Title: | A global reference for human genetic variation |
Authors: | Altshuler, DM Durbin, RM Abecasis, GR Bentley, DR Chakravarti, A Clark, AG Donnelly, P Eichler, EE Flicek, P Gabriel, SB Gibbs, RA Lienhard, M Mertes, F Sultan, M Timmermann, B Yaspo, M-L Mardis, ER Wilson, RK Fulton, L Fulton, R Sherry, ST Green, ED Ananiev, V Belaia, Z Beloslyudtsev, D Bouk, N Chen, C Church, D Cohen, R Cook, C Garner, J Hefferon, T Hurles, ME Kimelman, M Liu, C Lopez, J Meric, P O'Sullivan, C Ostapchuk, Y Phan, L Ponomarov, S Schneider, V Shekhtman, E Knoppers, BM Sirotkin, K Slotta, D Zhang, H McVean, GA Durbin, RM Balasubramaniam, S Burton, J Danecek, P Keane, TM Kolb-Kokocinski, A Korbel, JO McCarthy, S Stalker, J Quail, M Schmidt, JP Davies, CJ Gollub, J Webster, T Wong, B Zhan, Y Auton, A Lander, ES Campbell, CL Kong, Y Marcketta, A Gibbs, RA Yu, F Antunes, L Bainbridge, M Muzny, D Sabo, A Huang, Z Lee, C Wang, J Coin, LJM Fang, L Guo, X Jin, X Li, G Li, Q Li, Y Li, Z Lin, H Lehrach, H Liu, B Luo, R Shao, H Xie, Y Ye, C Yu, C Zhang, F Zheng, H Zhu, H Alkan, C Mardis, ER Dal, E Kahveci, F Marth, GT Garrison, EP Kural, D Lee, W-P Leong, WF Stromberg, M Ward, AN Wu, J Marth, GT Zhang, M Daly, MJ DePristo, MA Handsaker, RE Altshuler, DM Banks, E Bhatia, G del Angel, G Gabriel, SB Genovese, G McVean, GA Gupta, N Li, H Kashin, S Lander, ES McCarroll, SA Nemesh, JC Poplin, RE Yoon, SC Lihm, J Makarov, V Nickerson, DA Clark, AG Gottipati, S Keinan, A Rodriguez-Flores, JL Korbel, JO Rausch, T Fritz, MH Stuetz, AM Flicek, P Beal, K Schmidt, JP Clarke, L Datta, A Herrero, J McLaren, WM Ritchie, GRS Smith, RE Zerbino, D Zheng-Bradley, X Sabeti, PC Shlyakhter, I Sherry, ST Schaffner, SF Vitti, J Cooper, DN Ball, EV Stenson, PD Bentley, DR Barnes, B Bauer, M Cheetham, RK Cox, A Wang, J Eberle, M Humphray, S Kahn, S Murray, L Peden, J Shaw, R Kenny, EE Batzer, MA Konkel, MK Walker, JA Wilson, RK MacArthur, DG Lek, M Sudbrak, R Amstislavskiy, VS Herwig, R Mardis, ER Ding, L Koboldt, DC Larson, D Ye, K Gibbs, RA Gravel, S Swaroop, A Chew, E Lappalainen, T Erlich, Y Gymrek, M Willems, TF Simpson, JT Shriver, MD Rosenfeld, JA Boerwinkle, E Bustamante, CD Montgomery, SB De La Vega, FM Byrnes, JK Carroll, AW DeGorter, MK Lacroute, P Maples, BK Martin, AR Moreno-Estrada, A Doddapaneni, H Shringarpure, SS Zakharia, F Halperin, E Baran, Y Lee, C Cerveira, E Hwang, J Malhotra, A Plewczynski, D Radew, K Han, Y Romanovitch, M Zhang, C Hyland, FCL Craig, DW Christoforides, A Homer, N Izatt, T Kurdoglu, AA Sinari, SA Squire, K Korchina, V Sherry, ST Xiao, C Sebat, J Antaki, D Gujral, M Noor, A Ye, K Burchard, EG Hernandez, RD Gignoux, CR Kovar, C Haussler, D Katzman, SJ Kent, WJ Howie, B Ruiz-Linares, A Dermitzakis, ET Devine, SE Goncalo, RA Kang, HM Kidd, JM Lee, S Blackwell, T Caron, S Chen, W Emery, S Fritsche, L Fuchsberger, C Jun, G Li, B Lyons, R Scheller, C Muzny, D Sidore, C Song, S Sliwerska, E Taliun, D Tan, A Welch, R Wing, MK Zhan, X Awadalla, P Hodgkinson, A