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
Language
- eng