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

A global reference for human genetic variation.

Collaborators (843)

Auton A, Abecasis GR, Altshuler DM, Durbin RM, Abecasis GR, 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, Gibbs RA, Boerwinkle E, Doddapaneni H, Han Y, Korchina V, Kovar C, Lee S, Muzny D, Reid JG, Zhu Y, Wang J, 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, Ma X, Tang M, Wang B, Wang G, Wu H, Wu R, Xu X, Yin Y, Zhang D, Zhang W, Zhao J, Zhao M, Zheng X, Lander ES, Altshuler DM, Gabriel SB, Gupta N, Gharani N, Toji LH, Gerry NP, Resch AM, Flicek P, Barker J, Clarke L, Gil L, Hunt SE, Kelman G, Kulesha E, Leinonen R, McLaren WM, Radhakrishnan R, Roa A, Smirnov D, Smith RE, Streeter I, Thormann A, Toneva I, Vaughan B, Zheng-Bradley X, Bentley DR, Grocock R, Humphray S, James T, Kingsbury Z, Lehrach H, Sudbrak R, Albrecht MW, Amstislavskiy VS, Borodina TA, Lienhard M, Mertes F, Sultan M, Timmermann B, Yaspo ML, Mardis ER, Wilson RK, Fulton L, Fulton R, Sherry ST, Ananiev V, Belaia Z, Beloslyudtsev D, Bouk N, Chen C, Church D, Cohen R, Cook C, Garner J, Hefferon T, Kimelman M, Liu C, Lopez J, Meric P, O'Sullivan C, Ostapchuk Y, Phan L, Ponomarov S, Schneider V, Shekhtman E, Sirotkin K, Slotta D, Zhang H, McVean GA, Durbin RM, Balasubramaniam S, Burton J, Danecek P, Keane TM, Kolb-Kokocinski A, McCarthy S, Stalker J, Quail M, Durbin RM, Balasubramaniam S, Burton J, Danecek P, Keane TM, Kolb-Kokocinski A, McCarthy S, Stalker J, Quail M, Schmidt JP, Davies CJ, Gollub J, Webster T, Wong B, Zhan Y, Auton A, Campbell CL, Kong Y, Marcketta A, Gibbs RA, Yu F, Antunes L, Bainbridge M, Muzny D, Sabo A, Huang Z, Wang J, Coin LJ, Fang L, Guo X, Jin X, Li G, Li Q, Li Y, Li Z, Lin H, Liu B, Luo R, Shao H, Xie Y, Ye C, Yu C, Zhang F, Zheng H, Zhu H, Alkan C, Dal E, Kahveci F, Marth GT, Garrison EP, Kural D, Lee WP, Leong WF, Stromberg M, Ward AN, Wu J, Zhang M, Daly MJ, DePristo MA, Handsaker RE, Altshuler DM, Banks E, Bhatia G, Del Angel G, Gabriel SB, Genovese G, Gupta N, Li H, Kashin S, Lander ES, McCarroll SA, Nemesh JC, Poplin RE, Yoon SC, Lihm J, Makarov V, Clark AG, Gottipati S, Keinan A, Rodriguez-Flores JL, Korbel JO, Rausch T, Fritz MH, Stütz AM, Flicek P, Beal K, Clarke L, Datta A, Herrero J, McLaren WM, Ritchie GR, Smith RE, Zerbino D, Zheng-Bradley X, Sabeti PC, Shlyakhter I, Schaffner SF, Vitti J, Cooper DN, Ball EV, Stenson PD, Bentley DR, Barnes B, Bauer M, Cheetham RK, Cox A, Eberle M, Humphray S, Kahn S, Murray L, Peden J, Shaw R, Kenny EE, Batzer MA, Konkel MK, Walker JA, MacArthur DG, Lek M, Sudbrak R, Amstislavskiy VS, Herwig R, Mardis ER, Ding L, Koboldt DC, Larson D, Ye K, Gravel S, Swaroop A, Chew E, Lappalainen T, Erlich Y, Gymrek M, Willems TF, Simpson JT, Shriver MD, Rosenfeld JA, Bustamante CD, Montgomery SB, De La Vega FM, Byrnes JK, Carroll AW, DeGorter MK, Lacroute P, Maples BK, Martin AR, Moreno-Estrada A, Shringarpure SS, Zakharia F, Halperin E, Baran Y, Lee C, Cerveira E, Hwang J, Malhotra