Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits.
paper
Cited
Public
- Authors
- Yang, Jian; Ferreira, Teresa; Morris, Andrew P; Medland, Sarah E; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium; Madden, Pamela A F; Heath, Andrew C; Martin, Nicholas G; Montgomery, Grant W; Weedon, Michael N; Loos, Ruth J; Frayling, Timothy M; McCarthy, Mark I; Hirschhorn, Joel N; Goddard, Michael E; Visscher, Peter M
- Year
- 2012
- Journal
- Nature genetics
- PMID
- 22426310
- DOI
- 10.1038/ng.2213
- PMCID
- PMC3593158
We present an approximate conditional and joint association analysis that can use summary-level statistics from a meta-analysis of genome-wide association studies (GWAS) and estimated linkage disequilibrium (LD) from a reference sample with individual-level genotype data. Using this method, we analyzed meta-analysis summary data from the GIANT Consortium for height and body mass index (BMI), with the LD structure estimated from genotype data in two independent cohorts. We identified 36 loci with multiple associated variants for height (38 leading and 49 additional SNPs, 87 in total) via a genome-wide SNP selection procedure. The 49 new SNPs explain approximately 1.3% of variance, nearly doubling the heritability explained at the 36 loci. We did not find any locus showing multiple associated SNPs for BMI. The method we present is computationally fast and is also applicable to case-control data, which we demonstrate in an example from meta-analysis of type 2 diabetes by the DIAGRAM Consortium.
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| Name | Type |
|---|---|
| 247 SNPs local | variant |
| 49 additional associated SNPs local | variant |
| 87 associated SNPs local | variant |
| ACAN | gene |
| additional associated SNPs local | variant |
| Affymetrix 6.0 SNP array local | drug |
| ARIC | cohort |
| BMI | phenotype |
| BMI-associated SNPs | cohort |
| British Isles | cohort |
| case-control sample | cohort |
| CDKN2B | gene |
| CEU | cohort |
| common variants | cohort |
| complex traits | phenotype |
| DIAGRAM meta-analysis local | cohort |
| discovery sample | cohort |
| Disease liability local | phenotype |
| double-GC correction local | drug |
| EFEMP1 local | gene |
| European ancestry | cohort |
| European population | cohort |
| GIANT | cohort |
| GIANT consortium | cohort |
| GWAS | cohort |
| HapMap 2 panel local | cohort |
| HapMap Phase 2 European-American reference panel local | cohort |
| height | phenotype |
| height-associated SNPs | cohort |
| HHIP | gene |
| IGF2BP2 | gene |
| Illumina 370K array local | drug |
| Illumina 610K array local | drug |
| known height-associated SNPs local | variant |
| large-scale meta-analysis local | cohort |
| meta-analysis | cohort |
| meta-analysis sample local | cohort |
| phenotype | phenotype |
| phenotypic variance | phenotype |
| population | cohort |
| QIMR | cohort |
| QIMR cohort | cohort |
| reference population | cohort |
| reference sample local | cohort |
| Reference Sample local | cohort |
| rs10757282 local | variant |
| rs10965250 local | variant |
| rs1367226 local | variant |
| rs17720281 local | variant |
| rs1814175 local | variant |
| rs3791675 local | variant |
| rs5017948 local | variant |
| rs6784185 local | variant |
| rs720390 local | variant |
| rs7689420 local | variant |
| secondary signal | variant |
| secondary SNP local | variant |
| SNP | cohort |
| SNP set 1 local | variant |
| SNP set 2 local | variant |
| trait | phenotype |
| type 2 diabetes | phenotype |
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| A proteome-wide association study identifies putative causal proteins for breast cancer risk. | Zhao T et al. | β | 2024 | β |
| A robust cis-Mendelian randomization method with application to drug target discovery. | Lin Z et al. | β | 2024 | β |
| A scoping review of statistical methods to investigate colocalization between genetic associations and microRNA expression in osteoarthritis. | Zang K et al. | β | 2024 | β |
| Assessment of causal relationships between omega-3 and omega-6 polyunsaturated fatty acids in autoimmune rheumatic diseases: a brief research report from a Mendelian randomization study. | Xu X et al. | β | 2024 | β |
| Association of plasma high-density lipoprotein cholesterol level with risk of incident dementia: a cohort study of healthy older adults. | Hussain SM et al. | β | 2024 | β |
| Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis. | Guillen-Guio B et al. | β | 2024 | β |
| Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides informative biomarkers. | Sergouniotis PI et al. | β | 2024 | β |
| Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference. | Sun J et al. | β | 2024 | β |
| Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry. | Burns K et al. | β | 2024 | β |
| Brain cell-type shifts in Alzheimer's disease, autism, and schizophrenia interrogated using methylomics and genetics. | Yap CX et al. | β | 2024 | β |
| Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer. | Sun X et al. | β | 2024 | β |
| Causal association and mediating effect of blood biochemical metabolic traits and brain image-derived endophenotypes on Alzheimer's disease. | Yin KF et al. | β | 2024 | β |
| Causal effects of endometriosis on SLE, RA and SS risk: evidence from meta-analysis and Mendelian randomization. | Tang T et al. | β | 2024 | β |
| Causal relationship between air pollution and infections: a two-sample Mendelian randomization study. | Yang S et al. | β | 2024 | β |
| Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults. | Pozarickij A et al. | β | 2024 | β |
| Comprehensive genetic study of the insulin resistance marker TG:HDL-C in the UK Biobank. | Oliveri A et al. | β | 2024 | β |
| Cross-ancestry genome-wide association studies of brain imaging phenotypes. | Fu J et al. | β | 2024 | β |
| Depression and the risk of fibromyalgia syndrome: a two-sample Mendelian randomization study. | Ma X et al. | β | 2024 | β |
| Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan. | Chen HL et al. | β | 2024 | β |
| DNAm scores for serum GDF15 and NT-proBNP levels associate with a range of traits affecting the body and brain. | Gadd DA 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 |
| Effect modification by sex of genetic associations of vitamin C related metabolites in the Canadian Longitudinal study on aging. | Lelievre R et al. | β | 2024 | β |
| Evaluation of Bayesian Linear Regression derived gene set test methods. | Bai Z et al. | β | 2024 | β |
| Evidence of survival bias in the association between <i>APOE-Π4</i> and age at ischemic stroke onset. | von Berg J et al. | β | 2024 | β |
| Exome Sequence Data of Eight SLC Transporters Reveal That <i>SLC22A1</i> and <i>SLC22A3</i> Variants Alter Metformin Pharmacokinetics and Glycemic Control. | Morales-Rivera MI et al. | β | 2024 | β |
| Exome sequencing identifies novel genetic variants associated with varicose veins. | Zhang DD et al. | β | 2024 | β |
| Exploring noncoding variants in genetic diseases: from detection to functional insights. | Wu K et al. | β | 2024 | β |
| Exploring the causal factor effects of hypothyroidism on ischemic stroke: a two-sample Mendelian randomization study. | Tian Y et al. | β | 2024 | β |
| Exploring the Genetic Risk of Childhood Daytime Urinary Incontinence: A Genome-Wide Association Study. | Breinbjerg A et al. | β | 2024 | β |
| Expression- and splicing-based multi-tissue transcriptome-wide association studies identified multiple genes for breast cancer by estrogen-receptor status. | McClellan JC et al. | β | 2024 | β |
| FABIO: TWAS fine-mapping to prioritize causal genes for binary traits. | Zhang H et al. | β | 2024 | β |
| Femoral neck width genetic risk score is a novel independent risk factor for hip fractures. | Tobias JH et al. | β | 2024 | β |
| Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes. | Chen Z et al. | β | 2024 | β |
| Fine mapping of candidate effector genes for heart rate. | RamΓrez J et al. | β | 2024 | β |
| Gaining new insights into the etiology of ulcerative colitis through a cross-tissue transcriptome-wide association study. | Ren S et al. | β | 2024 | β |
| Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study. | Friligkou E 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 architecture of routinely acquired blood tests in a British South Asian cohort. | Jacobs BM et al. | β | 2024 | β |
| Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences. | Burren OS et al. | β | 2024 | β |
| Genetic architecture reconciles linkage and association studies of complex traits. | Sidorenko J et al. | β | 2024 | β |
| Genetic association and transferability for urinary albumin-creatinine ratio as a marker of kidney disease in four Sub-Saharan African populations and non-continental individuals of African ancestry. | Brandenburg JT et al. | β | 2024 | β |
| Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia. | Yang Z et al. | β | 2024 | β |
| Genetic control of DNA methylation is largely shared across European and East Asian populations. | Hatton AA et al. | β | 2024 | β |
| Genetic drivers and cellular selection of female mosaic X chromosome loss. | Liu A et al. | β | 2024 | β |
| Genetic effects on the skin methylome in healthy older twins. | Shore CJ et al. | β | 2024 | β |
| Genetic evidence for serum amyloid PΒ component as a drug target in neurodegenerative disorders. | Schmidt AF 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 |
| Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism. | SolΓ©-Navais P 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 association analysis provides insights into the molecular etiology of dilated cardiomyopathy. | Zheng SL et al. | β | 2024 | β |
| Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage. | Westergaard D et al. | β | 2024 | β |
| Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies. | Wei Y et al. | β | 2024 | β |
| Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants. | Lee DJ et al. | β | 2024 | β |
| Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans. | Park YJ 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 meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration. | Ahmad S et al. | β | 2024 | β |
| Genome-Wide Association Study of Reproductive Traits in Large White Pigs. | Hong Y et al. | β | 2024 | β |
| Genome-wide determinants of mortality and motor progression in Parkinson's disease. | Tan MMX et al. | β | 2024 | β |
| Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction. | Schormair B et al. | β | 2024 | β |
| Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma. | Diaz-Torres S et al. | β | 2024 | β |
| Genome-Wide Meta-analysis Identifies Risk Loci and Improves Disease Prediction of Age-Related Macular Degeneration. | He W et al. | β | 2024 | β |
| Genomic loci involved in sensing environmental cues and metabolism affect seasonal coat shedding in Bos taurus and Bos indicus cattle. | Durbin HJ et al. | β | 2024 | β |
| GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the FcΞ³ receptor region. | Ishikawa Y et al. | β | 2024 | β |
| GWAS Meta-analysis of Kidney Function Traits in Japanese Populations. | Hishida A et al. | β | 2024 | β |
| Heterogeneous genetic architectures of prostate cancer susceptibility in sub-Saharan Africa. | Janivara R et al. | β | 2024 | β |
| Hierarchical joint analysis of marginal summary statistics-Part I: Multipopulation fine mapping and credible set construction. | Shen J et al. | β | 2024 | β |
| High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene. | Rahimov F 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 of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population. | Tang X et al. | β | 2024 | β |
| Identification of genetically predicted DNA methylation markers associated with non-small cell lung cancer risk among 34,964 cases and 448,579 controls. | Zhao X et al. | β | 2024 | β |
| Identification of genetic basis of brain imaging by group sparse multi-task learning leveraging summary statistics. | Xi D et al. | β | 2024 | β |
| Identifying Common Genetic Etiologies Between Inflammatory Bowel Disease and Related Immune-Mediated Diseases. | Liu X et al. | β | 2024 | β |
| Identifying risk loci for FTD and shared genetic component with ALS: A large-scale multitrait association analysis. | Chen K et al. | β | 2024 | β |
| Identifying risk loci for obsessive-compulsive disorder and shared genetic component with schizophrenia: A large-scale multi-trait association analysis with summary statistics. | Dai J et al. | β | 2024 | β |
| IL32 downregulation lowers triglycerides and type I collagen in di-lineage human primary liver organoids. | Sasidharan K et al. | β | 2024 | β |
| <i>LRP1</i> Repression by SNAIL Results in ECM Remodeling in Genetic Risk for Vascular Diseases. | Liu L et al. | β | 2024 | β |
| Immune Cell Distributions in the Blood of Healthy Individuals at High Genetic Risk of Parkinson's Disease. | Deecke L et al. | β | 2024 | β |
| Improving fine-mapping by modeling infinitesimal effects. | Cui R et al. | β | 2024 | β |
| Integrating muti-omics data to identify tissue-specific DNA methylation biomarkers for cancer risk. | Yang Y et al. | β | 2024 | β |
| Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation. | ThΓ©riault S et al. | β | 2024 | β |
| Investigating causal associations among gut microbiota, metabolites, and psoriatic arthritis: a Mendelian randomization study. | Xu X et al. | β | 2024 | β |
| Joint testing of rare variant burden scores using non-negative least squares. | Ziyatdinov A et al. | β | 2024 | β |
| Large-Scale Alternative Polyadenylation-Wide Association Studies to Identify Putative Cancer Susceptibility Genes. | Guo X et al. | β | 2024 | β |
| Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression. | Zouache MA 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 |
| Mapping the functional impact of non-coding regulatory elements in primary T cells through single-cell CRISPR screens. | Alda-Catalinas C et al. | β | 2024 | β |
| Mendelian randomization analyses clarify the effects of height on cardiovascular diseases. | Hui D et al. | β | 2024 | β |
| Mendelian randomization studies of lifestyle-related risk factors for stroke: a systematic review and meta-analysis. | Tian Y 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 |
| Modeling multi-stageΒ disease progression and identifying genetic risk factors via a novel collaborative learning method. | Xi D et al. | β | 2024 | β |
| MOSES: a methylation-based gene association approach for unveiling environmentally regulated genes linked to a trait or disease. | Kim S et al. | β | 2024 | β |
| Muesli Intake May Protect Against Coronary Artery Disease: Mendelian Randomization on 13 Dietary Traits. | Park JK 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 genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference. | Meng X et al. | β | 2024 | β |
| Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma. | Choquet H et al. | β | 2024 | β |
| Multi-tissue transcriptome-wide association studies identified 235 genes for intrinsic subtypes of breast cancer. | Li JL et al. | β | 2024 | β |
| Multi-tissue transcriptome-wide association study identifies novel candidate susceptibility genes for cataract. | Choquet H et al. | β | 2024 | β |
| Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications. | Sterenborg RBTM et al. | β | 2024 | β |
| Multivariate genomic analysis of 5βmillion people elucidates the genetic architecture of shared components of the metabolic syndrome. | Park S et al. | β | 2024 | β |
| Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study. | Arunachalam V et al. | β | 2024 | β |
| Open Science Practices in Psychiatric Genetics: A Primer. | KΔpiΕska AP et al. | β | 2024 | β |
| Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease. | Jamialahmadi O et al. | β | 2024 | β |
| Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes. | Huerta-Chagoya A et al. | β | 2024 | β |
| Robust use of phenotypic heterogeneity at drug target genes for mechanistic insights: Application of cis-multivariable Mendelian randomization to GLP1R gene region. | Patel A et al. | β | 2024 | β |
| Sex and statin-related genetic associations at the PCSK9 gene locus: results of genome-wide association meta-analysis. | Pott J 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 associations of plasma high-density lipoprotein cholesterol and mortality risk in healthy older men and women: two prospective cohort studies. | Hussain SM et al. | β | 2024 | β |
| Shared genetic architecture between COVID-19 and irritable bowel syndrome: a large-scale genome-wide cross-trait analysis. | Liu X et al. | β | 2024 | β |
| SharePro: an accurate and efficient genetic colocalization method accounting for multiple causal signals. | Zhang W et al. | β | 2024 | β |
| simmrd: An open-source tool to perform simulations in Mendelian randomization. | Lorincz-Comi N et al. | β | 2024 | β |
| Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease. | Saevarsdottir S et al. | β | 2024 | β |
| Statistical inference with large-scale trait imputation. | Ren J 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 |
| Targeting <i>ERBB2</i> and <i>PIK3R1</i> as a therapeutic strategy for dilated cardiomyopathy: A single-cell sequencing and mendelian randomization analysis. | He B et al. | β | 2024 | β |
| The causal relationship between autoimmune diseases and age-related macular degeneration: A two-sample mendelian randomization study. | Li L et al. | β | 2024 | β |
| The causal relationship between gut microbiota and immune skin diseases: A bidirectional Mendelian randomization. | Feng F 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 genetic effects of hormones modulated by the Pituitary-Thyroid/Adrenal/Gonadal axis on the risk of developing venous thromboembolism: a mendelian randomization study. | Tian H et al. | β | 2024 | β |
| The goldmine of GWAS summary statistics: a systematic review of methods and tools. | Kontou PI et al. | β | 2024 | β |
| The impact of assortative mating, participation bias and socioeconomic status on the polygenic risk of behavioural and psychiatric traits. | Cabrera-Mendoza B et al. | β | 2024 | β |
| Transcriptome-wide association analysis identifies candidate susceptibility genes for prostate-specific antigen levels in men without prostate cancer. | Chen DM 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 |
| Using encrypted genotypes and phenotypes for collaborative genomic analyses to maintain data confidentiality. | Zhao T et al. | β | 2024 | β |
| Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes. | Ping J et al. | β | 2024 | β |
| Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles. | Huffman JE et al. | β | 2024 | β |
| X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements. | Scholz M et al. | β | 2024 | β |
| 150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility. | Wu Y et al. | β | 2023 | β |
| A Genome-Wide Association Study Meta-Analysis of Alpha Angle Suggests Cam-Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults. | Faber BG et al. | β | 2023 | β |
| A joint transcriptome-wide association study across multiple tissues identifies candidate breast cancer susceptibility genes. | Gao G et al. | β | 2023 | β |
| A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia. | Jiang C et al. | β | 2023 | β |
| An atlas of genetic determinants of forearm fracture. | Nethander M et al. | β | 2023 | β |
| Ancestral diversity in lipoprotein(a) studies helps address evidence gaps. | Lee MP et al. | β | 2023 | β |
| Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels. | Ji Y et al. | β | 2023 | β |
| A phenome-wide approach to identify causal risk factors for deep vein thrombosis. | Constantinescu AE et al. | β | 2023 | β |
