A global reference for human genetic variation Public Deposited

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  • Li, Yun
    • Affiliation: School of Medicine, Department of Genetics, Gillings School of Global Public Health, Department of Biostatistics
  • The 1000 Genomes Project Consortium
  • 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.
Date of publication
  • doi:10.1038/nature15393
  • 2-s2.0-84943171338
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Resource type
  • Journal Item
Rights statement
  • In Copyright
Journal title
  • Nature
Journal volume
  • 526
Journal issue
  • 7571
Page start
  • 68
Page end
  • 74
  • English
  • Postprint
  • 1476-4687

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