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A global reference for human genetic variation.

Publication ,  Journal Article
1000 Genomes Project Consortium, ; Auton, A; Brooks, LD; Durbin, RM; Garrison, EP; Kang, HM; Korbel, JO; Marchini, JL; McCarthy, S; McVean, GA ...
Published in: Nature
October 2015

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.

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Published In

Nature

DOI

EISSN

1476-4687

ISSN

0028-0836

Publication Date

October 2015

Volume

526

Issue

7571

Start / End Page

68 / 74

Related Subject Headings

  • Sequence Analysis, DNA
  • Reference Standards
  • Rare Diseases
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Physical Chromosome Mapping
  • Internationality
  • INDEL Mutation
  • Humans
  • High-Throughput Nucleotide Sequencing
 

Citation

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1000 Genomes Project Consortium, ., Auton, A., Brooks, L. D., Durbin, R. M., Garrison, E. P., Kang, H. M., … Abecasis, G. R. (2015). A global reference for human genetic variation. Nature, 526(7571), 68–74. https://doi.org/10.1038/nature15393
1000 Genomes Project Consortium, A., Adam Auton, Lisa D. Brooks, Richard M. Durbin, Erik P. Garrison, Hyun Min Kang, Jan O. Korbel, et al. “A global reference for human genetic variation.Nature 526, no. 7571 (October 2015): 68–74. https://doi.org/10.1038/nature15393.
1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, et al. A global reference for human genetic variation. Nature. 2015 Oct;526(7571):68–74.
1000 Genomes Project Consortium, A., et al. “A global reference for human genetic variation.Nature, vol. 526, no. 7571, Oct. 2015, pp. 68–74. Epmc, doi:10.1038/nature15393.
1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. A global reference for human genetic variation. Nature. 2015 Oct;526(7571):68–74.
Journal cover image

Published In

Nature

DOI

EISSN

1476-4687

ISSN

0028-0836

Publication Date

October 2015

Volume

526

Issue

7571

Start / End Page

68 / 74

Related Subject Headings

  • Sequence Analysis, DNA
  • Reference Standards
  • Rare Diseases
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Physical Chromosome Mapping
  • Internationality
  • INDEL Mutation
  • Humans
  • High-Throughput Nucleotide Sequencing