| Association between Neuroligin-1 polymorphism and plasma glutamine levels in individuals with autism spectrum disorder. | Lee IH et al. | β | 2023 | β |
| Association between systemic sclerosis and left ventricle dysfunction: Findings from observational studies. | Yan W et al. | β | 2023 | β |
| A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants. | Choi J et al. | β | 2023 | β |
| Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits. | Zhang BC et al. | β | 2023 | β |
| Body surface area is a potential obesity index: Its genetic determination and its causality for later-life diseases. | Yu XH et al. | β | 2023 | β |
| Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis. | Medina-Gomez C et al. | β | 2023 | β |
| Branched chain amino acids harbor distinct and often opposing effects on health and disease. | Avery CL et al. | β | 2023 | β |
| CandiHap: a haplotype analysis toolkit for natural variation study. | Li X et al. | β | 2023 | β |
| CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses. | Yang Z et al. | β | 2023 | β |
| Causal association between psycho-psychological factors, such as stress, anxiety, depression, and irritable bowel syndrome: Mendelian randomization. | Diao Z et al. | β | 2023 | β |
| Causal associations between cardiorespiratory fitness and type 2 diabetes. | Cai L et al. | β | 2023 | β |
| Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations. | Lovegrove CE et al. | β | 2023 | β |
| Circulating Proteins Influencing Psychiatric Disease: A Mendelian Randomization Study. | Lu T et al. | β | 2023 | β |
| Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes. | Elliott MD et al. | β | 2023 | β |
| Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program. | Wang X et al. | β | 2023 | β |
| Complex genetic architecture underlying the plasticity of maize agronomic traits. | Jin M et al. | β | 2023 | β |
| Conditional inference in cis-Mendelian randomization using weak genetic factors. | Patel A et al. | β | 2023 | β |
| Conventional and genetic associations of adiposity with 1463 proteins in relatively lean Chinese adults. | Yao P et al. | β | 2023 | β |
| Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D. | Wang X et al. | β | 2023 | β |
| Cross-disorder genetic analysis of immune diseases reveals distinct gene associations that converge on common pathways. | Demela P et al. | β | 2023 | β |
| Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. | Fernandez-Rozadilla C et al. | β | 2023 | β |
| Deciphering the genetic landscape of obesity: a data-driven approach to identifying plausible causal genes and therapeutic targets. | Ang MY et al. | β | 2023 | β |
| Discovery of genomic loci associated with sleep apnea risk through multi-trait GWAS analysis with snoring. | Campos AI et al. | β | 2023 | β |
| Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens. | Morris JA et al. | β | 2023 | β |
| Dissecting the genetic heterogeneity of gastric cancer. | Hess T et al. | β | 2023 | β |
| Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study. | Yu Chen H et al. | β | 2023 | β |
| East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease. | He Y et al. | β | 2023 | β |
| Effect of all-but-one conditional analysis for eQTL isolation in peripheral blood. | Brown M et al. | β | 2023 | β |
| Elucidation of the genetic causes of bicuspid aortic valve disease. | Gehlen J et al. | β | 2023 | β |
| Estimation and implications of the genetic architecture of fasting and non-fasting blood glucose. | Qiao Z et al. | β | 2023 | β |
| European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. | Budu-Aggrey A et al. | β | 2023 | β |
| Exploring the genetic basis of coronary artery disease using functional genomics. | LΓ³pez RodrΓguez M et al. | β | 2023 | β |
| Fine mapping and accurate prediction of complex traits using Bayesian Variable Selection models applied to biobank-size data. | de Los Campos G et al. | β | 2023 | β |
| Functional characterization of a single nucleotide polymorphism associated with Alzheimer's disease in a hiPSC-based neuron model. | Stolzenburg LR et al. | β | 2023 | β |
| Gene expression and RNA splicing explain large proportions of the heritability for complex traits in cattle. | Xiang R et al. | β | 2023 | β |
| Genetically determined circulating resistin concentrations and risk of colorectal cancer: a two-sample Mendelian randomization study. | Pham TT et al. | β | 2023 | β |
| Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries. | Liu Z et al. | β | 2023 | β |
| Genetic control of N-glycosylation of human blood plasma proteins. | Sharapov SZ et al. | β | 2023 | β |
| Genetic correlates of vitamin D-binding protein and 25-hydroxyvitamin D in neonatal dried blood spots. | AlbiΓ±ana C et al. | β | 2023 | β |
| Genetic effects on the timing of parturition and links to fetal birth weight. | SolΓ©-Navais P et al. | β | 2023 | β |
| Genetic fine-mapping from summary data using a nonlocal prior improves the detection of multiple causal variants. | Karhunen V et al. | β | 2023 | β |
| Genetic insights into the age-specific biological mechanisms governing human ovarian aging. | Ojavee SE et al. | β | 2023 | β |
| Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease. | Martinez-Carrasco A et al. | β | 2023 | β |
| Genetic Risk of Primary Aldosteronism and Its Contribution to Hypertension: A Cross-Ancestry Meta-Analysis of Genome-Wide Association Studies. | Naito T et al. | β | 2023 | β |
| Genetics implicates overactive osteogenesis in the development of diffuse idiopathic skeletal hyperostosis. | Sethi A et al. | β | 2023 | β |
| Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets. | Zhao JH et al. | β | 2023 | β |
| Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine. | Schlosser P et al. | β | 2023 | β |
| Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms. | Wang X et al. | β | 2023 | β |
| Genetic Underpinnings of the Transition From Alcohol Consumption to Alcohol Use Disorder: Shared and Unique Genetic Architectures in a Cross-Ancestry Sample. | Kember RL et al. | β | 2023 | β |
| Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus. | Mathieson I et al. | β | 2023 | β |
| Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. | Kiryluk K et al. | β | 2023 | β |
| Genome-wide association studies for a comprehensive understanding of the genetic architecture of culm strength and yield traits in rice. | Badri J et al. | β | 2023 | β |
| Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake. | Williamson A et al. | β | 2023 | β |
| Genome-Wide Association Study for Somatic Skeletal Traits in Duroc Γ (Landrace Γ Yorkshire) Pigs. | Gao X et al. | β | 2023 | β |
| Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene. | Tsai MC et al. | β | 2023 | β |
| Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population. | Shi J et al. | β | 2023 | β |
| Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. | Beaumont RN et al. | β | 2023 | β |
| Genome-wide genotype-serum proteome mapping provides insights into the cross-ancestry differences in cardiometabolic disease susceptibility. | Xu F et al. | β | 2023 | β |
| Genome-wide multi-trait analysis of irritable bowel syndrome and related mental conditions identifies 38 new independent variants. | Alemany S et al. | β | 2023 | β |
| Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases. | Chen Y et al. | β | 2023 | β |
| Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease. | Duperron MG et al. | β | 2023 | β |
| GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19. | Pairo-Castineira E et al. | β | 2023 | β |
| GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification. | Lagou V et al. | β | 2023 | β |
| HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases. | Butler-Laporte G et al. | β | 2023 | β |
| HTRX: an R package for learning non-contiguous haplotypes associated with a phenotype. | Yang Y et al. | β | 2023 | β |
| Human height: a model common complex trait. | Conery M et al. | β | 2023 | β |
| Identification of candidate genes associated with carcass component weights in commercial crossbred pigs through a combined GWAS approach. | Qiu Y et al. | β | 2023 | β |
| Identifying genetic regulatory variants that affect transcription factor activity. | Li X et al. | β | 2023 | β |
| Inflammatory arthritis and eye diseases: a Mendelian randomization study. | Nie X et al. | β | 2023 | β |
| Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci. | Ghaffar A et al. | β | 2023 | β |
| Integrating genomics and proteomics data to identify candidate plasma biomarkers for lung cancer risk among European descendants. | Yang Y et al. | β | 2023 | β |
| Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension. | van Duijvenboden S et al. | β | 2023 | β |
| Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson's disease genes. | Li J et al. | β | 2023 | β |
| Integrative analysis of individual-level data and high-dimensional summary statistics. | Fu S et al. | β | 2023 | β |
| Integrative GWAS and co-localisation analysis suggests novel genes associated with age-related multimorbidity. | West CE et al. | β | 2023 | β |
| Invited review: Good practices in genome-wide association studies to identify candidate sequence variants in dairy cattle. | Sahana G et al. | β | 2023 | β |
| Joint analysis of GWAS and multi-omics QTL summary statistics reveals a large fraction of GWAS signals shared with molecular phenotypes. | Wu Y et al. | β | 2023 | β |
| KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies. | Stanzick KJ et al. | β | 2023 | β |
| Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease. | Ali M et al. | β | 2023 | β |
| Larger cerebral cortex is genetically correlated with greater frontal area and dorsal thickness. | Makowski C et al. | β | 2023 | β |
| Loci for insulin processing and secretion provide insight into type 2 diabetes risk. | Broadaway KA et al. | β | 2023 | β |
| Locus for severity implicates CNS resilience in progression of multiple sclerosis. | International Multiple Sclerosis Genetics Consortium et al. | β | 2023 | β |
