symptoms. | Han A et al. | β | 2025 | β |
| Polygenic risk, aspirin, and primary prevention of coronary artery disease. | Yu C et al. | β | 2025 | β |
| Polygenic risk for white matter hyperintensities is associated with early cerebrovascular events partly through hemodynamic measures in cognitively unimpaired middle-aged and older adults with low cardiovascular risk. | Genius P et al. | β | 2025 | β |
| Polygenic risk of idiopathic pulmonary fibrosis and COVID-19 severity. | Guillen-Guio B et al. | β | 2025 | β |
| Polygenic Risk Score as a Predictor of Bone Fracture or Osteoporosis in Prostate Cancer Patients Receiving Androgen Deprivation Therapy. | Liu YQ et al. | β | 2025 | β |
| Polygenic Risk Score for Coronary Artery Disease Across the Spectrum of Atherosclerotic Disease. | Zimerman A et al. | β | 2025 | β |
| Polygenic risk score for type 2 diabetes shows context-dependent effects across populations. | Guo B et al. | β | 2025 | β |
| Polygenic risk score of Alzheimer's disease is associated with cognitive trajectories and phenotypes of cerebral organoids. | Chun MY et al. | β | 2025 | β |
| Polygenic risk score of glycemic homeostasis, Type 2 Diabetes Mellitus and glycemic components in first episode psychosis. | Segura AG et al. | β | 2025 | β |
| 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. | β | 2025 | β |
| Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future. | Kramarenko DR et al. | β | 2025 | β |
| Polygenic scores and social determinants of health: Their correlations and potential biases. | Schaid DJ et al. | β | 2025 | β |
| Polygenic scores and symptom severity change after internet-delivered cognitive behaviour therapy for depression and anxiety. | BΓ€ckman J et al. | β | 2025 | β |
| Polygenic scores and their applications in kidney disease. | Khan A et al. | β | 2025 | β |
| Polymorphisms within autophagy-related genes as susceptibility biomarkers for pancreatic cancer: A meta-analysis of three large European cohorts and functional characterization. | GΓ‘lvez-Montosa F et al. | β | 2025 | β |
| Potentially causal associations between placental DNA methylation and schizophrenia and other neuropsychiatric disorders. | Cilleros-Portet A et al. | β | 2025 | β |
| Predicted plasma proteomics from genetic scores and treatment outcomes in major depression: a meta-analysis. | Oliva V et al. | β | 2025 | β |
| Prediction of Extraintestinal Manifestations in Inflammatory Bowel Disease Using Clinical and Genetic Variables with Machine Learning in a Latin IBD Group. | PΓ©rez-Jeldres T et al. | β | 2025 | β |
| Prediction of metabolic subphenotypes of type 2 diabetes via continuous glucose monitoring and machine learning. | Metwally AA et al. | β | 2025 | β |
| Predictive capabilities of polygenic scores in an East-Asian population-based cohort: the Singapore Chinese health study. | Chang X et al. | β | 2025 | β |
| Predictive performance for alcohol use disorder of polygenic scores based on the general addiction risk factor and problematic alcohol use. | PΓ©rez-GutiΓ©rrez AM et al. | β | 2025 | β |
| Prevalence of Actionable Exposures to Pharmacogenetic Medications Among Solid Organ Transplant Recipients in a Population-Scale Biobank. | Radwan A et al. | β | 2025 | β |
| Proxy panels enable privacy-aware outsourcing of genotype imputation. | Zhi D et al. | β | 2025 | β |
| PTPN2 and Leukopenia in Individuals With Normal TPMT and NUDT15 Metabolizer Status Taking Azathioprine. | Daniel LL et al. | β | 2025 | β |
| RAB19, SERPINB9P1, and Pancreatitis in Patients Taking Azathioprine in Routine Clinical Practice: Genome and Transcriptome-Wide Association Studies. | Shah SC et al. | β | 2025 | β |
| RAMEN: Dissecting individual, additive and interactive gene-environment contributions to DNA methylome variability in cord blood. | Navarro-Delgado EI et al. | β | 2025 | β |
| Rare and low-frequency variants in families with otitis media. | Santos-Cortez RLP et al. | β | 2025 | β |
| Refining Criteria for a Neurodevelopmental Subphenotype of Bipolar Disorders: AΒ FondaMental Advanced Centers of Expertise for Bipolar Disorders Study. | Lefrere A et al. | β | 2025 | β |
| Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data. | Gaviria-Sabogal CC et al. | β | 2025 | β |
| Regulatory polymorphisms of <i>MSH6</i>, <i>MSH2</i>, <i>FBXO11,</i> and <i>PPP1R21</i> genes affect survival of patients with immunotherapy-treated lung cancer. | Esposito M et al. | β | 2025 | β |
| Response eQTLs, chromatin accessibility, and 3D chromatin structure in chondrocytes provide mechanistic insight into osteoarthritis risk. | Kramer NE et al. | β | 2025 | β |
| Response splicing quantitative trait loci in primary human chondrocytes identify putative osteoarthritis risk genes. | Byun S et al. | β | 2025 | β |
| Risk factors for Alzheimer's disease and cognitive function before middle age in a U.S. representative population-based study. | Aiello AE et al. | β | 2025 | β |
| Risk of aggressive prostate cancer with successive generations in the US among Latino men. | Chen F et al. | β | 2025 | β |
| Role of genetic modifiers on pulmonary consequences of cancer therapy in children. | Dobkin SL et al. | β | 2025 | β |
| rs762855 single nucleotide polymorphism modulates the risk for diffuse-type gastric cancer in females: a genome-wide association study in the Korean population. | Park K et al. | β | 2025 | β |
| Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity. | Hernangomez-Laderas A et al. | β | 2025 | β |
| Schizotypy, Psychosis Proneness, and the Polygenic Risk for Schizophrenia and Resilience. | Meller T et al. | β | 2025 | β |
| Secure phasing of private genomes in a trusted execution environment with TX-Phase. | Dokmai N et al. | β | 2025 | β |
| Selective sweeps for mutations increasing height impede identification of causative mutations for fertility and other correlated traits in cattle. | Forutan M et al. | β | 2025 | β |
| Severe COVID-19 disease is associated with genetic factors affecting plasma ACE2 receptor and CRP concentrations. | Vogi V et al. | β | 2025 | β |
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| Sex dependent genetic architecture of biochemically verified tobacco use. | Chenoweth MJ et al. | β | 2025 | β |
| Sex-specific association between schizophrenia polygenic risk and subclinical schizophrenia-related traits. | Mas-Bermejo P et al. | β | 2025 | β |
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| Single-cell analysis of cerebrospinal fluid reveals common features of neuroinflammation. | Jacobs BM et al. | β | 2025 | β |
| Single-cell DNA methylome and 3D genome atlas of human subcutaneous adipose tissue. | Chen ZJ et al. | β | 2025 | β |
| Single-cell eQTL Mapping Reveals Cell Subtype-specific Genetic Control and Mechanism in Malignant Transformation of Colorectal Cancer. | Chen C et al. | β | 2025 | β |
| SNP associations in the L-citrulline metabolic pathway and vascular aging in the Japanese population. | Nogimura D et al. | β | 2025 | β |
| Somatic and Stem Cell Bank to study the contribution of African ancestry to dementia: African iPSC Initiative. | Maina MB et al. | β | 2025 | β |
| STICI: Split-Transformer with integrated convolutions for genotype imputation. | Mowlaei ME et al. | β | 2025 | β |
