ArticleNature2012
An integrated map of genetic variation from 1,092 human genomes.
Article in Nature, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4,700 papers, 7 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4,700 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Lifecourse genome-wide association study meta-analysis refines the critical life stages for adiposity's influence on breast cancer risk.Science advances · 2026Pooled it
- Genetic determinants of zinc homeostasis and its role in cardiometabolic diseases.PLoS genetics · 2025Pooled it
- Identification of genetically-supported new drug targets for osteomyelitis based on druggable genomes.Human genomics · 2025Pooled it
- Alzheimer disease is (sometimes) highly heritable: Drivers of variation in heritability estimates for binary traits, a systematic review.PLoS genetics · 2025Pooled it
- Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants.Nature communications · 2025Pooled it
- Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.Nature communications · 2025Pooled it
- Polymorphisms within autophagy-related genes as susceptibility biomarkers for pancreatic cancer: A meta-analysis of three large European cohorts and functional characterization.International journal of cancer · 2025Pooled it
- Increased chromatin accessibility following 1α,25-dihydroxyvitamin DToxicology and applied pharmacology · 2026Article
- Genomic structural variations distinguishing archaic and modern humans are associated with neurodevelopment.iScience · 2026Article
- Dissecting immune-psychiatric links: a Mendelian randomization analysis of antibody-mediated responses and mental health disorders.European archives of psychiatry and clinical neuroscience · 2026Article
- Whole-Exome Sequencing Reveals the Genetic Landscape and Genotype-Phenotype Spectrum of Dystonia in a Chinese Cohort.CNS neuroscience & therapeutics · 2026Article
- Multi-Omics Genome-Wide to Explore the Formation and Development Targets for Intracranial Aneurysms.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Genome-wide association meta-analysis of eating behavior traits revealed one susceptibility locus for emotional eating.Molecular psychiatry · 2026Article
- Article
- Rare variant effect estimation and polygenic risk prediction.Nature genetics · 2026Article
- Genetic architecture of cytokine autoantibodies and associated risk of common diseases.Nature communications · 2026Article
- Estimating genetic correlation jointly using individual-level and summary-level GWAS data.Nature communications · 2026Article
- Biobank-scale genotype similarity search and dynamic patient-matched cohort creation with GenoSiS.Genome research · 2026Article
- Ancestry, admixture, and pathogens in contemporaneous Neolithic farmers and foragers on the Island of Gotland.Communications biology · 2026Article
- Equal in death: Ancient genomic analysis of children's early Christian burials.Science advances · 2026Article
4,640 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.
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Registered trials
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.