A global reference for human genetic variation
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Lander_A global reference.pdf
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5.51 MB
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Author(s)
The 1000 Genomes Project Consortium
Gabriel, Stacey
Lander, Eric Steven
Banks, Eric
Bhatia, Gaurav
Kashin, Seva
McCarroll, Steven A
Nemesh, James
Poplin, Ryan E.
Sabeti, Pardis
Date Issued
October 2015
Journal
Nature
Publisher
Nature Publishing Group
Citation
Auton, Adam, Gonçalo R. Abecasis, David M. Altshuler, et al. “A Global Reference for Human Genetic Variation.” Nature, vol. 526, no. 7571, 2015, pp. 68–74.
Version
Author's final manuscript
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.
MIT Department
Massachusetts Institute of Technology. Institute for Medical Engineering & Science
Broad Institute of MIT and Harvard
Lincoln Laboratory
Massachusetts Institute of Technology. Department of Biology
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Creative Commons Attribution-Noncommercial-Share Alike
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DOI of Published Version
https://doi.org/10.1038/nature15393