| Lowering of Circulating Sclerostin May Increase Risk of Atherosclerosis and Its Risk Factors: Evidence From a Genome-Wide Association Meta-Analysis Followed by Mendelian Randomization. | Zheng J et al. | β | 2023 | β |
| mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data. | Li A et al. | β | 2023 | β |
| Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program. | Small AM et al. | β | 2023 | β |
| Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification. | Kavousi M et al. | β | 2023 | β |
| Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals. | Zhou H et al. | β | 2023 | β |
| Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. | Barry A et al. | β | 2023 | β |
| Multi-Trait Exome-Wide Association Study of Back Pain-Related Phenotypes. | Zorkoltseva IV et al. | β | 2023 | β |
| Multitrait meta-analyses identify potential candidate genes for growth-related traits in Holstein heifers. | Ma Z et al. | β | 2023 | β |
| Polygenic regression uncovers trait-relevant cellular contexts through pathway activation transformation of single-cell RNA sequencing data. | Ma Y et al. | β | 2023 | β |
| Polygenic Risk Prediction in Diverticulitis. | De Roo AC et al. | β | 2023 | β |
| Polygenic scores for estimated glomerular filtration rate in a population of general adults and elderly - comparative results from the KORA and AugUR study. | Herold JM et al. | β | 2023 | β |
| Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson's disease. | Phillips B et al. | β | 2023 | β |
| Proteomic analysis of 92 circulating proteins and their effects in cardiometabolic diseases. | Carland C et al. | β | 2023 | β |
| Rare-variant association analysis reveals known and new age-related hearing loss genes. | Cornejo-Sanchez DM et al. | β | 2023 | β |
| Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura. | Bjornsdottir G et al. | β | 2023 | β |
| Sequence level genome-wide associations for bull production and fertility traits in tropically adapted bulls. | Tan WLA et al. | β | 2023 | β |
| Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria. | Kristjansson RP et al. | β | 2023 | β |
| Sex differences in multilayer functional network topology over the course of aging in 37543 UK Biobank participants. | Mijalkov M et al. | β | 2023 | β |
| Shared and distinct genetic etiologies for different types of clonal hematopoiesis. | Brown DW et al. | β | 2023 | β |
| Shared Genetic Risk Factors for Multiple Sclerosis/Psoriasis Suggest Involvement of Interleukin-17 and Janus Kinase-Signal Transducers and Activators of Transcription Signaling. | Patrick MT et al. | β | 2023 | β |
| Simultaneous selection of multiple important single nucleotide polymorphisms in familial genome wide association studies data. | Majumdar S et al. | β | 2023 | β |
| Statins and risk of venous thromboembolic diseases: A two-sample mendelian randomization study. | Ma XS et al. | β | 2023 | β |
| Statistical methods for cis-Mendelian randomization with two-sample summary-level data. | Gkatzionis A et al. | β | 2023 | β |
| Structural variants and short tandem repeats impact gene expression and splicing in bovine testis tissue. | Bhati M et al. | β | 2023 | β |
| Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation. | Currant H et al. | β | 2023 | β |
| Systematic fine-mapping and functional studies of prostate cancer risk variants. | Qian Y et al. | β | 2023 | β |
| The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders. | Borbye-Lorenzen N et al. | β | 2023 | β |
| The genetic architecture and evolution of the human skeletal form. | Kun E et al. | β | 2023 | β |
| The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses. | Faber BG et al. | β | 2023 | β |
| The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data. | Leonard HL et al. | β | 2023 | β |
| Transcriptome- and proteome-wide association studies nominate determinants of kidney function and damage. | Schlosser P et al. | β | 2023 | β |
| Transcriptome-wide association study identifies novel candidate susceptibility genes for migraine. | Meyers TJ et al. | β | 2023 | β |
| Transfer Learning for Classification of Alzheimer's Disease Based on Genome Wide Data. | Alatrany AS et al. | β | 2023 | β |
| Trumpet plots: visualizing the relationship between allele frequency and effect size in genetic association studies. | Corte L et al. | β | 2023 | β |
| Using GWAS summary data to impute traits for genotyped individuals. | Ren J et al. | β | 2023 | β |
| Variation in ERAP2 has opposing effects on severe respiratory infection and autoimmune disease. | Hamilton F et al. | β | 2023 | β |
| X-linked genes influence various complex traits in dairy cattle. | Sanchez MP et al. | β | 2023 | β |
| Accounting for age of onset and family history improves power in genome-wide association studies. | Pedersen EM et al. | β | 2022 | β |
| A conditional gene-based association framework integrating isoform-level eQTL data reveals new susceptibility genes for schizophrenia. | Li X et al. | β | 2022 | β |
| A genome-wide association study of serum proteins reveals shared loci with common diseases. | Gudjonsson A et al. | β | 2022 | β |
| Allelic imbalance of chromatin accessibility in cancer identifies candidate causal risk variants and their mechanisms. | Grishin D et al. | β | 2022 | β |
| Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis. | Sorokin EP et al. | β | 2022 | β |
| An atlas of robust microbiome associations with phenotypic traits based on large-scale cohorts from two continents. | Rothschild D et al. | β | 2022 | β |
| Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis. | Choquet H et al. | β | 2022 | β |
| An integrated framework for local genetic correlation analysis. | Werme J et al. | β | 2022 | β |
| An unbiased kinship estimation method for genetic data analysis. | Jiang W et al. | β | 2022 | β |
| A protocol for recruiting and analyzing the disease-oriented Russian disc degeneration study (RuDDS) biobank for functional omics studies of lumbar disc degeneration. | Leonova ON et al. | β | 2022 | β |
| A saturated map of common genetic variants associated with human height. | Yengo L et al. | β | 2022 | β |
| Association between Circulating Antioxidants and Longevity: Insight from Mendelian Randomization Study. | Yu Z et al. | β | 2022 | β |
| BICOSS: Bayesian iterative conditional stochastic search for GWAS. | Williams J et al. | β | 2022 | β |
| Causal associations between blood pressure and the risk of myocardial infarction: A bidirectional Mendelian randomization study. | Yang ZQ et al. | β | 2022 | β |
| Causal Inference with Genetic Data: Past, Present, and Future. | Pingault JB et al. | β | 2022 | β |
| Causal relationship between tea intake and cardiovascular diseases: A Mendelian randomization study. | Gao N et al. | β | 2022 | β |
| Characterization of the genetic architecture of infant and early childhood body mass index. | Helgeland Γ et al. | β | 2022 | β |
| Circulating Vitamin D Levels and the Risk of Atrial Fibrillation: A Two-Sample Mendelian Randomization Study. | Yang S et al. | β | 2022 | β |
| CLIMB: High-dimensional association detection in large scale genomic data. | Koch H et al. | β | 2022 | β |
| Coding and regulatory variants are associated with serum protein levels and disease. | Emilsson V et al. | β | 2022 | β |
| Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort. | Qin Y et al. | β | 2022 | β |
| Common and rare variant associations with clonal haematopoiesis phenotypes. | Kessler MD et al. | β | 2022 | β |
| Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries. | Ε koriΔ-MilosavljeviΔ D et al. | β | 2022 | β |
| Comparing heritability estimators under alternative structures of linkage disequilibrium. | Min A et al. | β | 2022 | β |
| Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci. | Fadista J et al. | β | 2022 | β |
| COVID-19 and systemic lupus erythematosus genetics: A balance between autoimmune disease risk and protection against infection. | Wang Y et al. | β | 2022 | β |
| Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer. | Byun J et al. | β | 2022 | β |
| Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors. | Thibord F et al. | β | 2022 | β |
| Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease. | Uellendahl-Werth F et al. | β | 2022 | β |
| Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals. | Winkler TW et al. | β | 2022 | β |
| Discovery and Functional Characterization of Two Regulatory Variants Underlying Lupus Susceptibility at 2p13.1. | Fazel-Najafabadi M et al. | β | 2022 | β |
| Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. | Aragam KG et al. | β | 2022 | β |
| Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases. | Makowski C et al. | β | 2022 | β |
| Disentangling the effects of traits with shared clustered genetic predictors using multivariable Mendelian randomization. | Batool F et al. | β | 2022 | β |
| echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline. | Schilder BM et al. | β | 2022 | β |
| Effects of Gut Microbiota and Metabolites on Heart Failure and Its Risk Factors: A Two-Sample Mendelian Randomization Study. | Luo Q et al. | β | 2022 | β |
| Epigenomic and Transcriptomic Prioritization of Candidate Obesity-Risk Regulatory GWAS SNPs. | Zhang X et al. | β | 2022 | β |
| Fine-mapping from summary data with the "Sum of Single Effects" model. | Zou Y et al. | β | 2022 | β |
| Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1. | Cardinale A et al. | β | 2022 | β |
| Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1. | Restuadi R et al. | β | 2022 | β |
| Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations. | Gilly A et al. | β | 2022 | β |
| Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate. | Mishra A et al. | β | 2022 | β |
| Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases. | Kundu K et al. | β | 2022 | β |