| Strength of Genetic Associations with Thyrotropin Values Differs Between Populations with Similarity to African and European Reference Populations. | Wade AN et al. | β | 2025 | β |
| SURFBAT: a surrogate family based association test building on large imputation reference panels. | Herzig AF et al. | β | 2025 | β |
| Systematic mediation and interaction analyses of kidney function genetic loci in a general population study. | Ghasemi-Semeskandeh D et al. | β | 2025 | β |
| The Beta-Blocker Pharmacogenetic Puzzle: More Pieces of Evidence for Pharmacodynamic Candidate Variants. | Luzum JA et al. | β | 2025 | β |
| The contribution of gametic phase disequilibrium to the heritability of complex traits. | Zhang Y et al. | β | 2025 | β |
| The e-BRAVE study: A prospective web-based cohort and biobank of women carriers of BRCA mutations. | Oliverio A et al. | β | 2025 | β |
| The Germline and Somatic Origins of Prostate Cancer Heterogeneity. | Yamaguchi TN et al. | β | 2025 | β |
| The gut microbiome associated with LGI1-antibody encephalitis. | Gilbert E et al. | β | 2025 | β |
| The impact of genetic ancestry on survival outcomes in pediatric rhabdomyosarcoma: A report from the Children's Oncology Group. | Onwuka EA et al. | β | 2025 | β |
| The influence of fetal sex on maternal blood pressure in pregnancy. | Decina CS et al. | β | 2025 | β |
| The Moderating Role of Genetic and Environmental Risk Factors for Schizophrenia on the Relationship between Autistic Traits and Psychosis Expression in the General Population. | Karacam Dogan M et al. | β | 2025 | β |
| The Role of Menopause and Its Association with the Apolipoprotein E4 Allele for Age at Diagnosis of Glaucoma in Women. | Shi Y et al. | β | 2025 | β |
| The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis. | Bsteh G et al. | β | 2025 | β |
| The trajectory of attention deficit hyperactivity disorder symptoms and its dynamic relationship with inhibitory control. | Pang T et al. | β | 2025 | β |
| ti-scMR: trajectory-inference-based dynamic single-cell Mendelian randomization identifies causal genes underlying phenotypic differences. | Sun J et al. | β | 2025 | β |
| TLR4 downregulation protects against cisplatin-induced ototoxicity in adult and pediatric patients with cancer. | Lee JJW et al. | β | 2025 | β |
| Towards IBD Prediction and Prevention: The Contribution of Genetics and Genomics. | Kugathasan S et al. | β | 2025 | β |
| Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies. | Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium. Electronic address: andrew.mcintosh@ed.ac.uk et al. | β | 2025 | β |
| Transcriptional impacts of substance use disorder and HIV on human ventral midbrain neurons and microglia. | Wilson AM et al. | β | 2025 | β |
| Transcriptome-wide association study identifies genes associated with bladder cancer risk. | Li S et al. | β | 2025 | β |
| Transcriptomics and eQTLs reveal inflammatory heterogeneity in the duodenal lining in coeliac disease. | RamΓrez-SΓ‘nchez AD et al. | β | 2025 | β |
| Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus. | Freimann K et al. | β | 2025 | β |
| Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations. | Nicolas A et al. | β | 2025 | β |
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| Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes. | Luckett AM et al. | β | 2025 | β |
| Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care. | Kreienkamp RJ et al. | β | 2025 | β |
| Type 2 diabetes pathway-specific polygenic risk scores elucidate heterogeneity in clinical presentation, disease progression and diabetic complications in 18,217 Chinese individuals with type 2 diabetes. | Yu G et al. | β | 2025 | β |
| UDA-seq: universal droplet microfluidics-based combinatorial indexing for massive-scale multimodal single-cell sequencing. | Li Y et al. | β | 2025 | β |
| Uncovering genetic diversity and admixture of British Africans with HLA alleles inferred from whole genome sequencing. | Liu Y et al. | β | 2025 | β |
| Uncovering the genetic architecture and evolutionary roots of androgenetic alopecia in African men. | Janivara R et al. | β | 2025 | β |
| Unravelling the genetic architecture of inflammatory bowel disease multiplex families with rare and common variant polygenic risk scores. | Jans DS et al. | β | 2025 | β |
| Unveiling Novel Traits Associated with Ulcerative Colitis via Phenome-Wide Associations Enhanced by Polygenic Risk Statistics. | Wu Y et al. | β | 2025 | β |
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| Using genotype imputation to integrate Canola populations for genome-wide association and genomic prediction of blackleg resistance. | Zhao H et al. | β | 2025 | β |
| Using machine learning and single nucleotide polymorphisms for improving rheumatoid arthritis risk Prediction in postmenopausal women. | Xu Y et al. | β | 2025 | β |
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| Utilizing polygenic risk score for breast cancer risk prediction in a Taiwanese population. | Lin YH et al. | β | 2025 | β |
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| Variants in the Ξ²-globin locus are associated with pneumonia in African American children. | Halligan NLN et al. | β | 2025 | β |
| VEGF-A cis-located SNPs on human chromosome 6 associated with VEGF-A plasma levels and survival in a coronary disease cohort. | Meza-Alvarado JC et al. | β | 2025 | β |
| VLDL lipidomics reveals hepatocellular lipidome changes in metabolic dysfunction-associated steatotic liver disease. | Guardamino Ojeda D et al. | β | 2025 | β |
| weIMPUTE: a user-friendly web-based genotype imputation platform. | Li M et al. | β | 2025 | β |
| WES-Based Screening of a Swedish Patient Series with Parkinson's Disease. | Kafantari E et al. | β | 2025 | β |
| Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract. | Chaar DL et al. | β | 2025 | β |
| Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity. | Heng TH et al. | β | 2025 | β |
| Worldwide study of the taste of bitter medicines and their modifiers. | Nguyen H et al. | β | 2025 | β |
| X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies. | Shriner D et al. | β | 2025 | β |
| Accelerating Heritability, Genetic Correlation, and Genome-Wide Association Imaging Genetic Analyses in Complex Pedigrees. | Donohue B et al. | β | 2024 | β |
| A comprehensive genetic map of cytokine responses in Lyme borreliosis. | Botey-Bataller J et al. | β | 2024 | β |
| A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure. | GuzmΓ‘n-JimΓ©nez A et al. | β | 2024 | β |
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| Adult Onset Foveomacular Vitelliform Dystrophy Shows Genetic Overlap With Age-Related Macular Degeneration. | Jaskoll S et al. | β | 2024 | β |
| A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death. | Minnai F et al. | β | 2024 | β |
| A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals. | Ito S et al. | β | 2024 | β |
| A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children. | Lin YP et al. | β | 2024 | β |
| A Genome-Wide Association Study of Oxypurinol Concentrations in Patients Treated with Allopurinol. | Meloche M et al. | β | 2024 | β |
| A Genome-Wide Association Study of Serum Metabolite Profiles in Septic Shock Patients. | Daubney ER et al. | β | 2024 | β |
