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A global reference for human genetic variation.

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.

SUBMITTER: 1000 Genomes Project Consortium

PROVIDER: S-EPMC4750478 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

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A global reference for human genetic variation.

Auton Adam A Brooks Lisa D LD Durbin Richard M RM Garrison Erik P EP Kang Hyun Min HM Korbel Jan O JO Marchini Jonathan L JL McCarthy Shane S McVean Gil A GA Abecasis Gonçalo R GR

Nature 20151001 7571

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 o ...[more]

PMID: 26432245

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