A Global Reference for Human Genetic Variation

• NCJ Number: 249620
• Journal: Nature Volume: 526 Issue: 7571 Dated: October 2015 Pages: 68-74
• Author(s): Adam Auton; Lisa D. Brooks; Richard M. Durbin; Erik P. Garrison; Hyun Min Kang; Jan O. Korbel; Jonathan L. Marchini; Shane Mccarthy; Gil A. Mcvean; Gonçalo R. Abecasis
• Date Published: October 2015
• Length: 7 pages
• Grant Number(s): 2014-DN-BX-K089
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical)
• Award: Robust STR calling from High-throughput Sequencing Technologies

Annotation

This article reports completion of the 1000 Genomes Project, whose objective was to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations.

Abstract

The project 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. The project 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 greater than 99 percent of SNP variants with a frequency greater than 1 percent for a variety of ancestries. It describes the distribution of genetic variation across the global sample, and discusses the implications for common disease studies. (Publisher abstract modified)