A, Plewczynski D, Radew K, Romanovitch M, Zhang C, Hyland FC, Craig DW, Christoforides A, Homer N, Izatt T, Kurdoglu AA, Sinari SA, Squire K, Sherry ST, Xiao C, Sebat J, Antaki D, Gujral M, Noor A, Ye K, Burchard EG, Hernandez RD, Gignoux CR, Haussler D, Katzman SJ, Kent WJ, Howie B, Ruiz-Linares A, Dermitzakis ET, Devine SE, Abecasis GR, Kang HM, Kidd JM, Blackwell T, Caron S, Chen W, Emery S, Fritsche L, Fuchsberger C, Jun G, Li B, Lyons R, Scheller C, Sidore C, Song S, Sliwerska E, Taliun D, Tan A, Welch R, Wing MK, Zhan X, Awadalla P, Hodgkinson A, Li Y, Shi X, Quitadamo A, Lunter G, McVean GA, Marchini JL, Myers S, Churchhouse C, Delaneau O, Gupta-Hinch A, Kretzschmar W, Iqbal Z, Mathieson I, Menelaou A, Rimmer A, Xifara DK, Oleksyk TK, Fu Y, Liu X, Xiong M, Jorde L, Witherspoon D, Xing J, Eichler EE, Browning BL, Browning SR, Hormozdiari F, Sudmant PH, Khurana E, Durbin RM, Hurles ME, Tyler-Smith C, Albers CA, Ayub Q, Balasubramaniam S, Chen Y, Colonna V, Danecek P, Jostins L, Keane TM, McCarthy S, Walter K, Xue Y, Gerstein MB, Abyzov A, Balasubramanian S, Chen J, Clarke D, Fu Y, Harmanci AO, Jin M, Lee D, Liu J, Mu XJ, Zhang J, Zhang Y, Gerstein MB, Abyzov A, Balasubramanian S, Chen J, Clarke D, Fu Y, Harmanci AO, Jin M, Lee D, Liu J, Mu XJ, Zhang J, Zhang Y, Li Y, Luo R, Zhu H, Alkan C, Dal E, Kahveci F, Marth GT, Garrison EP, Kural D, Lee WP, Ward AN, Wu J, Zhang M, McCarroll SA, Handsaker RE, Altshuler DM, Banks E, Del Angel G, Genovese G, Hartl C, Li H, Kashin S, Nemesh JC, Shakir K, Yoon SC, Lihm J, Makarov V, Degenhardt J, Korbel JO, Fritz MH, Meiers S, Raeder B, Rausch T, Stütz AM, Flicek P, Casale FP, Clarke L, Smith RE, Stegle O, Zheng-Bradley X, Bentley DR, Barnes B, Cheetham RK, Eberle M, Humphray S, Kahn S, Murray L, Shaw R, Lameijer EW, Batzer MA, Konkel MK, Walker JA, Ding L, Hall I, Ye K, Lacroute P, Lee C, Cerveira E, Malhotra A, Hwang J, Plewczynski D, Radew K, Romanovitch M, Zhang C, Craig DW, Homer N, Church D, Xiao C, Sebat J, Antaki D, Bafna V, Michaelson J, Ye K, Devine SE, Gardner EJ, Abecasis GR, Kidd JM, Mills RE, Dayama G, Emery S, Jun G, Shi X, Quitadamo A, Lunter G, McVean GA, Chen K, Fan X, Chong Z, Chen T, Witherspoon D, Xing J, Eichler EE, Chaisson MJ, Hormozdiari F, Huddleston J, Malig M, Nelson BJ, Sudmant PH, Parrish NF, Khurana E, Hurles ME, Blackburne B, Lindsay SJ, Ning Z, Walter K, Zhang Y, Gerstein MB, Abyzov A, Chen J, Clarke D, Lam H, Mu XJ, Sisu C, Zhang J, Zhang Y, Gerstein MB, Abyzov A, Chen J, Clarke D, Lam H, Mu XJ, Sisu C, Zhang J, Zhang Y, Gibbs RA, Yu F, Bainbridge M, Challis D, Evani US, Kovar C, Lu J, Muzny D, Nagaswamy U, Reid JG, Sabo A, Yu J, Guo X, Li W, Li Y, Wu R, Marth GT, Garrison EP, Leong WF, Ward AN, Del Angel G, DePristo MA, Gabriel SB, Gupta N, Hartl C, Poplin RE, Clark AG, Rodriguez-Flores JL, Flicek P, Clarke L, Smith RE, Zheng-Bradley X, MacArthur DG, Mardis ER, Fulton R, Koboldt DC, Gravel S, Bustamante CD, Craig DW, Christoforides A, Homer N, Izatt T, Sherry ST, Xiao C, Dermitzakis