ArticleNature2010
A map of human genome variation from population-scale sequencing.
Article in Nature, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT02832843 (Elucidation of Genetic Susceptibility of Patients With Nontuberculous Mycobacterial Lung Disease Using Genome-Wide Association Study), which is not on this map. Cited by 4,689 papers, 9 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.
Elucidation of Genetic Susceptibility of Patients With Nontuberculous Mycobacterial Lung Disease Using Genome-Wide Association Study
Who cites it
4,689 citing papers in PubMed, 9 syntheses or guidelines pooled it.
- Multi-ancestry genetic architecture of heart failure subtypes.Nature communications · 2026Pooled it
- Multi-ancestry genome-wide association analyses of polycystic ovary syndrome.Nature genetics · 2025Pooled it
- Association between mitochondrial DNA copy number and the risk of Parkinson's disease: a meta-analysis and Mendelian randomization study.BMC neurology · 2025Pooled it
- Cardiovascular diseases and depression: A meta-analysis and Mendelian randomization analysis.Molecular psychiatry · 2025Pooled it
- Cross-ancestry genome-wide association study and systems-level integrative analyses implicate new risk genes and therapeutic targets for depression.Nature human behaviour · 2025Pooled it
- From teeth to bone: dental caries has causal effects on osteoporosis and osteoporotic fracture.BMC oral health · 2025Pooled it
- Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups.Nature genetics · 2025Pooled it
- Association Between Cognitive Impairment and Dysphagia: A Two-Sample Mendelian Randomization Study.Brain and behavior · 2025Pooled it
- The genomic architecture of circulating cytokine levels points to drug targets for immune-related diseases.Communications biology · 2025Pooled it
- Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.HGG advances · 2026Article
- No genome-wide correlations and little shared genetic architecture between reproductive life-history traits and estrogen receptor-positive breast cancer risk.Molecular biology and evolution · 2026Article
- Novel genetic profile linked to cognitive decline in Hispanics/Latinos.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Recurrent deletions and regulatory disruption of the Y chromosome in cancer.Communications biology · 2026Article
- Genome-wide analysis of 439 mass spectrometry-based proteomic profiles in a population of 15,035 Scottish individuals.Nature communications · 2026Article
- Genomic Features Do Not Account for Differences in Multiple Myeloma Risk by Ancestry.Blood cancer discovery · 2026Article
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- PDLIM4 promotes dephosphorylation of STAT transcription factors by recruiting PTP-BL and inhibits Th1, Th2, and Th17 cell differentiation.International immunology · 2026Article
- Causal association between cataract and psychiatric disorders: A bidirectional 2-sample Mendelian randomization study.Medicine · 2026Article
- Integrating biological pathway polygenic scores and trauma in psychosis: findings from the EU-GEI study.Translational psychiatry · 2026Article
- Mendelian randomization reveals the causal relationship between cholecystectomy and ischemic stroke.BMC neurology · 2026Article
4,629 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
- Erratum issuedXue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Debo
Authors and funding
9 authors.
Funding
Abstract
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data set. On average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders. We demonstrate how these results can be used to inform association and functional studies. From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10(-8) per base pair per generation. We explore the data with regard to signatures of natural selection, and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked sites. These methods and public data will support the next phase of human genetic research.
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What OpenQuestion holds
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.