A global reference for human genetic variation

• Main Authors: The 1000 Genomes Project Consortium (Author), Gabriel, Stacey (Contributor), Lander, Eric Steven (Contributor), Banks, Eric (Contributor), Bhatia, Gaurav (Contributor), Kashin, Seva (Contributor), McCarroll, Steven A (Contributor), Nemesh, James (Contributor), Poplin, Ryan E. (Contributor), Sabeti, Pardis (Contributor), Shlyakhter, Ilya (Contributor), Schaffner, Stephen F (Contributor), Vitti, Joseph (Contributor), Hartler, Christina M. (Contributor), Tariyal, Ridhi (Contributor), Daly, Mark J. (Author), Gymrek, Melissa A. (Author)
• Other Authors: Institute for Medical Engineering and Science (Contributor), Broad Institute of MIT and Harvard (Contributor), Lincoln Laboratory (Contributor), Massachusetts Institute of Technology. Department of Biology (Contributor), Daly, Mark J (Contributor), Gymrek, Melissa A (Contributor)
• Format: Article
• Language: English
• Published: Nature Publishing Group, 2017-01-19T20:20:17Z.
• Subjects: Article
• Online Access: Get fulltext

 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.