A global reference for human genetic variation

Adam Auton; Gonçalo R. Abecasis; David M. Altshuler; Richard M. Durbin; David R. Bentley; Aravinda Chakravarti; Andrew G. Clark; Peter Donnelly; Evan E. Eichler; Paul Flicek; Stacey B. Gabriel; Richard A. Gibbs; Eric D. Green; Matthew E. Hurles; Bartha M. Knoppers; Jan O. Korbel; Eric S. Lander; Charles Lee; Hans Lehrach; Elaine R. Mardis; Gabor T. Marth; Gil A. McVean; Deborah A. Nickerson; Jeanette P. Schmidt; Stephen T. Sherry; Jun Wang; Richard K. Wilson; Eric Boerwinkle; Harsha Doddapaneni; Yi Han; Viktoriya Korchina; Christie Kovar; Sandra Lee; Donna Muzny; Jeffrey G. Reid; Yiming Zhu; Yuqi Chang; Qiang Feng; Xiaodong Fang; Xiaosen Guo; Min Jian; Hui Jiang; Xin Jin; Tianming Lan; Guoqing Li; Jingxiang Li; Yingrui Li; Shengmao Liu; Xiao Liu; Yao Lu

doi:10.1038/nature15393

A global reference for human genetic variation

Adam Auton, Gonçalo R. Abecasis, David M. Altshuler, Richard M. Durbin, David R. Bentley, Aravinda Chakravarti, Andrew G. Clark, Peter Donnelly, Evan E. Eichler, Paul Flicek, Stacey B. Gabriel, Richard A. Gibbs, Eric D. Green, Matthew E. Hurles, Bartha M. Knoppers, Jan O. Korbel, Eric S. Lander, Charles Lee, Hans Lehrach, Elaine R. MardisGabor T. Marth, Gil A. McVean, Deborah A. Nickerson, Jeanette P. Schmidt, Stephen T. Sherry, Jun Wang, Richard K. Wilson, Eric Boerwinkle, Harsha Doddapaneni, Yi Han, Viktoriya Korchina, Christie Kovar, Sandra Lee, Donna Muzny, Jeffrey G. Reid, Yiming Zhu, Yuqi Chang, Qiang Feng, Xiaodong Fang, Xiaosen Guo, Min Jian, Hui Jiang, Xin Jin, Tianming Lan, Guoqing Li, Jingxiang Li, Yingrui Li, Shengmao Liu, Xiao Liu, Yao Lu

Genetics, Cell Biology and Development (CBS)

Research output: Contribution to journal › Review article › peer-review

10190 Scopus citations

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.

Original language	English (US)
Pages (from-to)	68-74
Number of pages	7
Journal	Nature
Volume	526
Issue number	7571
DOIs	https://doi.org/10.1038/nature15393
State	Published - Sep 30 2015

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Auton, A., Abecasis, G. R., Altshuler, D. M., Durbin, R. M., Bentley, D. R., Chakravarti, A., Clark, A. G., Donnelly, P., Eichler, E. E., Flicek, P., Gabriel, S. B., Gibbs, R. A., Green, E. D., Hurles, M. E., Knoppers, B. M., Korbel, J. O., Lander, E. S., Lee, C., Lehrach, H., ... Lu, Y. (2015). A global reference for human genetic variation. Nature, 526(7571), 68-74. https://doi.org/10.1038/nature15393

Auton, A, Abecasis, GR, Altshuler, DM, Durbin, RM, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Boerwinkle, E, Doddapaneni, H, Han, Y, Korchina, V, Kovar, C, Lee, S, Muzny, D, Reid, JG, Zhu, Y, Chang, Y, Feng, Q, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Lan, T, Li, G, Li, J, Li, Y, Liu, S, Liu, X & Lu, Y 2015, 'A global reference for human genetic variation', Nature, vol. 526, no. 7571, pp. 68-74. https://doi.org/10.1038/nature15393

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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.",

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AU - Flicek, Paul

AU - Gabriel, Stacey B.

AU - Gibbs, Richard A.

AU - Green, Eric D.

AU - Hurles, Matthew E.

AU - Knoppers, Bartha M.

AU - Korbel, Jan O.

AU - Lander, Eric S.

AU - Lee, Charles

AU - Lehrach, Hans

AU - Mardis, Elaine R.

AU - Marth, Gabor T.

AU - McVean, Gil A.

AU - Nickerson, Deborah A.

AU - Schmidt, Jeanette P.

AU - Sherry, Stephen T.

AU - Wang, Jun

AU - Wilson, Richard K.

AU - Boerwinkle, Eric

AU - Doddapaneni, Harsha

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AU - Muzny, Donna

AU - Reid, Jeffrey G.

AU - Zhu, Yiming

AU - Chang, Yuqi

AU - Feng, Qiang

AU - Fang, Xiaodong

AU - Guo, Xiaosen

AU - Jian, Min

AU - Jiang, Hui

AU - Jin, Xin

AU - Lan, Tianming

AU - Li, Guoqing

AU - Li, Jingxiang

AU - Li, Yingrui

AU - Liu, Shengmao

AU - Liu, Xiao

AU - Lu, Yao

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A global reference for human genetic variation

Abstract

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