MIT Libraries logoDSpace@MIT

MIT
View Item 
  • DSpace@MIT Home
  • MIT Open Access Articles
  • MIT Open Access Articles
  • View Item
  • DSpace@MIT Home
  • MIT Open Access Articles
  • MIT Open Access Articles
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

A global reference for human genetic variation

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; Shlyakhter, Ilya; Schaffner, Stephen F; Vitti, Joseph; Hartler, Christina M.; Tariyal, Ridhi; Daly, Mark J.; Gymrek, Melissa A.; ... Show more Show less
Thumbnail
DownloadLander_A global reference.pdf (5.510Mb)
OPEN_ACCESS_POLICY

Open Access Policy

Creative Commons Attribution-Noncommercial-Share Alike

Terms of use
Creative Commons Attribution-Noncommercial-Share Alike http://creativecommons.org/licenses/by-nc-sa/4.0/
Metadata
Show full item record
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.
Date issued
2015-10
URI
http://hdl.handle.net/1721.1/106540
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
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
ISSN
0028-0836
1476-4687

Collections
  • MIT Open Access Articles

Browse

All of DSpaceCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects

My Account

Login

Statistics

OA StatisticsStatistics by CountryStatistics by Department
MIT Libraries
PrivacyPermissionsAccessibilityContact us
MIT
Content created by the MIT Libraries, CC BY-NC unless otherwise noted. Notify us about copyright concerns.