Reid, JG Li, Y Shi, X Quitadamo, A Lunter, G McVean, GA Marchini, JL Myers, S Churchhouse, C Delaneau, O Gupta-Hinch, A Zhu, Y Kretzschmar, W Iqbal, Z Mathieson, I Menelaou, A Rimmer, A Xifara, DK Oleksyk, TK Fu, Y Liu, X Xiong, M Wang, J Jorde, L Witherspoon, D Xing, J Eichler, EE Browning, BL Browning, SR Hormozdiari, F Sudmant, PH Khurana, E Durbin, RM Chang, Y Hurles, ME Tyler-Smith, C Albers, CA Ayub, Q Balasubramaniam, S Chen, Y Colonna, V Danecek, P Jostins, L Keane, TM Feng, Q McCarthy, S Walter, K Xue, Y Gerstein, MB Abyzov, A Balasubramanian, S Chen, J Clarke, D Fu, Y Harmanci, AO Fang, X Jin, M Lee, D Liu, J Mu, XJ Zhang, J Zhang, Y Li, Y Luo, R Zhu, H Alkan, C Guo, X Dal, E Kahveci, F Marth, GT Garrison, EP Kural, D Lee, W-P Ward, AN Wu, J Zhang, M McCarroll, SA Jian, M Handsaker, RE Altshuler, DM Banks, E Del Angel, G Genovese, G Hartl, C Li, H Kashin, S Nemesh, JC Shakir, K Jiang, H Yoon, SC Lihm, J Makarov, V Degenhardt, J Korbel, JO Fritz, MH Meiers, S Raeder, B Rausch, T Stuetz, AM Jin, X Flicek, P Casale, FP Clarke, L Smith, RE Stegle, O Zheng-Bradley, X Bentley, DR Barnes, B Cheetham, RK Eberle, M Lan, T Humphray, S Kahn, S Murray, L Shaw, R Lameijer, E-W Batzer, MA Konkel, MK Walker, JA Ding, L Hall, I Li, G Ye, K Lacroute, P Lee, C Cerveira, E Malhotra, A Hwang, J Plewczynski, D Radew, K Romanovitch, M Zhang, C Li, J Craig, DW Homer, N Church, D Xiao, C Sebat, J Antaki, D Bafna, V Michaelson, J Ye, K Devine, SE Li, Y Gardner, EJ Abecasis, GR Kidd, JM Mills, RE Dayama, G Emery, S Jun, G Shi, X Quitadamo, A Lunter, G Liu, S McVean, GA Chen, K Fan, X Chong, Z Chen, T Witherspoon, D Xing, J Eichler, EE Chaisson, MJ Hormozdiari, F Liu, X Huddleston, J Malig, M Nelson, BJ Sudmant, PH Parrish, NF Khurana, E Hurles, ME Blackburne, B Lindsay, SJ Ning, Z Lu, Y Walter, K Zhang, Y Gerstein, MB Abyzov, A Chen, J Clarke, D Lam, H Mu, XJ Sisu, C Zhang, J Ma, X Zhang, Y Gibbs, RA Yu, F Bainbridge, M Challis, D Evani, US Kovar, C Lu, J Muzny, D Nagaswamy, U Tang, M Reid, JG Sabo, A Yu, J Guo, X Li, W Li, Y Wu, R Marth, GT Garrison, EP Leong, WF Wang, B Ward, AN del Angel, G DePristo, MA Gabriel, SB Gupta, N Hartl, C Poplin, RE Clark, AG Rodriguez-Flores, JL Flicek, P Wang, G Clarke, L Smith, RE Zheng-Bradley, X MacArthur, DG Mardis, ER Fulton, R Koboldt, DC Gravel, S Bustamante, CD Craig, DW Wu, H Christoforides, A Homer, N Izatt, T Sherry, ST Xiao, C Dermitzakis, ET Abecasis, GR Kang, HM McVean, GA Gerstein, MB Wu, R Balasubramanian, S Habegger, L Yu, H Flicek, P Clarke, L Cunningham, F Dunham, I Zerbino, D Zheng-Bradley, X Lage, K Xu, X Jespersen, JB Horn, H Montgomery, SB DeGorter, MK Khurana, E Tyler-Smith, C Chen, Y Colonna, V Xue, Y Gerstein, MB Yin, Y Balasubramanian, S Fu, Y Kim, D Auton, A Marcketta, A Desalle, R Narechania, A Sayres, MAW Garrison, EP Handsaker, RE Zhang, D Kashin, S McCarroll, SA Rodriguez-Flores, JL Flicek, P Clarke, L Zheng-Bradley, X Erlich, Y Gymrek, M Willems, TF Bustamante, CD Zhang, W Mendez, FL