| A genome-wide Association study of the Count of Codeine prescriptions. | Song W et al. | β | 2024 | β |
| A genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans. | Moksnes MR et al. | β | 2024 | β |
| A Genome-Wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome. | Casares-Marfil D et al. | β | 2024 | β |
| A genome-wide investigation into the underlying genetic architecture of personality traits and overlap with psychopathology. | Gupta P et al. | β | 2024 | β |
| A genome-wide meta-analysis of palmoplantar pustulosis implicates T<sub>H</sub>2 responses and cigarette smoking in disease pathogenesis. | Hernandez-Cordero A et al. | β | 2024 | β |
| A genotype imputation reference panel specific for native Southeast Asian populations. | Cengnata A et al. | β | 2024 | β |
| Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone. | Dunn ME et al. | β | 2024 | β |
| Alzheimer's disease genetic pathways impact cerebrospinal fluid biomarkers and imaging endophenotypes in non-demented individuals. | Lorenzini L et al. | β | 2024 | β |
| A Mendelian randomization study of alcohol use and cardiometabolic disease risk in a multi-ancestry population from the Million Veteran Program. | Kember RL et al. | β | 2024 | β |
| A multi-ancestry genetic study of pain intensity in 598,339 veterans. | Toikumo S et al. | β | 2024 | β |
| A multi-ancestry genome-wide association study in type 1 diabetes. | Michalek DA et al. | β | 2024 | β |
| A multivariate to multivariate approach for voxel-wise genome-wide association analysis. | Wu Q et al. | β | 2024 | β |
| An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns. | Deal M et al. | β | 2024 | β |
| Analysis of gene expression in the postmortem brain of neurotypical Black Americans reveals contributions of genetic ancestry. | Benjamin KJM et al. | β | 2024 | β |
| Ancestry Specific Polygenic Risk Score, Dietary Patterns, Physical Activity, and Cardiovascular Disease. | Hardy DS et al. | β | 2024 | β |
| An Integrative Migraine Polygenic Risk Score Is Associated with Age at Onset But Not Chronification. | Chase BA et al. | β | 2024 | β |
| A novel GWAS locus influences microvascular response to mental stress and predicts adverse cardiovascular events. | Almuwaqqat Z et al. | β | 2024 | β |
| An overview of recent technological developments in bovine genomics. | Ghavi Hossein-Zadeh N | β | 2024 | β |
| A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry. | Schwantes-An TH et al. | β | 2024 | β |
| Application of polygenic scores to a deeply phenotyped sample enriched for substance use disorders reveals extensive pleiotropy with psychiatric and somatic traits. | Hartwell EE et al. | β | 2024 | β |
| Association between genetic risk and adherence to healthy lifestyle for developing age-related hearing loss. | Jung SH et al. | β | 2024 | β |
| Association between high-density lipoprotein and functional outcome of ischemic stroke patients in a Taiwanese population. | Lin TC et al. | β | 2024 | β |
| Association between the Taq1A polymorphism and problematic media use in preadolescent children. | Emond JA et al. | β | 2024 | β |
| Association of genetic variation in <i>COL11A1</i> with adolescent idiopathic scoliosis. | Yu H et al. | β | 2024 | β |
| Association of Polygenic Risk Score With Lifetime Risk of Developing Multiple Sclerosis in a Population-Based Birth-Year Cohort. | Loonstra FC et al. | β | 2024 | β |
| Associations between diabetes-related genetic risk scores and residual beta cell function in type 1 diabetes: the GUTDM1 study. | Fuhri Snethlage CM et al. | β | 2024 | β |
| Associations of dinitroaniline herbicide exposure, genetic susceptibility, and lifestyle with glucose dysregulation: A gene-environment interaction study from the Wuhan-Zhuhai cohort. | Zhang J et al. | β | 2024 | β |
| A study of genetic variants associated with skin traits in the Vietnamese population. | Hoang TH et al. | β | 2024 | β |
| Balancing the efforts of chart review and gains in PRS prediction accuracy: An empirical study. | Lei Y et al. | β | 2024 | β |
| Biobank-wide association scan identifies risk factors for late-onset Alzheimer's disease and endophenotypes. | Yan D et al. | β | 2024 | β |
| Blood-based multivariate methylation risk score for cognitive impairment and dementia. | Koetsier J et al. | β | 2024 | β |
| Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses. | Ojima T et al. | β | 2024 | β |
| Bone health index in the assessment of bone health: The Generation R Study. | Prijatelj V et al. | β | 2024 | β |
| Calcium intake and genetic variants in the calcium sensing receptor in relation to colorectal cancer mortality: an international consortium study of 18,952 patients. | Wesselink E et al. | β | 2024 | β |
| Cerebral Amyloidosis in Individuals with Subjective Cognitive Decline: From Genetic Predisposition to Actual Cerebrospinal Fluid Measurements. | Sampatakakis SN et al. | β | 2024 | β |
| Characterization of the genetic determinants of context-specific DNA methylation in primary monocytes. | Gilchrist JJ et al. | β | 2024 | β |
| Chromosome X-wide association study in case control studies of pathologically confirmed Alzheimer's disease in a European population. | Simmonds E et al. | β | 2024 | β |
| Circulating Blood Plasma Profiling Reveals Proteomic Signature and a Causal Role for SVEP1 in Sudden Cardiac Death. | Duong T et al. | β | 2024 | β |
| Clinical and genetic contributions to medical comorbidity in bipolar disorder: a study using electronic health records-linked biobank data. | Sanchez-Ruiz JA et al. | β | 2024 | β |
| Clinical application of sparse canonical correlation analysis to detect genetic associations with cortical thickness in Alzheimer's disease. | Kim BH et al. | β | 2024 | β |
| Clinical effects of CYP2D6 phenoconversion in patients with psychosis. | De Brabander EY et al. | β | 2024 | β |
| Clonal associations between lymphocyte subsets and functional states in rheumatoid arthritis synovium. | Dunlap G et al. | β | 2024 | β |
| Cognitive Polygenic Index is Associated with Occupational Complexity over and above Brain Morphometry. | Tsapanou A et al. | β | 2024 | β |
| Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss. | Sonehara K et al. | β | 2024 | β |
| Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex. | Richard MA et al. | β | 2024 | β |
| Common polygenic variation in the early medication change (EMC) cohort affects disorder risk, but not the antidepressant treatment response. | MΓΌller S et al. | β | 2024 | β |
| Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants. | Qiao L et al. | β | 2024 | β |
| Comparison of subjective cognitive decline and polygenic risk score in the prediction of all-cause dementia, Alzheimer's disease and vascular dementia. | Trares K et al. | β | 2024 | β |
| Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. | Smail C et al. | β | 2024 | β |
| Comprehensive Evaluation of the Genetic Basis of Keratoconus: New Perspectives for Clinical Translation. | CervΓ‘n-MartΓn M et al. | β | 2024 | β |
| Computational methods for allele-specific expression in single cells. | Qi G et al. | β | 2024 | β |
| Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia. | Reus LM et al. | β | 2024 | β |
