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A global reference for human genetic variation.

Authors
  • Auton, Adam
  • Brooks, Lisa D
  • Durbin, Richard M
  • Garrison, Erik P
  • Kang, Hyun Min
  • Korbel, Jan O
  • Marchini, Jonathan L
  • McCarthy, Shane
  • McVean, Gil A
  • Abecasis, Gonçalo R
Type
Published Article
Journal
Nature
Publisher
Springer Nature
Publication Date
Oct 01, 2015
Volume
526
Issue
7571
Pages
68–74
Identifiers
DOI: 10.1038/nature15393
PMID: 26432245
Source
Medline
License
Unknown

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.

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