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.

Original language	English
Journal	Nature
Volume	526
Issue number	7571
Pages (from-to)	68-74
Number of pages	7
ISSN	0028-0836
DOIs	https://doi.org/10.1038/nature15393
Publication status	Published - 30 Sept 2015

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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.",

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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