ArticleNature2010
Integrating common and rare genetic variation in diverse human populations.
Article in Nature, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,792 papers, 5 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1,792 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Genetic architecture and cross-platform validation of apolipoprotein A-IV concentrations.Genome biology · 2026Pooled it
- Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry.Nature human behaviour · 2025Pooled it
- Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.Nature genetics · 2025Pooled it
- Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.Nature communications · 2025Pooled it
- Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.Nature genetics · 2025Pooled it
- Determinants of Response to Sequential Pembrolizumab with Trastuzumab plus Platinum/5-FU in HER2-Positive Gastric Cancer: A Phase II Chemoimmunotherapy Trial.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Trial
- The clinical utility of exome sequencing for risk stratification in celiac disease.Journal of human immunity · 2026Article
- Multi-omic spatial mapping of the human habenula defines the molecular and anatomical organization of medial and lateral subregions.bioRxiv : the preprint server for biology · 2026Article
- Integration of polygenic risk with single cell methylation data using met-scDRS.Bioinformatics (Oxford, England) · 2026Article
- Single-cell analysis of chromatin accessibility in the human intestine identifies regulatory programs and clarifies genetic associations in Crohn's disease.Nature genetics · 2026Article
- Genetic architecture of MRI-derived cervical spinal cord morphology reveals sensory-motor axis and systemic disease associations.Nature communications · 2026Article
- Pleiotropy and eQTL analysis identify shared genetic architecture of lipid traits in African-ancestry populations.Human molecular genetics · 2026Article
- Rare extreme polygenic risk scores strongly indicate Alzheimer's disease risk.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Evaluating a Genome-Wide Polygenic Score for Handgrip Strength and Its Interplay with Leisure-Time Physical Activity Across the IGEMS Twin Cohorts.Medicine and science in sports and exercise · 2026Article
- Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism.Current issues in molecular biology · 2026Article
- Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder.Research square · 2026Article
- TLS-Tractor: A transfer learning framework for incorporating summary-statistics into local ancestry-aware GWAS in admixed populations.medRxiv : the preprint server for health sciences · 2026Article
- Integrating immune-cell transcriptomic data with Mendelian randomisation reveals novel causal genes for type 2 diabetes and its complications.Diabetologia · 2026Article
- Genetic pleiotropy differentially linking brain variation to cannabis use and cannabis use disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
1,732 more citing papers are in PubMed but not listed here.
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89 authors.
Funding
Abstract
Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of <or=5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.