A global reference for human genetic variation

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

Jun Wang, Qiang Feng, Xiaodong Fang, Xiaosen Guo, Min Jian, Hui Jiang , Xiao Liu, Lin Fang, Hongzhi Cao, Jakob Berg Jespersen

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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.

Originalsprog	Engelsk
Tidsskrift	Nature
Vol/bind	526
Udgave nummer	7571
Sider (fra-til)	68-74
Antal sider	7
ISSN	0028-0836
DOI	https://doi.org/10.1038/nature15393
Status	Udgivet - 30 sep. 2015

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10.1038/nature15393

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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.",

author = "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}",

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T1 - A global reference for human genetic variation

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

PY - 2015/9/30

Y1 - 2015/9/30

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.

U2 - 10.1038/nature15393

DO - 10.1038/nature15393

M3 - Journal article

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A global reference for human genetic variation

Abstract

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