Poznik, GD Underhill, PA Lee, C Cerveira, E Malhotra, A Romanovitch, M Zhang, C Abecasis, GR Coin, L Zhao, J Shao, H Mittelman, D Tyler-Smith, C Ayub, Q Banerjee, R Cerezo, M Chen, Y Fitzgerald, T Louzada, S Massaia, A Zhao, M McCarthy, S Ritchie, GR Xue, Y Yang, F Gibbs, RA Kovar, C Kalra, D Hale, W Muzny, D Reid, JG Zheng, X Wang, J Dan, X Guo, X Li, G Li, Y Ye, C Zheng, X Altshuler, DM Flicek, P Clarke, L Lander, ES Zheng-Bradley, X Bentley, DR Cox, A Humphray, S Kahn, S Sudbrak, R Albrecht, MW Lienhard, M Larson, D Craig, DW Altshuler, DM Izatt, T Kurdoglu, AA Sherry, ST Xiao, C Haussler, D Abecasis, GR McVean, GA Durbin, RM Balasubramaniam, S Keane, TM Gabriel, SB McCarthy, S Stalker, J Chakravarti, A Knoppers, BM Abecasis, GR Barnes, KC Beiswanger, C Burchard, EG Bustamante, CD Cai, H Gupta, N Cao, H Durbin, RM Gerry, NP Gharani, N Gibbs, RA Gignoux, CR Gravel, S Henn, B Jones, D Jorde, L Gharani, N Kaye, JS Keinan, A Kent, A Kerasidou, A Li, Y Mathias, R McVean, GA Moreno-Estrada, A Ossorio, PN Parker, M Toji, LH Resch, AM Rotimi, CN Royal, CD Sandoval, K Su, Y Sudbrak, R Tian, Z Tishkoff, S Toji, LH Tyler-Smith, C Gerry, NP Via, M Wang, Y Yang, H Yang, L Zhu, J Bodmer, W Bedoya, G Ruiz-Linares, A Cai, Z Gao, Y Resch, AM Chu, J Peltonen, L Garcia-Montero, A Orfao, A Dutil, J Martinez-Cruzado, JC Oleksyk, TK Barnes, KC Mathias, RA Hennis, A Flicek, P Watson, H McKenzie, C Qadri, F LaRocque, R Sabeti, PC Zhu, J Deng, X Sabeti, PC Asogun, D Folarin, O Barker, J Happi, C Omoniwa, O Stremlau, M Tariyal, R Jallow, M Joof, FS Corrah, T Rockett, K Kwiatkowski, D Kooner, J Clarke, L Tran, TH Dunstan, SJ Nguyen, TH Fonnie, R Garry, R Kanneh, L Moses, L Sabeti, PC Schieffelin, J Grant, DS Gil, L Gallo, C Poletti, G Saleheen, D Rasheed, A Brook, LD Felsenfeld, A McEwen, JE Vaydylevich, Y Green, ED Duncanson, A Hunt, SE Dunn, M Schloss, JA Wang, J Yang, H Auton, A Brooks, LD Durbin, RM Garrison, EP Kang, HM Korbel, JO Kelman, G Marchini, JL McCarthy, S McVean, GA Abecasis, GR 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 |
Keywords: | Science & Technology;Multidisciplinary Sciences;Science & Technology - Other Topics;GENOME-WIDE ASSOCIATION;COMPLEMENT FACTOR-H;MACULAR DEGENERATION;POPULATION HISTORY;BAYES FACTORS;MUTATION;DISEASE;VARIANT;SUSCEPTIBILITY;INDIVIDUALS |
Issue Date: | 2016 |
Publisher: | NATURE PUBLISHING GROUP |
Citation: | NATURE, 2015, 526 (7571), pp. 68 - + (20) |
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. |
URI: | http://bura.brunel.ac.uk/handle/2438/14924 |
DOI: | http://dx.doi.org/10.1038/nature15393 |
ISSN: | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000362095100036&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5 http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000362095100036&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5 0028-0836 1476-4687 |
Appears in Collections: | Dept of Health Sciences Research Papers
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