| Genetic basis of job attainment characteristics and the genetic sharing with other SES indices and well-being. | Song Z et al. | β | 2022 | β |
| Genetic common variants associated with cerebellar volume and their overlap with mental disorders: a study on 33,265 individuals from the UK-Biobank. | Chambers T et al. | β | 2022 | β |
| Genetic determinants of polygenic prediction accuracy within a population. | Lu T et al. | β | 2022 | β |
| Genetic insights into smoking behaviours in 10,558 men of African ancestry from continental Africa and the UK. | Piga NN et al. | β | 2022 | β |
| Genetic Landscape of the ACE2 Coronavirus Receptor. | Yang Z et al. | β | 2022 | β |
| Genetic regulation of post-translational modification of two distinct proteins. | Landini A et al. | β | 2022 | β |
| Genetic regulation of RNA splicing in human pancreatic islets. | Atla G et al. | β | 2022 | β |
| Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits. | Liu L et al. | β | 2022 | β |
| Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes. | Vogelezang S et al. | β | 2022 | β |
| Genetics of osteopontin in patients with chronic kidney disease: The German Chronic Kidney Disease study. | Cheng Y et al. | β | 2022 | β |
| Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis. | Kar SP et al. | β | 2022 | β |
| Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci. | Chen H et al. | β | 2022 | β |
| Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention. | Wang Z et al. | β | 2022 | β |
| Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank. | Xue Z et al. | β | 2022 | β |
| Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis. | Allen RJ et al. | β | 2022 | β |
| Genome-Wide Association Study for eGFR in a Taiwanese Population. | Chen YC et al. | β | 2022 | β |
| Genome-wide association study identifies genetic risk loci for adiposity in a Taiwanese population. | Wong HS et al. | β | 2022 | β |
| Genome-wide association study in individuals of European and African ancestry and multi-trait analysis of opioid use disorder identifies 19 independent genome-wide significant risk loci. | Deak JD et al. | β | 2022 | β |
| Genome-wide association study meta-analysis identifies three novel loci for circulating anti-MΓΌllerian hormone levels in women. | Verdiesen RMG et al. | β | 2022 | β |
| Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects. | Krohn L et al. | β | 2022 | β |
| Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse. | Roselli C et al. | β | 2022 | β |
| Genome-Wide Association Study Statistical Models: A Review. | Yoosefzadeh-Najafabadi M et al. | β | 2022 | β |
| Genome-wide association study with imputed whole-genome sequence variants including large deletions for female fertility in 3 Nordic dairy cattle breeds. | Mesbah-Uddin M et al. | β | 2022 | β |
| Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis. | Scholz M et al. | β | 2022 | β |
| GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating Ξ±-Klotho levels. | Gergei I et al. | β | 2022 | β |
| GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements. | Dixon PH et al. | β | 2022 | β |
| H3AGWAS: a portable workflow for genome wide association studies. | Brandenburg JT et al. | β | 2022 | β |
| Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies. | Harlow CE et al. | β | 2022 | β |
| Identification of a genomic region containing genes involved in resistance to four pathotypes of Plasmodiophora brassicae in Brassica rapa turnip ECD02. | Rahaman M et al. | β | 2022 | β |
| Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. | Loh M et al. | β | 2022 | β |
| Identification of novel genome-wide pleiotropic associations with oral inflammatory traits. | Jin Y et al. | β | 2022 | β |
| Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution. | Koprulu M et al. | β | 2022 | β |
| Identification of shared loci associated with both Crohn's disease and leprosy in East Asians. | Jung S et al. | β | 2022 | β |
| Identifying Causes of Fracture Beyond Bone Mineral Density: Evidence From Human Genetics. | Lu T et al. | β | 2022 | β |
| Immuno-Modulatory Effects of Intervertebral Disc Cells. | Bermudez-Lekerika P et al. | β | 2022 | β |
| Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Breast Cancer Risk Prediction Among Asian Women. | Yang Y et al. | β | 2022 | β |
| Integrating 3D genomic and epigenomic data to enhance target gene discovery and drug repurposing in transcriptome-wide association studies. | Khunsriraksakul C et al. | β | 2022 | β |
| Integration of multidimensional splicing data and GWAS summary statistics for risk gene discovery. | Ji Y et al. | β | 2022 | β |
| Integrative multi-omic analysis identifies genetically influenced DNA methylation biomarkers for breast and prostate cancers. | Sathyanarayanan A et al. | β | 2022 | β |
| Investigating the genetic architecture of eye colour in a Canadian cohort. | Lona-Durazo F et al. | β | 2022 | β |
| Large-scale association study on daily weight gain in pigs reveals overlap of genetic factors for growth in humans. | Cai Z et al. | β | 2022 | β |
| Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome. | Tyrmi JS et al. | β | 2022 | β |
| Mapping genomic loci implicates genes and synaptic biology in schizophrenia. | Trubetskoy V et al. | β | 2022 | β |
| Meta-analysis fine-mapping is often miscalibrated at single-variant resolution. | Kanai M et al. | β | 2022 | β |
| Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels. | Sarnowski C et al. | β | 2022 | β |
| Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits. | Choudhury A et al. | β | 2022 | β |
| Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels. | Hysi PG et al. | β | 2022 | β |
| Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2. | Pott J et al. | β | 2022 | β |
| Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin. | Joseph CB et al. | β | 2022 | β |
| Methods for statistical fine-mapping and their applications to auto-immune diseases. | Wang QS et al. | β | 2022 | β |
| Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. | Mahajan A et al. | β | 2022 | β |
| Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. | Pervjakova N et al. | β | 2022 | β |
| Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond. | Gaddis N et al. | β | 2022 | β |
| Myasthenia gravis genome-wide association study implicates AGRN as a risk locus. | Topaloudi A et al. | β | 2022 | β |
| Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci. | Reynolds EGM et al. | β | 2022 | β |
| Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus. | Suetsugu H et al. | β | 2022 | β |
| Phosphate transporter PHT1;1 is a key determinant of phosphorus acquisition in Arabidopsis natural accessions. | Chien PS et al. | β | 2022 | β |
| Pinpointing novel risk loci for Lewy body dementia and the shared genetic etiology with Alzheimer's disease and Parkinson's disease: a large-scale multi-trait association analysis. | Guo P et al. | β | 2022 | β |
| Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. | Zhang J et al. | β | 2022 | β |
| Pleiotropic Effects of Common and Rare <i>GCKR</i> Exonic Mutations on Cardiometabolic Traits. | Yeh KH et al. | β | 2022 | β |
| Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals. | Okbay A et al. | β | 2022 | β |
| Polygenic risk modeling for prediction of epithelial ovarian cancer risk. | Dareng EO et al. | β | 2022 | β |
| Population-scale analysis of common and rare genetic variation associated with hearing loss in adults. | Praveen K et al. | β | 2022 | β |
| Relationship between lipids and sleep apnea: Mendelian randomization analysis. | Zhang LP et al. | β | 2022 | β |
| Research on Frequent Itemset Mining of Imaging Genetics GWAS in Alzheimer's Disease. | Liang H et al. | β | 2022 | β |
| Shared genetic susceptibility between trigger finger and carpal tunnel syndrome: a genome-wide association study. | Patel B et al. | β | 2022 | β |
| Single-cell RNA-seq reveals cell type-specific molecular and genetic associations to lupus. | Perez RK et al. | β | 2022 | β |
| Statistical methods for Mendelian randomization in genome-wide association studies: A review. | Boehm FJ et al. | β | 2022 | β |
| Stroke genetics informs drug discovery and risk prediction across ancestries. | Mishra A et al. | β | 2022 | β |
| sumSTAAR: A flexible framework for gene-based association studies using GWAS summary statistics. | Belonogova NM et al. | β | 2022 | β |
| The causal relationship between psoriasis, psoriatic arthritis, and inflammatory bowel diseases. | Sun Y et al. | β | 2022 | β |
| The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians. | Kim YJ et al. | β | 2022 | β |
| The impact of fatty acids biosynthesis on the risk of cardiovascular diseases in Europeans and East Asians: a Mendelian randomization study. | Borges MC et al. | β | 2022 | β |
| The missing link between genetic association and regulatory function. | Connally NJ et al. | β | 2022 | β |
| Trans-genetic effects of circular RNA expression quantitative trait loci and potential causal mechanisms in autism. | Mai TL et al. | β | 2022 | β |
| Transgressive Potential Prediction and Optimal Cross Design of Seed Protein Content in the Northeast China Soybean Population Based on Full Exploration of the QTL-Allele System. | Feng W et al. | β | 2022 | β |
| Trimethylamine N-oxide and its precursors in relation to blood pressure: A mendelian randomization study. | Wang H et al. | β | 2022 | β |
| Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394β694 UK Biobank exomes. | Jiang X et al. | β | 2022 | β |
| Whole-genome sequencing reveals host factors underlying critical COVID-19. | Kousathanas A et al. | β | 2022 | β |
| Your height affects your health: genetic determinants and health-related outcomes in Taiwan. | Chiou JS et al. | β | 2022 | β |
| Advances and challenges in quantitative delineation of the genetic architecture of complex traits. | Tang H et al. | β | 2021 | β |
