A Global Reference for Human Genetic Variation

Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Datasets as Topic
  • Demography
  • Disease Susceptibility
  • Exome / genetics
  • Genetic Variation / genetics*
  • Genetics, Medical
  • Genetics, Population / standards*
  • Genome, Human / genetics*
  • Genome-Wide Association Study
  • Genomics / standards*
  • Genotype
  • Haplotypes / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • INDEL Mutation / genetics
  • Internationality*
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide / genetics
  • Quantitative Trait Loci / genetics
  • Rare Diseases / genetics
  • Reference Standards
  • Sequence Analysis, DNA

Grant support