| Construction of the porcine genome mobile element variations and investigation of its role in population diversity and gene expression. | Hu J et al. | β | 2024 | β |
| Corpora amylacea negatively correlate with hippocampal tau pathology in Alzheimer's disease. | Dallmeier JD et al. | β | 2024 | β |
| Correlates of suicidal behaviors and genetic risk among United States veterans with schizophrenia or bipolar I disorder. | Bigdeli TB et al. | β | 2024 | β |
| Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain. | Wen C et al. | β | 2024 | β |
| Cross-continental environmental and genome-wide association study on children and adolescent anxiety and depression. | Thapaliya B et al. | β | 2024 | β |
| CSF glial biomarkers are associated with cognition in individuals at risk of Alzheimer's disease. | Warmenhoven N et al. | β | 2024 | β |
| Deep learning for genomic selection of aquatic animals. | Wang Y et al. | β | 2024 | β |
| Dementias Platform UK: Bringing genetics into life. | Leonenko G et al. | β | 2024 | β |
| Detecting time-varying genetic effects in Alzheimer's disease using a longitudinal genome-wide association studies model. | Zhuang X et al. | β | 2024 | β |
| Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome. | Lancaster MC et al. | β | 2024 | β |
| Determinants of gastric cancer immune escape identified from non-coding immune-landscape quantitative trait loci. | Miliotis C et al. | β | 2024 | β |
| Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip. | Gan P et al. | β | 2024 | β |
| Development of MAPT S305 mutation human iPSC lines exhibiting elevated 4R tau expression and functional alterations in neurons and astrocytes. | Bowles KR et al. | β | 2024 | β |
| Disentangling heterogeneity in substance use disorder: Insights from genome-wide polygenic scores. | Vilar-RibΓ³ L et al. | β | 2024 | β |
| Disentangling the heterogeneity of multiple sclerosis through identification of independent neuropathological dimensions. | de Boer A et al. | β | 2024 | β |
| Disparities in ABO blood type determination across diverse ancestries: a systematic review and validation in the All of Us Research Program. | Martinez KL et al. | β | 2024 | β |
| Dissecting the polygenic contribution of attention-deficit/hyperactivity disorder and autism spectrum disorder on school performance by their relationship with educational attainment. | Cabana-DomΓnguez J et al. | β | 2024 | β |
| Divergent role of Mitochondrial Amidoxime Reducing Component 1 (MARC1) in human and mouse. | Smagris E et al. | β | 2024 | β |
| Does Thrombosis Play a Causal Role in Lacunar Stroke and Cerebral Small Vessel Disease? | Koohi F et al. | β | 2024 | β |
| Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participants. | Rahman MS et al. | β | 2024 | β |
| Effects of polygenic risk score and sodium and potassium intake on hypertension in Asians: A nationwide prospective cohort study. | Bae E et al. | β | 2024 | β |
| Effects of reference population size and structure on genomic prediction of maternal traits in two pig lines using whole-genome sequence-, high-density- and combined annotation-dependent depletion genotypes. | KjetsΓ₯ MV et al. | β | 2024 | β |
| Eight quick tips for including chromosome X in genome-wide association studies. | Bellavance J et al. | β | 2024 | β |
| El Hierro Genome Study: A Genomic and Health Study in an Isolated Canary Island Population. | Puga M et al. | β | 2024 | β |
| Empirical versus estimated accuracy of imputation: optimising filtering thresholds for sequence imputation. | Nguyen TV et al. | β | 2024 | β |
| Epigenome-wide association study on the plasma metabolome suggests self-regulation of the glycine and serine pathway through DNA methylation. | Wu J et al. | β | 2024 | β |
| Examining the role of common variants in rare neurodevelopmental conditions. | Huang QQ et al. | β | 2024 | β |
| Exploratory study of cold hypersensitivity in Japanese women: genetic associations and somatic symptom burden. | Wu X et al. | β | 2024 | β |
| Exploring causal effects of sarcopenia on risk and progression of Parkinson disease by Mendelian randomization. | Wang T et al. | β | 2024 | β |
| Exploring the intersection of polygenic risk scores and prenatal alcohol exposure: Unraveling the mental health equation. | Gerlikhman L et al. | β | 2024 | β |
| Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts. | GarzΓ³n RodrΓguez N et al. | β | 2024 | β |
| Expression quantitative trait loci influence DNA damage-induced apoptosis in cancer. | Bigge J et al. | β | 2024 | β |
| GAUSS: a summary-statistics-based R package for accurate estimation of linkage disequilibrium for variants, Gaussian imputation, and TWAS analysis of cosmopolitan cohorts. | Lee D et al. | β | 2024 | β |
| Gene-environment pathways to cognitive intelligence and psychotic-like experiences in children. | Park J et al. | β | 2024 | β |
| Gene expression imputation provides clinical and biological insights into treatment-resistant schizophrenia polygenic risk. | Prohens L et al. | β | 2024 | β |
| Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease. | Malik R et al. | β | 2024 | β |
| Genetic Analysis of Perceived Youthfulness Reveals Differences in How Men's and Women's Age Is Assessed. | Ingold N et al. | β | 2024 | β |
| Genetic analysis of selection bias in a natural experiment: Investigating in-utero famine effects on elevated body mass index in the Dutch Hunger Winter Families Study. | Zhou J et al. | β | 2024 | β |
| Genetic and non-genetic predictors of risk for opioid dependence. | Na PJ et al. | β | 2024 | β |
| Genetic architecture distinguishes tinnitus from hearing loss. | Clifford RE et al. | β | 2024 | β |
| Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people. | Koyanagi YN et al. | β | 2024 | β |
| Genetic architecture of oral glucose-stimulated insulin release provides biological insights into type 2 diabetes aetiology. | Madsen AL et al. | β | 2024 | β |
| Genetic associations of cardiovascular risk genes in European patients with coronary artery spasm. | Tremmel R et al. | β | 2024 | β |
| Genetic association study of preterm birth and gestational age in a population-based case-control study in Peru. | Juvinao-Quintero DL et al. | β | 2024 | β |
| Genetic associations with neural reward responsivity to food cues in children. | Yeum D et al. | β | 2024 | β |
| Genetic contribution to the comorbidity between attention-deficit/hyperactivity disorder and substance use disorders. | Koller D et al. | β | 2024 | β |
| Genetic determinants of serum bilirubin using inferred native American gene variants in Chilean adolescents. | Miranda JP et al. | β | 2024 | β |
| Genetic drivers of human plasma metabolites that determine mortality in heart failure patients with reduced ejection fraction. | Revathi Venkateswaran V et al. | β | 2024 | β |
| Genetic imputation of kidney transcriptome, proteome and multi-omics illuminates new blood pressure and hypertension targets. | Xu X et al. | β | 2024 | β |
| Genetic polymorphisms associated with adverse pregnancy outcomes in nulliparas. | Khan RR et al. | β | 2024 | β |
| Genetic predictors of blood pressure traits are associated with preeclampsia. | Jasper EA et al. | β | 2024 | β |
