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A Short History of the Genome-Wide Association Study: Where We Were and Where We Are Going
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1007/s00774-010-0230-zopenalex-snapshot
Cloning and characterization of the osteoarthritis-associated gene DVWA
inferredcites →https://doi.org/10.1007/s100380200092openalex-snapshot
Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190 562 genetic variations in the human genome
inferredcites →https://doi.org/10.1038/35057062openalex-snapshot
Initial sequencing and analysis of the human genome
inferredcites →https://doi.org/10.1038/nature03001openalex-snapshot
Finishing the euchromatic sequence of the human genome
inferredcites →https://doi.org/10.1038/nature04226openalex-snapshot
A haplotype map of the human genome
inferredcites →https://doi.org/10.1038/ng.1087openalex-snapshot
Meta-analysis identifies common variants associated with body mass index in east Asians
inferredcites →https://doi.org/10.1038/ng.176openalex-snapshot
Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis
inferredcites →https://doi.org/10.1038/ng.2352openalex-snapshot
Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations
inferredcites →https://doi.org/10.1038/ng.74openalex-snapshot
Common variants in the GDF5-UQCC region are associated with variation in human height
inferredcites →https://doi.org/10.1038/ng.939openalex-snapshot
Large-scale genome-wide association studies in east Asians identify new genetic loci influencing metabolic traits
inferredcites →https://doi.org/10.1038/ng1047openalex-snapshot
Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction
inferredcites →https://doi.org/10.1038/ng1206openalex-snapshot
Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis
inferredcites →https://doi.org/10.1073/pnas.0307971100openalex-snapshot
Whole-genome shotgun assembly and comparison of human genome assemblies
inferredcites →https://doi.org/10.1073/pnas.1119899109openalex-snapshot
Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis
inferredcites →https://doi.org/10.1086/432962openalex-snapshot
Recent Developments in Genomewide Association Scans: A Workshop Summary and Review
inferredcites →https://doi.org/10.1093/hmg/ddi093openalex-snapshot
A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese
inferredcites →https://doi.org/10.1093/nar/30.1.158openalex-snapshot
JSNP: a database of common gene variations in the Japanese population
inferredcites →https://doi.org/10.1126/science.1112014openalex-snapshot
The Transcriptional Landscape of the Mammalian Genome
inferredcites →https://doi.org/10.1126/science.318.5858.1842openalex-snapshot
Human Genetic Variation
inferredcites →https://doi.org/10.1371/journal.pone.0019641openalex-snapshot
Common Variants in a Novel Gene, FONG on Chromosome 2q33.1 Confer Risk of Osteoporosis in Japanese
inferredcites →https://doi.org/10.2337/diabetes.52.11.2848openalex-snapshot
Association of Solute Carrier Family 12 (Sodium/Chloride) Member 3 With Diabetic Nephropathy, Identified by Genome-Wide Analyses of Single Nucleotide Polymorphisms
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
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GWAS for genetics of complex quantitative traits: Genome to pangenome and SNPs to SVs and k‐mers
inferred← citeshttps://doi.org/10.1002/gepi.22523openalex-snapshot
Effect of case and control definitions on genome‐wide association study (GWAS) findings
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Genomic dissection of productivity, lodging, and morpho‐physiological traits in Eragrostis tef under contrasting water availabilities
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Prospective avenues for human population genomics and disease mapping in southern Africa
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Genome-wide association studies on prostate cancer: the end or the beginning?
