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 |
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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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