A global reference for human genetic variation

Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis; 1000 Genomes Project Consortium

doi:10.1038/nature15393

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A global reference for human genetic variation

Journal article

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Peer reviewed

A global reference for human genetic variation

Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis, …

Nature (London), Vol.526(7571), pp.68-74

10/01/2015

DOI: 10.1038/nature15393

PMCID: PMC4750478

PMID: 26432245

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https://doi.org/10.1038/nature15393View

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Abstract

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.

Demography

Rare Diseases - genetics

Genome-Wide Association Study

Datasets as Topic

Disease Susceptibility

Physical Chromosome Mapping

Humans

Genetics, Population - standards

Genomics - standards

Genotype

INDEL Mutation - genetics

Sequence Analysis, DNA

Genome, Human - genetics

Haplotypes - genetics

Exome - genetics

Reference Standards

Genetics, Medical

Internationality

Polymorphism, Single Nucleotide - genetics

Genetic Variation - genetics

High-Throughput Nucleotide Sequencing

Quantitative Trait Loci - genetics

Details

Title: Subtitle: A global reference for human genetic variation
Creators: Adam Auton
Lisa D Brooks
Richard M Durbin
Erik P Garrison
Hyun Min Kang
Jan O Korbel
Jonathan L Marchini
Shane McCarthy
Gil A McVean
Gonçalo R Abecasis
1000 Genomes Project Consortium
Contributors: Jacob J Michaelson (Contributor) - University of Iowa, Roy J. Carver Department of Biomedical Engineering
Resource Type: Journal article
Publication Details: Nature (London), Vol.526(7571), pp.68-74
DOI: 10.1038/nature15393
PMID: 26432245
PMCID: PMC4750478
NLM abbreviation: Nature
ISSN: 0028-0836
eISSN: 1476-4687
Publisher: England
Grant note: U01 HG005211 / NHGRI NIH HHS Howard Hughes Medical Institute British Heart Foundation P01GM99568 / NIGMS NIH HHS R01 GM059290 / NIGMS NIH HHS U01HG5715 / NHGRI NIH HHS U01HG6513 / NHGRI NIH HHS R01 HG007022 / NHGRI NIH HHS R01 HG005701 / NHGRI NIH HHS 102541 / Wellcome Trust U54HG3067 / NHGRI NIH HHS DP5 OD009154 / NIH HHS WT098051 / Wellcome Trust BB/I021213/1 / Biotechnology and Biological Sciences Research Council U41 HG007635 / NHGRI NIH HHS DP5OD9154 / NIH HHS R01 HG006855 / NHGRI NIH HHS R01 HL087699 / NHLBI NIH HHS R01 CA166661 / NCI NIH HHS R01HG5214 / NHGRI NIH HHS WT086084/Z/08/Z / Wellcome Trust U01 HG005728 / NHGRI NIH HHS P01 GM099568 / NIGMS NIH HHS T32 GM007790 / NIGMS NIH HHS 090770 / Wellcome Trust RC2HG5552 / NHGRI NIH HHS R01 GM113657 / NIGMS NIH HHS R01HL87699 / NHLBI NIH HHS U54HG3079 / NHGRI NIH HHS R01 HG007644 / NHGRI NIH HHS U01 HG005214 / NHGRI NIH HHS U41 HG002371 / NHGRI NIH HHS DP2OD6514 / NIH HHS BB/I02593X/1 / Biotechnology and Biological Sciences Research Council DP2 OD006514 / NIH HHS R01 CA172652 / NCI NIH HHS 090532/Z/09/Z / Wellcome Trust WT0855322/Z/08/Z / Wellcome Trust R01HG2898 / NHGRI NIH HHS 096599 / Wellcome Trust U01HG5728 / NHGRI NIH HHS R01 GM104390 / NIGMS NIH HHS WT109497 / Wellcome Trust R01HG5701 / NHGRI NIH HHS U01 HG005715 / NHGRI NIH HHS R01 HG002898 / NHGRI NIH HHS 095908 / Wellcome Trust U54 HG003079 / NHGRI NIH HHS R01HG7644 / NHGRI NIH HHS R01 HG007068 / NHGRI NIH HHS WT090770/Z/09/Z / Wellcome Trust R01HG4960 / NHGRI NIH HHS HHSN272201000025C / NIAID NIH HHS U01 HG006513 / NHGRI NIH HHS G0801823 / Medical Research Council WT097307 / Wellcome Trust HHSN268201100040C / NHLBI NIH HHS R01 HG002385 / NHGRI NIH HHS 089276/Z.09/Z / Wellcome Trust 617306 / European Research Council U01 HG005718 / NHGRI NIH HHS T32 HL094284 / NHLBI NIH HHS R01CA166661 / NCI NIH HHS 095552/Z/11/Z / Wellcome Trust U41 HG007497 / NHGRI NIH HHS U01HG5214 / NHGRI NIH HHS U41HG7497 / NHGRI NIH HHS R01 GM108805 / NIGMS NIH HHS RC2 HG005552 / NHGRI NIH HHS R01GM104390 / NIGMS NIH HHS 100956 / Wellcome Trust U01HG5718 / NHGRI NIH HHS U01HG5211 / NHGRI NIH HHS U54 HG003067 / NHGRI NIH HHS R01 DK075787 / NIDDK NIH HHS R01HL104608 / NHLBI NIH HHS U41HG7635 / NHGRI NIH HHS U54HG3273 / NHGRI NIH HHS R01CA172652 / NCI NIH HHS U54 HG003273 / NHGRI NIH HHS 136855 / CIHR R01HG2385 / NHGRI NIH HHS R01HG7068 / NHGRI NIH HHS R01 HL104608 / NHLBI NIH HHS T32GM7790 / NIGMS NIH HHS T32HL94284 / NHLBI NIH HHS R01HG6855 / NHGRI NIH HHS R01 HG004960 / NHGRI NIH HHS R01GM59290 / NIGMS NIH HHS WT100956/Z/13/Z / Wellcome Trust
Language: English
Date published: 10/01/2015
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Communication Sciences and Disorders; Psychiatry; Iowa Neuroscience Institute
Record Identifier: 9984070108102771

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