| A Hierarchical Approach Using Marginal Summary Statistics for Multiple Intermediates in a Mendelian Randomization or Transcriptome Analysis. | Jiang L et al. | β | 2021 | β |
| A large Canadian cohort provides insights into the genetic architecture of human hair colour. | Lona-Durazo F et al. | β | 2021 | β |
| A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects. | Choquet H et al. | β | 2021 | β |
| Allele-specific variation at APOE increases nonalcoholic fatty liver disease and obesity but decreases risk of Alzheimer's disease and myocardial infarction. | Palmer ND et al. | β | 2021 | β |
| A more accurate method for colocalisation analysis allowing for multiple causal variants. | Wallace C | β | 2021 | β |
| An association between chronic widespread pain and the gut microbiome. | Freidin MB et al. | β | 2021 | β |
| An Integrative Transcriptome-Wide Analysis of Amyotrophic Lateral Sclerosis for the Identification of Potential Genetic Markers and Drug Candidates. | Park S et al. | β | 2021 | β |
| An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs. | Cordell HJ et al. | β | 2021 | β |
| An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci. | Mountjoy E et al. | β | 2021 | β |
| Approximate conditional phenotype analysis based on genome wide association summary statistics. | Wu P et al. | β | 2021 | β |
| A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease. | Moll M et al. | β | 2021 | β |
| A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts. | Veturi Y et al. | β | 2021 | β |
| A UVB-responsive common variant at chr7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor gene (<i>AHR</i>) | Xu M et al. | β | 2021 | β |
| A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR. | Xu M et al. | β | 2021 | β |
| Bayesian variable selection with a pleiotropic loss function in Mendelian randomization. | Gkatzionis A et al. | β | 2021 | β |
| Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations. | Cipriani V et al. | β | 2021 | β |
| Brain Magnetic Resonance Imaging Phenome-Wide Association Study With Metal Transporter Gene <i>SLC39A8</i>. | Hermann ER et al. | β | 2021 | β |
| Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis. | AygΓΌn N et al. | β | 2021 | β |
| BTOB: Extending the Biased GWAS to Bivariate GWAS. | Zhu J et al. | β | 2021 | β |
| Challenges of Adjusting Single-Nucleotide Polymorphism Effect Sizes for Linkage Disequilibrium. | Escott-Price V et al. | β | 2021 | β |
| Chromatin Accessibility of Human Mitral Valves and Functional Assessment of MVP Risk Loci. | Kyryachenko S et al. | β | 2021 | β |
| Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. | van Rheenen W et al. | β | 2021 | β |
| Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. | Harper AR et al. | β | 2021 | β |
| Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes. | Acosta-Herrera M et al. | β | 2021 | β |
| COVID-19 susceptibility variants associate with blood clots, thrombophlebitis and circulatory diseases. | Papadopoulou A et al. | β | 2021 | β |
| CYP11B1 variants influence skeletal maturation via alternative splicing. | Grgic O et al. | β | 2021 | β |
| Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. | Boer CG et al. | β | 2021 | β |
| Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. | Graff M et al. | β | 2021 | β |
| Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals. | Stanzick KJ et al. | β | 2021 | β |
| Distinction between the effects of parental and fetal genomes on fetal growth. | Juliusdottir T et al. | β | 2021 | β |
| Eight novel susceptibility loci and putative causal variants in atopic dermatitis. | Tanaka N et al. | β | 2021 | β |
| Estimating the effective sample size in association studies of quantitative traits. | Ziyatdinov A et al. | β | 2021 | β |
| Exome sequencing and analysis of 454,787 UK Biobank participants. | Backman JD et al. | β | 2021 | β |
| Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease. | Jamialahmadi O et al. | β | 2021 | β |
| FGL1 as a modulator of plasma D-dimer levels: Exome-wide marker analysis of plasma tPA, PAI-1, and D-dimer. | Thibord F et al. | β | 2021 | β |
| Genetic analyses of lodging resistance and yield provide insights into post-Green-Revolution breeding in rice. | Guo Z et al. | β | 2021 | β |
| Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility. | Adolphe C et al. | β | 2021 | β |
| Genetic architecture modulates diet-induced hepatic mRNA and miRNA expression profiles in Diversity Outbred mice. | Que E et al. | β | 2021 | β |
| Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning. | Liu Y et al. | β | 2021 | β |
| Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With BehΓ§et's Disease. | Ortiz FernΓ‘ndez L et al. | β | 2021 | β |
| Genetic associations for two biological age measures point to distinct aging phenotypes. | Kuo CL et al. | β | 2021 | β |
| Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies. | Traylor M et al. | β | 2021 | β |
| Genetic determinants of daytime napping and effects on cardiometabolic health. | Dashti HS et al. | β | 2021 | β |
| Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke. | LeskelΓ€ J et al. | β | 2021 | β |
| Genetic variants associated with platelet count are predictive of human disease and physiological markers. | Mikaelsdottir E et al. | β | 2021 | β |
| Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. | Currant H et al. | β | 2021 | β |
| Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade. | Khan Z et al. | β | 2021 | β |
| Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging. | McCartney DL et al. | β | 2021 | β |
| Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease. | Tan MMX et al. | β | 2021 | β |
| Genome-wide association studies of low back pain and lumbar spinal disorders using electronic health record data identify a locus associated with lumbar spinal stenosis. | Suri P et al. | β | 2021 | β |
| Genome-wide association study identifies 18 novel loci associated with left atrial volume and function. | Ahlberg G et al. | β | 2021 | β |
| Genome-Wide Association Study Identifies a Functional <i>SIDT2</i> Variant Associated With HDL-C (High-Density Lipoprotein Cholesterol) Levels and Premature Coronary Artery Disease. | LeΓ³n-Mimila P et al. | β | 2021 | β |
| Genome-wide association study identifies <i>RNF123</i> locus as associated with chronic widespread musculoskeletal pain. | Rahman MS et al. | β | 2021 | β |
| Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. | Simcoe M et al. | β | 2021 | β |
| Genome-wide association study of asthma exacerbations despite inhaled corticosteroid use. | Hernandez-Pacheco N et al. | β | 2021 | β |
| Genome-wide association study of susceptibility to hospitalised respiratory infections. | Williams AT et al. | β | 2021 | β |
| Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank. | Wells HRR et al. | β | 2021 | β |
| Genome-wide fine-mapping identifies pleiotropic and functional variants that predict many traits across global cattle populations. | Xiang R et al. | β | 2021 | β |
| Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease. | Kim W et al. | β | 2021 | β |
| Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes. | Schwartzentruber J et al. | β | 2021 | β |
| Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. | Gharahkhani P et al. | β | 2021 | β |
| Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation. | Min JL et al. | β | 2021 | β |
| GWAS and Post-GWAS High-Resolution Mapping Analyses Identify Strong Novel Candidate Genes Influencing the Fatty Acid Composition of the <i>Longissimus dorsi</i> Muscle in Pigs. | Lee JB et al. | β | 2021 | β |
| GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression. | Wu Y et al. | β | 2021 | β |
| GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome. | Bonfiglio F et al. | β | 2021 | β |
| <i>C. elegans</i> discriminates colors to guide foraging. | Ghosh DD et al. | β | 2021 | β |
| Identification of 22 susceptibility loci associated with testicular germ cell tumors. | Pluta J et al. | β | 2021 | β |
| Identification of Candidate Variants Associated With Bone Weight Using Whole Genome Sequence in Beef Cattle. | Niu Q et al. | β | 2021 | β |
| Identification of pleiotropy at the gene level between psychiatric disorders and related traits. | Polushina T et al. | β | 2021 | β |
| Identification of QTL regions and candidate genes for growth and feed efficiency in broilers. | Li W et al. | β | 2021 | β |
| Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects. | Guo X et al. | β | 2021 | β |
| Improved analyses of GWAS summary statistics by reducing data heterogeneity and errors. | Chen W et al. | β | 2021 | β |
| Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets. | MΓ‘rquez-Luna C et al. | β | 2021 | β |
| Inferred expression regulator activities suggest genes mediating cardiometabolic genetic signals. | Hoskins JW et al. | β | 2021 | β |
| Integrating Genome and Methylome Data to Identify Candidate DNA Methylation Biomarkers for Pancreatic Cancer Risk. | Zhu J et al. | β | 2021 | β |
| Integration of Alzheimer's disease genetics and myeloid genomics identifies disease risk regulatory elements and genes. | Novikova G et al. | β | 2021 | β |
| Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes. | Chou YC et al. | β | 2021 | β |
| Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders. | Yao X et al. | β | 2021 | β |
| Interaction between <i>G</i><i>ALNT12</i> and <i>C1GALT1</i> Associates with Galactose-Deficient IgA1 and IgA Nephropathy. | Wang YN et al. | β | 2021 | β |
| Joint Genome-Wide Association Analyses Identified 49 Novel Loci For Age at Natural Menopause. | Zhang L et al. | β | 2021 | β |
| Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals. | Chen H et al. | β | 2021 | β |
| Leveraging eQTLs to identify individual-level tissue of interest for a complex trait. | Majumdar A et al. | β | 2021 | β |
| MARS: leveraging allelic heterogeneity to increase power of association testing. | Hormozdiari F et al. | β | 2021 | β |