ET, Abecasis GR, Min Kang H, McVean GA, Gerstein MB, Balasubramanian S, Habegger L, Gerstein MB, Balasubramanian S, Habegger L, Yu H, Flicek P, Clarke L, Cunningham F, Dunham I, Zerbino D, Zheng-Bradley X, Lage K, Jespersen JB, Horn H, Montgomery SB, DeGorter MK, Khurana E, Tyler-Smith C, Chen Y, Colonna V, Xue Y, Gerstein MB, Balasubramanian S, Fu Y, Kim D, Gerstein MB, Balasubramanian S, Fu Y, Kim D, Auton A, Marcketta A, Desalle R, Narechania A, Sayres MA, Garrison EP, Handsaker RE, Kashin S, McCarroll SA, Rodriguez-Flores JL, Flicek P, Clarke L, Zheng-Bradley X, Erlich Y, Gymrek M, Willems TF, Bustamante CD, Mendez FL, Poznik GD, Underhill PA, Lee C, Cerveira E, Malhotra A, Romanovitch M, Zhang C, Abecasis GR, Coin L, Shao H, Mittelman D, Tyler-Smith C, Ayub Q, Banerjee R, Cerezo M, Chen Y, Fitzgerald TW, Louzada S, Massaia A, McCarthy S, Ritchie GR, Xue Y, Yang F, Tyler-Smith C, Ayub Q, Banerjee R, Cerezo M, Chen Y, Fitzgerald TW, Louzada S, Massaia A, McCarthy S, Ritchie GR, Xue Y, Yang F, Gibbs RA, Kovar C, Kalra D, Hale W, Muzny D, Reid JG, Wang J, Dan X, Guo X, Li G, Li Y, Ye C, Zheng X, Altshuler DM, Flicek P, Clarke L, Zheng-Bradley X, Bentley DR, Cox A, Humphray S, Kahn S, Sudbrak R, Albrecht MW, Lienhard M, Larson D, Craig DW, Izatt T, Kurdoglu AA, Sherry ST, Xiao C, Haussler D, Abecasis GR, McVean GA, Durbin RM, Balasubramaniam S, Keane TM, McCarthy S, Stalker J, Durbin RM, Balasubramaniam S, Keane TM, McCarthy S, Stalker J, Chakravarti A, Knoppers BM, Abecasis GR, Barnes KC, Beiswanger C, Burchard EG, Bustamante CD, Cai H, Cao H, Durbin RM, Gerry NP, Gharani N, Gibbs RA, Gignoux CR, Gravel S, Henn B, Jones D, Jorde L, Kaye JS, Keinan A, Kent A, Kerasidou A, Li Y, Mathias R, McVean GA, Moreno-Estrada A, Ossorio PN, Parker M, Resch AM, Rotimi CN, Royal CD, Sandoval K, Su Y, Sudbrak R, Tian Z, Tishkoff S, Toji LH, Tyler-Smith C, Via M, Wang Y, Yang H, Yang L, Zhu J, Bodmer W, Bedoya G, Ruiz-Linares A, Cai Z, Gao Y, Chu J, Peltonen L, Garcia-Montero A, Orfao A, Dutil J, Martinez-Cruzado JC, Oleksyk TK, Barnes KC, Mathias RA, Hennis A, Watson H, McKenzie C, Qadri F, LaRocque R, Sabeti PC, Zhu J, Deng X, Sabeti PC, Asogun D, Folarin O, Happi C, Omoniwa O, Stremlau M, Tariyal R, Jallow M, Joof FS, Corrah T, Rockett K, Kwiatkowski D, Kooner J, Hiên TT, Dunstan SJ, Hang NT, Fonnie R, Garry R, Kanneh L, Moses L, Sabeti PC, Schieffelin J, Grant DS, Gallo C, Poletti G, Saleheen D, Rasheed A, Saleheen D, Rasheed A, Brooks LD, Felsenfeld AL, McEwen JE, Vaydylevich Y, Green ED, Duncanson A, Dunn M, Schloss JA, Wang J, Yang H, Auton A, Brooks LD, Durbin RM, Garrison EP, Min Kang H, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR, Auton A, Brooks LD, Durbin RM, Garrison EP, Min Kang H, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR.

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.

PMID:
26432245
PMCID:
PMC4750478
DOI:
10.1038/nature15393
[Indexed for MEDLINE]
Free PMC Article

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