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Examining Barriers and Opportunities of Conducting Genome-Wide Association Studies in Developing Countries
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Polycystic Ovarian Syndrome: A Review of Multi-omics Analyses
inferred← citeshttps://doi.org/10.1016/b978-0-12-419988-0.00011-0openalex-snapshot
Rare Diseases and Common Diseases: Understanding their Fundamental Differences
inferred← citeshttps://doi.org/10.1016/b978-0-12-814393-3.00005-6openalex-snapshot
The Precision of the Rare Diseases
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Trapped by Evolution
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Finding relationships among biological entities
inferred← citeshttps://doi.org/10.1016/j.avsg.2024.04.022openalex-snapshot
The Role of Genetics in Managing Peripheral Arterial Disease
inferred← citeshttps://doi.org/10.1016/j.bcp.2013.08.026openalex-snapshot
Biomarkers in pharmacology and drug discovery
inferred← citeshttps://doi.org/10.1016/j.bpsgos.2025.100604openalex-snapshot
Multisite, Multiancestry Genome-Wide Association Study Meta-Analysis of Functional Seizure Disorder in a Hospital Sample of 675,680 Patients
inferred← citeshttps://doi.org/10.1016/j.disamonth.2025.101983openalex-snapshot
Schizophrenia and psychosis in children and adolescents: An inspiring journey of scientific progress and the rich influences of history and religion
inferred← citeshttps://doi.org/10.1016/j.euroneuro.2014.08.006openalex-snapshot
Genome-wide association studies of suicidal behaviors: A review
inferred← citeshttps://doi.org/10.1016/j.exger.2015.06.014openalex-snapshot
Genetic determinants of swallowing impairments among community dwelling older population
inferred← citeshttps://doi.org/10.1016/j.gene.2020.144840openalex-snapshot
Common polymorphisms in MC4R and FTO genes are associated with BMI and metabolic indicators in Mexican children: Differences by sex and genetic ancestry
inferred← citeshttps://doi.org/10.1016/j.livsci.2024.105430openalex-snapshot
The contribution of whole-genome sequence data to genome-wide association studies in livestock: Outcomes and perspectives
inferred← citeshttps://doi.org/10.1016/j.molcel.2020.09.025openalex-snapshot
A Highly Scalable Method for Joint Whole-Genome Sequencing and Gene-Expression Profiling of Single Cells
inferred← citeshttps://doi.org/10.1016/j.psj.2025.105324openalex-snapshot
Genome-wide association study reveals the genetic mechanism of wing bone strength in Cornish White
inferred← citeshttps://doi.org/10.1016/j.tpb.2025.04.003openalex-snapshot
Mathematical bounds on r 2 and the effect size in case-control genome-wide association studies
inferred← citeshttps://doi.org/10.1016/j.xplc.2022.100300openalex-snapshot
Unlocking plant metabolic diversity: A (pan)-genomic view
inferred← citeshttps://doi.org/10.1017/cbo9781139519502.033openalex-snapshot
Research: Mediators and Moderators
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Germline polymorphisms in the immunoglobulin kappa and lambda loci underpinning antibody light chain repertoire variability
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Evolution, genetic diversity, and health
inferred← citeshttps://doi.org/10.1080/03014460.2023.2215546openalex-snapshot
Human height: a model common complex trait
inferred← citeshttps://doi.org/10.1088/1755-1315/762/1/012047openalex-snapshot
Admixture study of Ongole grade cattle based on genome-wide SNP data
inferred← citeshttps://doi.org/10.1093/braincomms/fcae477openalex-snapshot
Polygenic risk scores for atrial fibrillation and heart failure and the risk of stroke and dementia
inferred← citeshttps://doi.org/10.1093/nargab/lqab065openalex-snapshot
DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies
inferred← citeshttps://doi.org/10.1093/tbm/ibz044openalex-snapshot
Behavioral and social scientists’ reflections on genomics: a systematic evaluation within the Society of Behavioral Medicine
inferred← citeshttps://doi.org/10.1101/2025.03.18.644029openalex-snapshot
Causal variant capture in genotype discovery approaches drives polygenic prediction performance across traits and populations
inferred← citeshttps://doi.org/10.1109/pdp62718.2024.00043openalex-snapshot
Efficient GPU Processing Method to Analyze Large GWAS Data Sets
inferred← citeshttps://doi.org/10.1134/s1022795420070121openalex-snapshot
Genome-Wide Association Studies in Suicidology: A Review of Recent Achievements
inferred← citeshttps://doi.org/10.1136/bjo-2024-326554openalex-snapshot
Genome-wide association studies, Polygenic Risk Scores and Mendelian randomisation: an overview of common genetic epidemiology methods for ophthalmic clinicians
inferred← citeshttps://doi.org/10.1146/annurev-biodatasci-122320-112352openalex-snapshot
Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS
inferred← citeshttps://doi.org/10.1158/2159-8290.cd-16-0023openalex-snapshot
Dissection of the Major Hematopoietic Quantitative Trait Locus in Chromosome 6q23.3 Identifies miR-3662 as a Player in Hematopoiesis and Acute Myeloid Leukemia
inferred← citeshttps://doi.org/10.11606/d.95.2019.tde-26082019-145407openalex-snapshot
Herdabilidade e Estudo de Associação Genômica Ampla (GWAS) de atividade física autorreportada: uma investigação de famílias brasileiras
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GWAS for Defining the Pathogenesis of Hypertension: Have They Delivered?
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Genome-wide association study of salt tolerance at the seed germination stage in lettuce
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Biological and Aetiological Inference from the Statistical Genetic Analyses of Blood Cell Traits
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The Evolutionary Biology of Religious Behavior
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Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics
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Establishing Best Practices for Clinical GWAS: Tackling Imputation and Data Quality Challenges
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Toward a Molecular Reclassification of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Integrating Multi-Omics, Machine Learning, and Precision Medicine
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Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer
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Multi-Stage Graph Attention Networks for Interpretable Alzheimer’s Disease Classification from Genome-Wide Association Data
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Technological Approaches to Human Performance Enhancement
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