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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

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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: 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

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