Uma referência global da variação genética humana

quinta-feira, outubro 01, 2015

A global reference for human genetic variation


The 1000 Genomes Project Consortium

AffiliationsContributionsCorresponding authors

Nature 526, 68–74 (01 October 2015) doi:10.1038/nature15393

Received 12 May 2015 Accepted 20 August 2015 Published online 30 September 2015



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.

Subject terms: Genomics Genetic variation

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