A global reference for human genetic variation

Adam Auton; Goncalo R. Abecasis; David M. Altshuler; Richard M. Durbin; David R. Bentley; Aravinda Chakravarti; Andrew G. Clark; Peter Donnelly; Evan E. Eichler; Paul Flicek; Jun Wang; Qiang Feng; Xiaodong Fang; Xiaosen Guo; Min Jian; Hui Jiang; Xiao Liu; Lin Fang; Hongzhi Cao; Jakob Berg Jespersen

doi:10.1038/nature15393

A global reference for human genetic variation

Adam Auton
, Goncalo R. Abecasis
, David M. Altshuler
, Richard M. Durbin
, David R. Bentley
, Aravinda Chakravarti
, Andrew G. Clark
, Peter Donnelly
, Evan E. Eichler
, Paul Flicek
, Jun Wang
, Qiang Feng
, Xiaodong Fang
, Xiaosen Guo
, Min Jian
, Hui Jiang
, Xiao Liu
, Lin Fang
, Hongzhi Cao
, Jakob Berg Jespersen

Albert Einstein College of Medicine of Yeshiva University
Vertex Pharmaceuticals, Inc.
Wellcome Sanger Institute
Chesterford Research Park
Johns Hopkins University
Cornell University
University of Oxford
University of Washington
University of Copenhagen
University of Michigan, Ann Arbor
European Bioinformatics Institute

Research output: Contribution to journal › Journal article › Research › peer-review

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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.

Original language	English
Journal	Nature
Volume	526
Pages (from-to)	68-74
Number of pages	20
ISSN	0028-0836
DOIs	https://doi.org/10.1038/nature15393
Publication status	Published - 2015

Bibliographical note

For a complete author list see article.

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported licence. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons licence, users will need to obtain permission from the licence holder to reproduce the material. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-sa/3.0/.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Genomics
Genetic variation

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title = "A global reference for human genetic variation",

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.",

keywords = "Genomics, Genetic variation",

author = "Adam Auton and Abecasis, \{Goncalo R.\} and \{M. Altshuler\}, David and \{M. Durbin\}, Richard and \{R. Bentley\}, David and Aravinda Chakravarti and \{G. Clark\}, Andrew and Peter Donnelly and \{E. Eichler\}, Evan and Paul Flicek and Jun Wang and Qiang Feng and Xiaodong Fang and Xiaosen Guo and Min Jian and Hui Jiang and Xiao Liu and Lin Fang and Hongzhi Cao and Jespersen, \{Jakob Berg\}",

note = "For a complete author list see article. This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported licence. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons licence, users will need to obtain permission from the licence holder to reproduce the material. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-sa/3.0/.",

year = "2015",

doi = "10.1038/nature15393",

language = "English",

volume = "526",

pages = "68--74",

journal = "Nature",

issn = "0028-0836",

publisher = "Nature Research",

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TY - JOUR

T1 - A global reference for human genetic variation

AU - Auton, Adam

AU - Abecasis, Goncalo R.

AU - M. Altshuler, David

AU - M. Durbin, Richard

AU - R. Bentley, David

AU - Chakravarti, Aravinda

AU - G. Clark, Andrew

AU - Donnelly, Peter

AU - E. Eichler, Evan

AU - Flicek, Paul

AU - Wang, Jun

AU - Feng, Qiang

AU - Fang, Xiaodong

AU - Guo, Xiaosen

AU - Jian, Min

AU - Jiang, Hui

AU - Liu, Xiao

AU - Fang, Lin

AU - Cao, Hongzhi

AU - Jespersen, Jakob Berg

N1 - For a complete author list see article. This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported licence. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons licence, users will need to obtain permission from the licence holder to reproduce the material. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-sa/3.0/.

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

KW - Genomics

KW - Genetic variation

U2 - 10.1038/nature15393

DO - 10.1038/nature15393

M3 - Journal article

C2 - 26432245

SN - 0028-0836

VL - 526

SP - 68

EP - 74

JO - Nature

JF - Nature

ER -

A global reference for human genetic variation

Abstract

Bibliographical note

UN SDGs

Keywords

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