A global reference for human genetic variation

Cooper, David Neil, Ball, Edward V., Stenson, Peter Daniel and The 1000 Genomes Project Consortium, 2015. A global reference for human genetic variation. Nature 526 , pp. 68-74. 10.1038/nature15393

Preview

PDF - Published Version Available under License Creative Commons Attribution. Download (9MB) | Preview

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics
Additional Information:	For a full list of authors who contributed to this article please follow the links to the publisher page.
Publisher:	Nature Publishing Group
ISSN:	1476-4687
Date of First Compliant Deposit:	30 March 2016
Date of Acceptance:	20 August 2015
Last Modified:	10 Jun 2019 14:19
URI:	http://orca.cf.ac.uk/id/eprint/84393

Citation Data

Cited 2875 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item