Altshuler, DM;
Durbin, RM;
Abecasis, GR;
Bentley, DR;
Chakravarti, A;
Clark, AG;
Donnelly, P;
... Abecasis, GR; + view all
(2015)
A global reference for human genetic variation.
NATURE
, 526
(7571)
68-+.
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.
| Type: | Article |
|---|---|
| Title: | A global reference for human genetic variation |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/nature15393 |
| Publisher version: | http://dx.doi.org/10.1038/nature15393 |
| Additional information: | This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported licence. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons licence, users will need to obtain permission from the licence holder to reproduce the material. |
| Keywords: | Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, GENOME-WIDE ASSOCIATION, COMPLEMENT FACTOR-H, MACULAR DEGENERATION, POPULATION HISTORY, BAYES FACTORS, MUTATION, DISEASE, VARIANT, SUSCEPTIBILITY, INDIVIDUALS |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Cancer Bio |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1478428 |
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