A global reference for human genetic variation

The 1000 Genomes Project Consortium, Auton, Adam, Abecasis, Gonçalo R., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Ball, Edward V. and Stenson, Peter D. 2015. A global reference for human genetic variation. Nature 526 , pp. 68-74. 10.1038/nature15393

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics
Additional Information:	The 1000 Genomes Project Consortium - For a full list of authors who contributed to this article please follow the links on the publisher's page. Corresponding authors Adam Auton, Gonçalo R. Abecasis. Human Gene Mutation Database David N. Cooper (Principal Investigator), Edward V. Ball, Peter D. Stenson.
Publisher:	Nature
ISSN:	0028-0836
Date of First Compliant Deposit:	30 March 2016
Date of Acceptance:	20 August 2015
Last Modified:	06 May 2023 04:42
URI:	https://orca.cardiff.ac.uk/id/eprint/84393

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