A global reference for human genetic variation.
Nature, 2015/10/01;526(7571):68-74.
1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR
PMID: 26432245DOI: 10.1038/nature15393
Impact factor: 69.504
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.
MeSH terms
Datasets as Topic; Demography; Disease Susceptibility; Exome; Genetic Variation; Genetics, Medical; Genetics, Population; Genome, Human; Genome-Wide Association Study; Genomics; Genotype; Haplotypes; High-Throughput Nucleotide Sequencing; Humans; INDEL Mutation; Internationality; Physical Chromosome Mapping; Polymorphism, Single Nucleotide; Quantitative Trait Loci; Rare Diseases; Reference Standards; Sequence Analysis, DNA
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