| Meta-Analyses of Splicing and Expression Quantitative Trait Loci Identified Susceptibility Genes of Glioma. | Patro CPK et al. | β | 2021 | β |
| Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus. | Yin X et al. | β | 2021 | β |
| Model checking via testing for direct effects in Mendelian Randomization and transcriptome-wide association studies. | Deng Y et al. | β | 2021 | β |
| Multi-omics analysis identifies CpGs near G6PC2 mediating the effects of genetic variants on fasting glucose. | Chung RH et al. | β | 2021 | β |
| Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases. | Kapoor M et al. | β | 2021 | β |
| Multi-tissue neocortical transcriptome-wide association study implicates 8 genes across 6 genomic loci in Alzheimer's disease. | Gockley J et al. | β | 2021 | β |
| Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction. | Karlsson LinnΓ©r R et al. | β | 2021 | β |
| New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis. | Choquet H et al. | β | 2021 | β |
| New Polygenic Risk Score to Predict High Myopia in Singapore Chinese Children. | Lanca C et al. | β | 2021 | β |
| Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes. | Reynolds EGM et al. | β | 2021 | β |
| Novel genetic variants associated with brain functional networks in 18,445 adults from the UK Biobank. | Foo H et al. | β | 2021 | β |
| Novel Variance-Component TWAS method for studying complex human diseases with applications to Alzheimer's dementia. | Tang S et al. | β | 2021 | β |
| On the use of whole-genome sequence data for across-breed genomic prediction and fine-scale mapping of QTL. | Meuwissen T et al. | β | 2021 | β |
| Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. | Ghoussaini M et al. | β | 2021 | β |
| Pairwise linkage disequilibrium estimation for polyploids. | Gerard D | β | 2021 | β |
| Pharmacogenomic Effects of Ξ²-Blocker Use on Femoral Neck Bone Mineral Density. | Nevola KT et al. | β | 2021 | β |
| Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank. | Valette K et al. | β | 2021 | β |
| Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits. | Patxot M et al. | β | 2021 | β |
| Revisiting genome-wide association studies from statistical modelling to machine learning. | Sun S et al. | β | 2021 | β |
| Sclerostin Downregulation Globally by Naturally Occurring Genetic Variants, or Locally in Atherosclerotic Plaques, Does Not Associate With Cardiovascular Events in Humans. | Holdsworth G et al. | β | 2021 | β |
| Sex- and age-specific genetic analysis of chronic back pain. | Freidin MB et al. | β | 2021 | β |
| Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. | Lagou V et al. | β | 2021 | β |
| Sugar-Sweetened Beverage Consumption May Modify Associations Between Genetic Variants in the CHREBP (Carbohydrate Responsive Element Binding Protein) Locus and HDL-C (High-Density Lipoprotein Cholesterol) and Triglyceride Concentrations. | Haslam DE et al. | β | 2021 | β |
| Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias. | Hikino K et al. | β | 2021 | β |
| The flashfm approach for fine-mapping multiple quantitative traits. | HernΓ‘ndez N et al. | β | 2021 | β |
| The genetic and epigenetic profile of serumΒ S100Ξ² in the Lothian Birth Cohort 1936 and its relationship to Alzheimer's disease. | A Gadd D et al. | β | 2021 | β |
| The Relationship between Blood Lipids and Risk of Atrial Fibrillation: Univariable and Multivariable Mendelian Randomization Analysis. | Yang S et al. | β | 2021 | β |
| The trans-ancestral genomic architecture of glycemic traits. | Chen J et al. | β | 2021 | β |
| Transcriptome-wide Mendelian randomization study prioritising novel tissue-dependent genes for glioma susceptibility. | Robinson JW et al. | β | 2021 | β |
| Trans-Ethnic Fine-Mapping of the Major Histocompatibility Complex Region Linked to Parkinson's Disease. | Naito T et al. | β | 2021 | β |
| Using Composite Phenotypes to Reveal Hidden Physiological Heterogeneity in High-Altitude Acclimatization in a Chinese Han Longitudinal Cohort. | Li Y et al. | β | 2021 | β |
| Utilising multi-large omics data to elucidate biological mechanisms within multiple sclerosis genetic susceptibility loci. | Zhou Y et al. | β | 2021 | β |
| Vitamin D and the Risks of Depression and Anxiety: An Observational Analysis and Genome-Wide Environment Interaction Study. | Zhang Z et al. | β | 2021 | β |
| Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses. | Barton AR et al. | β | 2021 | β |
| Widespread signatures of natural selection across human complex traits and functional genomic categories. | Zeng J et al. | β | 2021 | β |
| A framework for integrating directed and undirected annotations to build explanatory models of cis-eQTL data. | Lamparter D et al. | β | 2020 | β |
| Age-of-onset information helps identify 76 genetic variants associated with allergic disease. | Ferreira MAR et al. | β | 2020 | β |
| A large-scale genome-wide association study meta-analysis of cannabis use disorder. | Johnson EC et al. | β | 2020 | β |
| A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness. | Choquet H et al. | β | 2020 | β |
| An Allele-Specific Functional SNP Associated with Two Systemic Autoimmune Diseases Modulates IRF5 Expression by Long-Range Chromatin Loop Formation. | Thynn HN et al. | β | 2020 | β |
| Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain conditions. | Tsepilov YA et al. | β | 2020 | β |
| An integrative multi-omics analysis to identify candidate DNA methylation biomarkers related to prostate cancer risk. | Wu L et al. | β | 2020 | β |
| A powerful and versatile colocalization test. | Deng Y et al. | β | 2020 | β |
| A powerful fine-mapping method for transcriptome-wide association studies. | Wu C et al. | β | 2020 | β |
| Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data. | Jiang Y et al. | β | 2020 | β |
| Association of CNVs with methylation variation. | Shi X et al. | β | 2020 | β |
| Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk. | Zhao L et al. | β | 2020 | β |
| Beyond large-effect loci: large-scale GWAS reveals a mixed large-effect and polygenic architecture for age at maturity of Atlantic salmon. | Sinclair-Waters M et al. | β | 2020 | β |
| CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies. | Wang J et al. | β | 2020 | β |
| Cerebral small vessel disease genomics and its implications across the lifespan. | Sargurupremraj M et al. | β | 2020 | β |
| Complexities of Understanding Function from CKD-Associated DNA Variants. | Lin J et al. | β | 2020 | β |
| Discovering weaker genetic associations guided by known associations. | Wang H et al. | β | 2020 | β |
| Dissecting the Genetic Regulation of Yeast Growth Plasticity in Response to Environmental Changes. | Zan Y et al. | β | 2020 | β |
| Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis. | Olafsdottir TA et al. | β | 2020 | β |
| Elevated body mass index is associated with an increased risk of infectious disease admissions and mortality: a mendelian randomization study. | Butler-Laporte G et al. | β | 2020 | β |
| Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses. | Wallace C | β | 2020 | β |
| Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics. | Bovijn J et al. | β | 2020 | β |
| Evaluation of causality between ADHD and Parkinson's disease: Mendelian randomization study. | Li GH et al. | β | 2020 | β |
| Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. | Quach BC et al. | β | 2020 | β |
| Fine-mapping genetic associations. | Hutchinson A et al. | β | 2020 | β |
| Fine-scale population structure in the UK Biobank: implications for genome-wide association studies. | Cook JP et al. | β | 2020 | β |
| Functional annotation of genetic associations by transcriptome-wide association analysis provides insights into neutrophil development regulation. | Yao Y et al. | β | 2020 | β |
| Functional fine-mapping of noncoding risk variants in amyotrophic lateral sclerosis utilizing convolutional neural network. | Yousefian-Jazi A et al. | β | 2020 | β |
| Functionally informed fine-mapping and polygenic localization of complex trait heritability. | Weissbrod O et al. | β | 2020 | β |
| Genetically Predicted Levels of DNA Methylation Biomarkers and Breast Cancer Risk: Data From 228β951 Women of European Descent. | Yang Y et al. | β | 2020 | β |
| Genetic Architecture Associated With Familial Short Stature. | Lin YJ et al. | β | 2020 | β |
| Genetic Architecture Modulates Diet-Induced Hepatic mRNA and miRNA Expression Profiles in Diversity Outbred Mice. | Que E et al. | β | 2020 | β |
| Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research. | Rajan R et al. | β | 2020 | β |
| Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC. | Mishra R et al. | β | 2020 | β |
| Genetic drug target validation using Mendelian randomisation. | Schmidt AF et al. | β | 2020 | β |
| Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. | Blauwendraat C et al. | β | 2020 | β |
| Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length. | Li C et al. | β | 2020 | β |
| Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank. | Olafsdottir T et al. | β | 2020 | β |
| Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. | Landi MT et al. | β | 2020 | β |
| Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. | Winkler TW et al. | β | 2020 | β |
| Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. | Fan Q et al. | β | 2020 | β |
| Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration. | Revez JA et al. | β | 2020 | β |
| Genome-Wide Association Study Identifies Genetic Associations with Perceived Age. | Roberts V et al. | β | 2020 | β |
| Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis. | Kwon YC et al. | β | 2020 | β |
| Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors. | Bakker MK et al. | β | 2020 | β |
| Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. | Sarin KY et al. | β | 2020 | β |
| Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration. | Han X et al. | β | 2020 | β |
| Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits. | Zhou H et al. | β | 2020 | β |
| Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels. | Nag A et al. | β | 2020 | β |
| Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals. | Folkersen L et al. | β | 2020 | β |
| Genomic regions associated with muscularity in beef cattle differ in five contrasting cattle breeds. | Doyle JL et al. | β | 2020 | β |
| Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases. | KlariΔ L et al. | β | 2020 | β |
| GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer. | Zhou W et al. | β | 2020 | β |
| Identification of Novel Loci and New Risk Variant in Known Loci for Colorectal Cancer Risk in East Asians. | Lu Y et al. | β | 2020 | β |
| Identification of the ABCC4, IER3, and CBFA2T2 candidate genes for resistance to paratuberculosis from sequence-based GWAS in Holstein and Normande dairy cattle. | Sanchez MP et al. | β | 2020 | β |
| Identification of type 2 diabetes loci in 433,540 East Asian individuals. | Spracklen CN et al. | β | 2020 | β |
| Implicating causal brain imaging endophenotypes in Alzheimer's disease using multivariable IWAS and GWAS summary data. | Knutson KA et al. | β | 2020 | β |
| Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. | Bao EL et al. | β | 2020 | β |
| Interleukin-6 Signaling Effects on Ischemic Stroke and Other Cardiovascular Outcomes: A Mendelian Randomization Study. | Georgakis MK et al. | β | 2020 | β |
| JASS: command line and web interface for the joint analysis of GWAS results. | Julienne H et al. | β | 2020 | β |
| Large genome-wide association study identifies three novel risk variants for restless legs syndrome. | Didriksen M et al. | β | 2020 | β |
| Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids. | van der Graaf A et al. | β | 2020 | β |
| Meta-analysis for milk fat and protein percentage using imputed sequence variant genotypes in 94,321 cattle from eight cattle breeds. | van den Berg I et al. | β | 2020 | β |
| Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia. | Hysi PG et al. | β | 2020 | β |
| Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study. | Hu Y et al. | β | 2020 | β |
| Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. | Craig JE et al. | β | 2020 | β |
| Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits. | Vogelezang S et al. | β | 2020 | β |
| Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases. | Zheng J et al. | β | 2020 | β |
| Primo: integration of multiple GWAS and omics QTL summary statistics for elucidation of molecular mechanisms of trait-associated SNPs and detection of pleiotropy in complex traits. | Gleason KJ et al. | β | 2020 | β |
| Promoter-anchored chromatin interactions predicted from genetic analysis of epigenomic data. | Wu Y et al. | β | 2020 | β |
| Protective effect of club cell secretory protein (CC-16) on COPD risk and progression: a Mendelian randomisation study. | Milne S et al. | β | 2020 | β |
| RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro. | Loh NY et al. | β | 2020 | β |
| Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma. | Dong J et al. | β | 2020 | β |
| Systematic Prioritization of Candidate Genes in Disease Loci Identifies <i>TRAFD1</i> as a Master Regulator of IFNΞ³ Signaling in Celiac Disease. | van der Graaf A et al. | β | 2020 | β |
| The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities. | Beesley LJ et al. | β | 2020 | β |
| The Parkinson's Disease Genome-Wide Association Study Locus Browser. | Grenn FP et al. | β | 2020 | β |
| The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects. | Simcoe MJ et al. | β | 2020 | β |
| Tissue specific regulation of transcription in endometrium and association with disease. | Mortlock S et al. | β | 2020 | β |
| Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease. | Matsunaga H et al. | β | 2020 | β |
| Use of whole-genome sequence data and novel genomic selection strategies to improve selection for age at puberty in tropically-adapted beef heifers. | Warburton CL et al. | β | 2020 | β |
| Variants associated with <i>HHIP</i> expression have sex-differential effects on lung function. | Fawcett KA et al. | β | 2020 | β |
| Whole-genome sequencing analysis of the cardiometabolic proteome. | Gilly A et al. | β | 2020 | β |
| A flexible and parallelizable approach to genome-wide polygenic risk scores. | Newcombe PJ et al. | β | 2019 | β |
| A genome-wide association study identifies genetic loci associated with specific lobar brain volumes. | van der Lee SJ et al. | β | 2019 | β |
| Age-related late-onset disease heritability patterns and implications for genome-wide association studies. | Oliynyk RT | β | 2019 | β |
| A <i>Trans</i>-Ethnic Genome-Wide Association Study of Uterine Fibroids. | Edwards TL et al. | β | 2019 | β |
| Analysis of Over 140,000 European Descendants Identifies Genetically Predicted Blood Protein Biomarkers Associated with Prostate Cancer Risk. | Wu L et al. | β | 2019 | β |
| An integrative approach to detect epigenetic mechanisms that putatively mediate the influence of lifestyle exposures on disease susceptibility. | Richardson TG et al. | β | 2019 | β |
| Benefits and limitations of genome-wide association studies. | Tam V et al. | β | 2019 | β |
| Characterizing rare and low-frequency height-associated variants in the Japanese population. | Akiyama M et al. | β | 2019 | β |
| Combining Understanding of Immunological Mechanisms and Genetic Variants Toward Development of Personalized Medicine for Psoriasis Patients. | Gunter NV et al. | β | 2019 | β |
| Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk. | Pouget JG et al. | β | 2019 | β |
| Evaluating the Potential of Younger Cases and Older Controls Cohorts to Improve Discovery Power in Genome-Wide Association Studies of Late-Onset Diseases. | Oliynyk RT | β | 2019 | β |
| Fine mapping and identification of serum urate loci in American Indians: The Strong Heart Family Study. | Chittoor G et al. | β | 2019 | β |
| Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease. | Jinn S et al. | β | 2019 | β |
| Future Preventive Gene Therapy of Polygenic Diseases from a Population Genetics Perspective. | Oliynyk RT | β | 2019 | β |
| Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases. | An J et al. | β | 2019 | β |
| Generalized meta-analysis for multiple regression models across studies with disparate covariate information. | Kundu P et al. | β | 2019 | β |
| Genetically regulated gene expression underlies lipid traits in Hispanic cohorts. | Andaleon A et al. | β | 2019 | β |
| Genetic predisposition to mosaic Y chromosome loss in blood. | Thompson DJ et al. | β | 2019 | β |
| Genetics and Gene-Environment Interactions in Childhood and Adult Onset Asthma. | Morales E et al. | β | 2019 | β |
| Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936. | Hillary RF et al. | β | 2019 | β |
| Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data. | Shungin D et al. | β | 2019 | β |
| Genome-wide association analysis of 350β000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema. | Johansson Γ et al. | β | 2019 | β |
| Genome-wide association analysis of 95β549 individuals identifies novel loci and genes influencing optic disc morphology. | Han X et al. | β | 2019 | β |
| Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes. | Wang H et al. | β | 2019 | β |
| Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. | Gallagher CS et al. | β | 2019 | β |
| Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. | Watson HJ et al. | β | 2019 | β |
| Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants. | Fung K et al. | β | 2019 | β |
| Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns. | Sliz E et al. | β | 2019 | β |
| Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. | LindstrΓΆm S et al. | β | 2019 | β |
| GSNOR provides plant tolerance to iron toxicity via preventing iron-dependent nitrosative and oxidative cytotoxicity. | Li B et al. | β | 2019 | β |
| GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. | LΓ³pez-Isac E et al. | β | 2019 | β |
| GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank. | Wells HRR et al. | β | 2019 | β |
| Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. | Nalls MA et al. | β | 2019 | β |
| Identification of Novel Susceptibility Loci and Genes for Prostate Cancer Risk: A Transcriptome-Wide Association Study in Over 140,000 European Descendants. | Wu L et al. | β | 2019 | β |
| Improved polygenic prediction by Bayesian multiple regression on summary statistics. | Lloyd-Jones LR et al. | β | 2019 | β |
| Insight into the genetic architecture of back pain and its risk factors from a study of 509,000 individuals. | Freidin MB et al. | β | 2019 | β |
| Leveraging allelic imbalance to refine fine-mapping for eQTL studies. | Zou J et al. | β | 2019 | β |
| Mendelian Randomization Analysis Reveals a Causal Influence of Circulating Sclerostin Levels on Bone Mineral Density and Fractures. | Zheng J et al. | β | 2019 | β |
| Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits. | Porcu E et al. | β | 2019 | β |
| Meta-analysis of genome-wide association studies for loin muscle area and loin muscle depth in two Duroc pig populations. | Zhuang Z et al. | β | 2019 | β |
| Overlap of Genetic Risk between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis. | Hobbs BD et al. | β | 2019 | β |
| Polygenic approaches to detect gene-environment interactions when external information is unavailable. | Lin WY et al. | β | 2019 | β |
| Quantifying the Potential for Future Gene Therapy to Lower Lifetime Risk of Polygenic Late-Onset Diseases. | Oliynyk RT | β | 2019 | β |
| Stochastic search and joint fine-mapping increases accuracy and identifies previously unreported associations in immune-mediated diseases. | Asimit JL et al. | β | 2019 | β |
| The effect of X-linked dosage compensation on complex trait variation. | Sidorenko J et al. | β | 2019 | β |