| Genetic Predisposition for White Matter Hyperintensities and Risk of Mild Cognitive Impairment and Alzheimer's Disease: Results from the HELIAD Study. | Sampatakakis SN et al. | β | 2024 | β |
| Genetic risk factors for Mesoamerican nephropathy. | Friedman DJ et al. | β | 2024 | β |
| Genetic risk impacts the association of menopausal hormone therapy with colorectal cancer risk. | Tian Y et al. | β | 2024 | β |
| Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals. | Akiyama M et al. | β | 2024 | β |
| Genetics of glucose homeostasis in pregnancy and postpartum. | Lowe WL et al. | β | 2024 | β |
| Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas. | Borda V et al. | β | 2024 | β |
| Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes. | Farrell K et al. | β | 2024 | β |
| Genetic variants in canonical Wnt signaling pathway associated with pediatric immune thrombocytopenia. | Kim TO et al. | β | 2024 | β |
| Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. | Keaton JM et al. | β | 2024 | β |
| Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts. | Li S et al. | β | 2024 | β |
| Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries. | Gorman BR et al. | β | 2024 | β |
| Genome-Wide Association Analysis Identifies LILRB2 Gene for Pathological Myopia. | Jiang L et al. | β | 2024 | β |
| Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment. | Lenk HΓ et al. | β | 2024 | β |
| Genome-wide association and expression quantitative trait loci in cattle reveals common genes regulating mammalian fertility. | Forutan M et al. | β | 2024 | β |
| Genome-wide association and functional genomic analyses for body conformation traits in North American Holstein cattle. | Sousa Junior LPB et al. | β | 2024 | β |
| Genome-wide association identifies novel ROP risk loci in a multiethnic cohort. | Li X et al. | β | 2024 | β |
| Genome-wide association meta-analysis identifies two novel loci associated with dental caries. | Nogawa S et al. | β | 2024 | β |
| Genome-wide association reveals a locus in neuregulin 3 associated with gabapentin efficacy in women with chronic pelvic pain. | Mackenzie SC et al. | β | 2024 | β |
| Genome-wide association studies for pelvic organ prolapse in the Japanese population. | Matsunami M et al. | β | 2024 | β |
| Genome-Wide Association Studies of 3 Distinct Recovery Phenotypes in Mild Ischemic Stroke. | Aldridge CM et al. | β | 2024 | β |
| Genome-wide association study identifies genetic regulation of oestrone concentrations and association with endometrial cancer risk in postmenopausal women. | Yu C et al. | β | 2024 | β |
| Genome-wide association study identifies host genetic variants influencing oral microbiota diversity and metabolic health. | Stankevic E et al. | β | 2024 | β |
| Genome-Wide Association Study Identifies Pharmacogenomic Variants Associated With Metformin Glycemic Response in African American Patients With Type 2 Diabetes. | Wu B et al. | β | 2024 | β |
| Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population. | Park K et al. | β | 2024 | β |
| Genome wide association study of clinical duration and age at onset of sporadic CJD. | Hummerich H et al. | β | 2024 | β |
| Genome-wide association study of hospitalized patients and acute kidney injury. | Siew ED et al. | β | 2024 | β |
| Genome-wide association study on meningioma risk in Japan: a multicenter prospective study. | Yamada S et al. | β | 2024 | β |
| Genome-Wide Association Study Reveals Quantitative Trait Loci and Candidate Genes Associated with High Interferon-gamma Production in Holstein Cattle Naturally Infected with <i>Mycobacterium Bovis</i>. | Badia-BringuΓ© G et al. | β | 2024 | β |
| Genome-Wide Association Study with Three Control Cohorts of Japanese Patients with Esotropia and Exotropia of Comitant Strabismus and Idiopathic Superior Oblique Muscle Palsy. | Matsuo T et al. | β | 2024 | β |
| Genome-Wide Gene-Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk. | Stern MC et al. | β | 2024 | β |
| Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer. | Papadimitriou N et al. | β | 2024 | β |
| Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction. | Braun A et al. | β | 2024 | β |
| Genome-wide study identifies novel genes associated with bone toxicities in children with acute lymphoblastic leukaemia. | Zhu Q et al. | β | 2024 | β |
| Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome. | AkΓ§imen F et al. | β | 2024 | β |
| Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries. | GarcΓa-MarΓn LM et al. | β | 2024 | β |
| Genomic evaluation of residual feed intake in US Holstein cows: insights into lifetime feed efficiency. | Khanal P et al. | β | 2024 | β |
| Genotype imputation in human genomic studies. | Berdnikova AA et al. | β | 2024 | β |
| Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology. | Naito T et al. | β | 2024 | β |
| Germline genetic regulation of the colorectal tumor immune microenvironment. | Schmit SL et al. | β | 2024 | β |
| Germline Polymorphisms Associated with Overall Survival in Lung Adenocarcinoma: Genome-Wide Analysis. | Minnai F et al. | β | 2024 | β |
| Gliovascular transcriptional perturbations in Alzheimer's disease reveal molecular mechanisms of blood brain barrier dysfunction. | Δ°Ε Γ et al. | β | 2024 | β |
| GRIEVOUS: your command-line general for resolving cross-dataset genotype inconsistencies. | Talwar JV et al. | β | 2024 | β |
| Gut microbial and human genetic signatures of inflammatory bowel disease increase risk of comorbid mental disorders. | Lee J et al. | β | 2024 | β |
| GWAS Identifies DPP6 as Risk Gene of Cognitive Decline in Parkinson's Disease. | Li C et al. | β | 2024 | β |
| GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia. | Shade LMP et al. | β | 2024 | β |
| GWAS reveals determinants of mobilization rate and dynamics of an active endogenous retrovirus of cattle. | Tang L et al. | β | 2024 | β |
| gwid: an R package and Shiny application for Genome-Wide analysis of IBD data. | Mahmoudiandehkordi S et al. | β | 2024 | β |
| HBI: a hierarchical Bayesian interaction model to estimate cell-type-specific methylation quantitative trait loci incorporating priors from cell-sorted bisulfite sequencing data. | Cheng Y et al. | β | 2024 | β |
| Hemochromatosis neural archetype reveals iron disruption in motor circuits. | Loughnan R et al. | β | 2024 | β |
| Heterogeneous genetic architectures of prostate cancer susceptibility in sub-Saharan Africa. | Janivara R et al. | β | 2024 | β |
| Higher Genetic Risk for Type 2 Diabetes Is Associated With a Faster Decline of Ξ²-Cell Function in an East Asian Population. | Lee H et al. | β | 2024 | β |
| HLA-DQA1*01:03 and DQB1*06:01 are risk factors for severe COVID-19 pneumonia. | Tanaka K et al. | β | 2024 | β |
| HLA-DRB1 is associated with cefaclor-induced immediate hypersensitivity. | Park SY et al. | β | 2024 | β |
| How local reference panels improve imputation in French populations. | Herzig AF et al. | β | 2024 | β |
| Human genetics and epigenetics of alcohol use disorder. | Zhou H et al. | β | 2024 | β |
| Human leukocyte antigen-DQA1*04:01 and rs2040406 variants are associated with elevated risk of childhood Burkitt lymphoma. | Liu Z et al. | β | 2024 | β |
| Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response. | Esposito M et al. | β | 2024 | β |
