A global reference for human genetic variation.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • 1000 Genomes Project Consortium, ; Auton, A; Brooks, LD; Durbin, RM; Garrison, EP; Kang, HM; Korbel, JO; Marchini, JL; McCarthy, S; McVean, GA; Abecasis, GR

Published Date

  • October 2015

Published In

Volume / Issue

  • 526 / 7571

Start / End Page

  • 68 - 74

PubMed ID

  • 26432245

Pubmed Central ID

  • PMC4750478

Electronic International Standard Serial Number (EISSN)

  • 1476-4687

International Standard Serial Number (ISSN)

  • 0028-0836

Digital Object Identifier (DOI)

  • 10.1038/nature15393


  • eng