articleNatureSep 29, 2015HYBRID OA

A global reference for human genetic variation

CACorresponding authorsAAAdam AutonGRGonçalo R. AbecasisDMDavid M. AltshulerRDRichard Durbin

Albert Einstein College of Medicine · University of Michigan · +128 more institutions

PubMed
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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…

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Topics & keywords

Topics
Keywords
  • 1000 Genomes Project
  • Genome
  • Biology
  • Reference genome
  • Genetic variation
  • Exome sequencing
  • Single-nucleotide polymorphism
  • Genetics
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