Details

Autor(en) / Beteiligte

• Auton, Adam
• Brooks, Lisa D
• Durbin, Richard M
• Garrison, Erik P
• Kang, Hyun Min
• Korbel, Jan O
• Marchini, Jonathan L
• McCarthy, Shane
• McVean, Gil A
• Abecasis, Gonçalo R

Titel

A global reference for human genetic variation

Ist Teil von

• Nature (London), 2015-10, Vol.526 (7571), p.68-74

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2015

Quelle

EBSCOhost Psychology and Behavioral Sciences Collection

Beschreibungen/Notizen

• 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.