A global reference for human genetic variation Academic Article uri icon

Overview

MeSH Major

  • Genetic Variation
  • Genetics, Population
  • Genome, Human
  • Genomics
  • Internationality

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.

authors

publication date

  • September 30, 2015

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC4750478

Digital Object Identifier (DOI)

  • 10.1038/nature15393

PubMed ID

  • 26432245

Additional Document Info

start page

  • 68

end page

  • 74

volume

  • 526

number

  • 7571