| Human milk oligosaccharides are associated with maternal genetics and respiratory health of human milk-fed children. | Ambalavanan A et al. | β | 2024 | β |
| Identification and correction for collider bias in a genome-wide association study of diabetes-related heart failure. | Sun YV et al. | β | 2024 | β |
| Identification of biomarkers and potential therapeutic targets for pancreatic cancer by proteomic analysis in two prospective cohorts. | Lyu J et al. | β | 2024 | β |
| Identification of blood metabolites associated with risk of Alzheimer's disease by integrating genomics and metabolomics data. | Liu S et al. | β | 2024 | β |
| Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts. | Shibata M et al. | β | 2024 | β |
| Identification of genetic variants associated with clinical features of sickle cell disease. | Tsukahara K et al. | β | 2024 | β |
| Identification of susceptibility loci and relevant cell type for IgA nephropathy in Han Chinese by integrative genome-wide analysis. | Li M et al. | β | 2024 | β |
| Imatinib treatment and longitudinal growth in pediatric patients with chronic myeloid leukemia: influence of demographic, pharmacological, and genetic factors in the German CML-PAED cohort. | Stiehler S et al. | β | 2024 | β |
| Immunogenetics of lithium response and psychiatric phenotypes in patients with bipolar disorder. | Herrera-Rivero M et al. | β | 2024 | β |
| Improving genetic risk modeling of dementia from real-world data in underrepresented populations. | Fu M et al. | β | 2024 | β |
| Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI. | Sun Q et al. | β | 2024 | β |
| Imputation accuracy across global human populations. | Cahoon JL et al. | β | 2024 | β |
| Imputation accuracy and carrier frequency of deleterious recessive defects in Australian dairy cattle. | van den Berg I et al. | β | 2024 | β |
| Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers. | Forer L et al. | β | 2024 | β |
| Individualized Dose-Response to Statins Associated with Cardiovascular Disease Outcomes. | Aggarwal SK et al. | β | 2024 | β |
| Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia. | Trinder M et al. | β | 2024 | β |
| Inherited polygenic effects on common hematological traits influence clonal selection on JAK2<sup>V617F</sup> and the development of myeloproliferative neoplasms. | Guo J et al. | β | 2024 | β |
| Integrated systematic functional screen and fine-mapping decipher the role and genetic regulation of RPS19 in colorectal cancer development. | Chen C et al. | β | 2024 | β |
| Integrating human endogenous retroviruses into transcriptome-wide association studies highlights novel risk factors for major psychiatric conditions. | Duarte RRR et al. | β | 2024 | β |
| Integration of expression QTLs with fine mapping via SuSiE. | Zhang X et al. | β | 2024 | β |
| Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions. | Dareng EO et al. | β | 2024 | β |
| Interindividual variation in ovarian reserve after gonadotoxic treatment in female childhood cancer survivorsΒ - a genome-wide association study: results from PanCareLIFE. | van der Perk MEM et al. | β | 2024 | β |
| Interplay between polygenic risk for mood disorders and stressful life events in bipolar disorder. | Hosang GM et al. | β | 2024 | β |
| Interplay between polygenic risk score and solar insolation: Implication for systemic lupus erythematosus diagnosis and pathogenesis. | Chen IC et al. | β | 2024 | β |
| Interpretable deep clustering survival machines for Alzheimer's disease subtype discovery. | Hou B et al. | β | 2024 | β |
| Interpretable GWAS by linking clinical phenotypes to quantifiable immune repertoire components. | Tan Y et al. | β | 2024 | β |
| Introducing field-programmable gate arrays in genotype phasing and imputation. | Wienbrandt L et al. | β | 2024 | β |
| Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders. | Wigdor EM et al. | β | 2024 | β |
| Investigation of the genetic aetiology of Lewy body diseases with and without dementia. | Wu LY et al. | β | 2024 | β |
| Joint genotype and ancestry analysis identify novel loci associated with atopic dermatitis in African American population. | Gautam Y et al. | β | 2024 | β |
| Landscape of TPMT and NUDT15 Pharmacogenetic Variation in a Cohort of Canadian Pediatric Inflammatory Bowel Disease Patients. | Kennedy AM et al. | β | 2024 | β |
| Liver eQTL meta-analysis illuminates potential molecular mechanisms of cardiometabolic traits. | Broadaway KA et al. | β | 2024 | β |
| Long-read sequencing for 29 immune cell subsets reveals disease-linked isoforms. | Inamo J et al. | β | 2024 | β |
| Machine Learning Models of Polygenic Risk for Enhanced Prediction of Alzheimer Disease Endophenotypes. | Gunter NB et al. | β | 2024 | β |
| MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric. | Sun Q et al. | β | 2024 | β |
| Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color. | Kim B et al. | β | 2024 | β |
| Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data. | Saez-Atienzar S et al. | β | 2024 | β |
| Meta-analysis of genome-wide association studies of stable warfarin dose in patients of African ancestry. | Asiimwe IG et al. | β | 2024 | β |
| Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias. | Weng LC et al. | β | 2024 | β |
| Metabolites Associated with Polygenic Risk of Breast Cancer. | Samuels E et al. | β | 2024 | β |
| Metabolomic and genetic architecture of gestational diabetes subtypes. | Lee K et al. | β | 2024 | β |
| MethylGenotyper: Accurate Estimation of SNP Genotypes and Genetic Relatedness from DNA Methylation Data. | Jiang Y et al. | β | 2024 | β |
| Mismatch negativity and polygenic risk scores for schizophrenia and bipolar disorder. | Pentz AB et al. | β | 2024 | β |
| Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants. | Castellini-PΓ©rez O et al. | β | 2024 | β |
| Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions. | Purdue MP et al. | β | 2024 | β |
| Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk. | Gorman BR et al. | β | 2024 | β |
| Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes. | Toikumo S et al. | β | 2024 | β |
| Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization. | Smith JL et al. | β | 2024 | β |
| Multiancestry transferability of a polygenic risk score for diverticulitis. | Ueland TE et al. | β | 2024 | β |
| Multimodal analysis of disease onset in Alzheimer's disease using Connectome, Molecular, and genetics data. | Oh S et al. | β | 2024 | β |
| Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases. | Chen M et al. | β | 2024 | β |
| Multiplex cerebrospinal fluid proteomics identifies biomarkers for diagnosis and prediction of Alzheimer's disease. | Guo Y et al. | β | 2024 | β |
| Multivariable Mendelian randomization with incomplete measurements on the exposure variables in the Hispanic Community Health Study/Study of Latinos. | Li Y et al. | β | 2024 | β |
| Multivariate mediation analysis with voxel-based morphometry revealed the neurodegeneration pathways from genetic variants to Alzheimer's Disease. | Mu S et al. | β | 2024 | β |
| Networks of human milk microbiota are associated with host genomics, childhood asthma, and allergic sensitization. | Fang ZY et al. | β | 2024 | β |
| Nightmares share genetic risk factors with sleep and psychiatric traits. | Ollila HM et al. | β | 2024 | β |
| Novel genomic variants influencing methotrexate delayed clearance in pediatric patients with acute lymphoblastic leukemia. | Choi JY et al. | β | 2024 | β |
| Novel putative causal mutations associated with fat traits in Nellore cattle uncovered by eQTLs located in open chromatin regions. | Garcia IS et al. | β | 2024 | β |
| Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease. | Towns C et al. | β | 2024 | β |
| Performing highly parallelized and reproducible GWAS analysis on biobank-scale data. | SchΓΆnherr S et al. | β | 2024 | β |
| Persistent DNA Methylation Changes across the First Year of Life and Prenatal NO2 Exposure in a Canadian Prospective Birth Study. | Lee S et al. | β | 2024 | β |
| Pharmacogenomic overlap between antidepressant treatment response in major depression & antidepressant associated treatment emergent mania in bipolar disorder. | NuΓ±ez NA et al. | β | 2024 | β |
| Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health. | Guo J et al. | β | 2024 | β |
| Phenome-Wide Association Study of Latent Autoimmune Diabetes from a Southern Mexican Population Implicates rs7305229 with Plasmatic Anti-Glutamic Acid Decarboxylase Autoantibody (GADA) Levels. | Nolasco-Rosales GA et al. | β | 2024 | β |
| Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children. | Kelchtermans J et al. | β | 2024 | β |
| Placental expression quantitative trait loci in an East Asian population. | Choi J et al. | β | 2024 | β |
| Plasma levels of complement components C5 and C9 are associated with thrombin generation. | Vacik DΓaz R et al. | β | 2024 | β |
| Polygenic effects on the risk of Alzheimer's disease in the Japanese population. | Kikuchi M et al. | β | 2024 | β |
| Polygenic inheritance and its interplay with smoking history in predicting lung cancer diagnosis: a French-Canadian case-control cohort. | Boumtje V et al. | β | 2024 | β |
| Polygenic Interactions With Environmental Exposures in Blood Pressure Regulation: The HUNT Study. | Γvretveit K et al. | β | 2024 | β |
| Polygenic liability for anxiety in association with comorbid anxiety in multiple sclerosis. | Kowalec K et al. | β | 2024 | β |
| Polygenic prediction of human longevity on the supposition of pervasive pleiotropy. | Jabalameli MR et al. | β | 2024 | β |
| Polygenic Risk and Coronary Artery Disease Severity. | Sherafati A et al. | β | 2024 | β |
| Polygenic risk for Alzheimer's disease is associated with neuroaxonal damage before onset of clinical symptoms. | Kagerer SM et al. | β | 2024 | β |
| Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks. | Yun JS et al. | β | 2024 | β |
| Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks. | Lee YC et al. | β | 2024 | β |
| Polygenic Risk Score in Predicting Esophageal, Oropharyngeal, and Hypopharynx Cancer Risk among Taiwanese Population. | Huang YC et al. | β | 2024 | β |
| Polygenic risk score model for renal cell carcinoma in the Korean population and relationship with lifestyle-associated factors. | Hong JY et al. | β | 2024 | β |
| Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese. | Hung SC et al. | β | 2024 | β |
| Polygenic risk scores for autoimmune related diseases are significantly different in cancer exceptional responders. | Chen S et al. | β | 2024 | β |
| Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors. | Gibson TM et al. | β | 2024 | β |
| Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease. | Arena G et al. | β | 2024 | β |
| Polygenic scores and Mendelian randomization identify plasma proteins causally implicated in Alzheimer's disease. | Cammann DB et al. | β | 2024 | β |
| Polygenic Scores Clarify the Relationship Between Mental Health and Gender Diversity. | Thomas TR et al. | β | 2024 | β |
| Polygenic scores for tobacco use provide insights into systemic health risks in a diverse EHR-linked biobank in Los Angeles. | Venkateswaran V et al. | β | 2024 | β |
| Polygenic scores of subcortical brain volumes as possible modulators of treatment response in depression. | Oliva V et al. | β | 2024 | β |
| Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation. | DePaolo J et al. | β | 2024 | β |
| Polygenic Selection and Environmental Influence on Adult Body Height: Genetic and Living Standard Contributions Across Diverse Populations. | Piffer D et al. | β | 2024 | β |
| Population-specific putative causal variants shape quantitative traits. | Koyama S et al. | β | 2024 | β |
| Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population. | Flanagan J et al. | β | 2024 | β |
| Predicting Functional Consequences of Recent Natural Selection in Britain. | Poyraz L et al. | β | 2024 | β |
| Predictive value of polygenic risk score for prostate cancer incidence and prognosis in the Han Chinese. | Hung SC et al. | β | 2024 | β |
| Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation. | Carey CE et al. | β | 2024 | β |
| Privacy-Enhancing Technologies in Biomedical Data Science. | Cho H et al. | β | 2024 | β |
| Proteomic analysis of Alzheimer's disease cerebrospinal fluid reveals alterations associated with <i>APOE</i> Ξ΅4 and atomoxetine treatment. | Dammer EB et al. | β | 2024 | β |
| Proteomic Associations of Adverse Outcomes in Human Heart Failure. | Dib MJ et al. | β | 2024 | β |
| Protocol for genome-wide association study of human blood metabolites. | Iwasaki T et al. | β | 2024 | β |
| Proxy-analysis of the genetics of cognitive decline in Parkinson's disease through polygenic scores. | Faouzi J et al. | β | 2024 | β |
| Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues. | Tomofuji Y et al. | β | 2024 | β |
| Rare genetic variation in fibronectin 1 (FN1) protects against APOEΞ΅4 in Alzheimer's disease. | Bhattarai P et al. | β | 2024 | β |
| Reduction of APOE accounts for neurobehavioral deficits in fetal alcohol spectrum disorders. | Hwang HM et al. | β | 2024 | β |
| Region-Based Analyses of Existing Genome-Wide Association Studies Identifies Novel Potential Genetic Susceptibility Regions for Glioma. | Alpen K et al. | β | 2024 | β |
| Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits. | Nicoletti P et al. | β | 2024 | β |
| Risk of anthracycline-induced cardiac dysfunction in adolescent and young adult (AYA) cancer survivors: role of genetic susceptibility loci. | Stafford LK et al. | β | 2024 | β |
| rvTWAS: identifying gene-trait association using sequences by utilizing transcriptome-directed feature selection. | He J et al. | β | 2024 | β |
| Schizophrenia polygenic risk scores, clinical variables and genetic pathways as predictors of phenotypic traits of bipolar I disorder. | Grigoroiu-Serbanescu M et al. | β | 2024 | β |
| SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations. | Yang MY et al. | β | 2024 | β |
| Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus. | Benjamin KJM et al. | β | 2024 | β |
| Sex-biased genetic regulation of inflammatory proteins in the Dutch population. | Boahen CK et al. | β | 2024 | β |
| Sex-dependent placental methylation quantitative trait loci provide insight into the prenatal origins of childhood onset traits and conditions. | Casazza W et al. | β | 2024 | β |
| Sex-Stratified Genome-Wide Association Study in the Spanish Population Identifies a Novel Locus for Lacunar Stroke. | CΓ‘rcel-MΓ‘rquez J et al. | β | 2024 | β |
| shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores. | Kelemen M et al. | β | 2024 | β |
| Shared genetic architectures of educational attainment in East Asian and European populations. | Chen TT et al. | β | 2024 | β |
| Short communication: Accuracy of whole-genome sequence imputation in Angus cattle using within-breed and multi breed reference populations. | Kamprasert N et al. | β | 2024 | β |
| Single-cell genomics and regulatory networks for 388 human brains. | Emani PS et al. | β | 2024 | β |
| Single-cell multi-cohort dissection of the schizophrenia transcriptome. | Ruzicka WB et al. | β | 2024 | β |
| Single-Cell Transcriptomic and Targeted Genomic Profiling Adjusted for Inflammation and Therapy Bias Reveal <i>CRTAM</i> and <i>PLCB1</i> as Novel Hub Genes for Anti-Tumor Necrosis Factor Alpha Therapy Response in Crohn's Disease. | Gorenjak M et al. | β | 2024 | β |
| Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 h. | Grenko CM et al. | β | 2024 | β |
| Single nucleus RNA-sequencing integrated into risk variant colocalization discovers 17 cell-type-specific abdominal obesity genes for metabolic dysfunction-associated steatotic liver disease. | Lee SHT et al. | β | 2024 | β |
| Sleep Genetics and Cognitive Changes over Time: The Moderating Effect of Age and the Role of Brain. | Tsapanou A et al. | β | 2024 | β |
| Smoking and alcohol by HPV status in head and neck cancer: a Mendelian randomization study. | Thakral A et al. | β | 2024 | β |
| Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. | Maury EA et al. | β | 2024 | β |
| Stimulating Wnt signaling reveals context-dependent genetic effects on gene regulation in primary human neural progenitors. | Matoba N et al. | β | 2024 | β |
| Systems biology dissection of PTSD and MDD across brain regions, cell types, and blood. | Daskalakis NP et al. | β | 2024 | β |
| The 1000 Chinese Indigenous Pig Genomes Project provides insights into the genomic architecture of pigs. | Du H et al. | β | 2024 | β |
| The Born in Guangzhou Cohort Study enables generational genetic discoveries. | Huang S et al. | β | 2024 | β |
| The Causal Effect of Adult Height on Late-Life Handgrip Strength: The Singapore Chinese Health Study. | Chang X et al. | β | 2024 | β |
| The effect of rs2910686 on ERAP2 expression in IBD and epithelial inflammatory response. | SΓ¦terstad S et al. | β | 2024 | β |
| The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism. | Xu Z et al. | β | 2024 | β |
| The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria. | Ojewunmi OO et al. | β | 2024 | β |
| The genetics and epidemiology of N- and O-immunoglobulin A glycomics. | Visconti A et al. | β | 2024 | β |
| The Genomic and Cultural Diversity of the Inka Qhapaq Hucha Ceremony in Chile and Argentina. | de la Fuente Castro C et al. | β | 2024 | β |
| The influence of HLA genetic variation on plasma protein expression. | Krishna C et al. | β | 2024 | β |
| The PREVENT dementia programme: baseline demographic, lifestyle, imaging and cognitive data from a midlife cohort study investigating risk factors for dementia. | Ritchie CW et al. | β | 2024 | β |
| The researcher's guide to selecting biomarkers in mental health studies. | Verhoeven JE et al. | β | 2024 | β |
| The role of cognitive reserve and clinical symptoms in the association between genetic liability for educational attainment and functioning in first-episode psychosis: A mediation analysis. | Clougher D et al. | β | 2024 | β |
| Tissue-specific enhancer-gene maps from multimodal single-cell data identify causal disease alleles. | Sakaue S et al. | β | 2024 | β |
| TOPMed imputed genomics enhances genomic atlas of the human proteome in brain, cerebrospinal fluid, and plasma. | Yi H et al. | β | 2024 | β |
| Toward GDPR compliance with the Helmholtz Munich genotype imputation server. | Rayner NW et al. | β | 2024 | β |
| Tracing the fine-scale demographic history and recent admixture in Hmong-Mien speakers. | Xia ZY et al. | β | 2024 | β |
| Transposable elements mediate genetic effects altering the expression of nearby genes in colorectal cancer. | Lykoskoufis NMR et al. | β | 2024 | β |
| Traumatic Brain Injury and Genetic Risk for Alzheimer's Disease Impact Cerebrospinal Fluid Ξ²-Amyloid Levels in Vietnam War Veterans. | Moody JN et al. | β | 2024 | β |
| Two genome-wide interaction loci modify the association of nonsteroidal anti-inflammatory drugs with colorectal cancer. | Drew DA et al. | β | 2024 | β |
| Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes. | Kojima K et al. | β | 2024 | β |
| Type 1 Diabetes Genetic Risk in 109,954 Veterans With Adult-Onset Diabetes: The Million Veteran Program (MVP). | Yang PK et al. | β | 2024 | β |
| Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches. | Arni AM et al. | β | 2024 | β |
| Uncovering novel regulatory variants in carbohydrate metabolism: a comprehensive multi-omics study of glycemic traits in the Indian population. | Nair JM et al. | β | 2024 | β |
| Uncovering the architecture of selection in two <i>Bos taurus</i> cattle breeds. | Rowan TN et al. | β | 2024 | β |
| Unidentified <i>CYP2D6</i> genotype does not affect pharmacological treatment for patients with first episode psychosis. | De Brabander EY et al. | β | 2024 | β |
| Unraveling interindividual variation of trimethylamine <i>N</i>-oxide and its precursors at the population level. | Andreu-SΓ‘nchez S et al. | β | 2024 | β |
| Unsupervised representation learning on high-dimensional clinical data improves genomic discovery and prediction. | Yun T et al. | β | 2024 | β |
| Unveiling challenges in Mendelian randomization for gene-environment interaction. | Gorfine M et al. | β | 2024 | β |
| Unveiling the molecular landscape of cognitive aging: insights from polygenic risk scores, DNA methylation, and gene expression. | Neto S et al. | β | 2024 | β |
| Upgrading of Grade Group 1 Prostate Cancer at Prostatectomy: Germline Risk Factors in a Prospective Cohort. | Liss MA et al. | β | 2024 | β |
| Using a Polygenic Risk Score to Improve the Risk Prediction of Non-Small Cell Lung Cancer in Taiwan. | Lee PH et al. | β | 2024 | β |
| Using expression data to fine map QTL associated with fertility in dairy cattle. | van den Berg I et al. | β | 2024 | β |
| Variability in performance of genetic-enhanced DXA-BMD prediction models across diverse ethnic and geographic populations: A risk prediction study. | Liu Y et al. | β | 2024 | β |
| Variant level heritability estimates of type 2 diabetes in African Americans. | Armstrong ND et al. | β | 2024 | β |
| Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration. | Kwong A et al. | β | 2024 | β |
| Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease. | Kang M et al. | β | 2024 | β |
| Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease. | Xicota L et al. | β | 2024 | β |
| X-linked genetic associations in sporadic thoracic aortic dissection. | Musfee FI et al. | β | 2024 | β |
| Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. | Gaynor SM et al. | β | 2024 | β |
| Genomic selection for target traits in the Australian lentil breeding program. | Gebremedhin A et al. | β | 2023 | β |