Title: | An integrated map of genetic variation from 1,092 human genomes |
Authors: | Durbin, RM Abecasis, GR Bentley, DR Chakravarti, A Clark, AG Donnelly, P Eichler, EE Flicek, P Gabriel, SB Gibbs, RA Schmidt, JP Davies, CJ Gollub, J Webster, T Wong, B Zhan, Y Auton, A Gibbs, RA Yu, F Bainbridge, M Green, ED Challis, D Evani, US Lu, J Muzny, D Nagaswamy, U Reid, J Sabo, A Wang, Y Yu, J Wang, J Hurles, ME Coin, LJM Fang, L Guo, X Jin, X Li, G Li, Q Li, Y Li, Z Lin, H Liu, B Knoppers, BM Luo, R Qin, N Shao, H Wang, B Xie, Y Ye, C Yu, C Zhang, F Zheng, H Zhu, H Korbel, JO Marth, GT Garrison, EP Kural, D Lee, W-P Leong, WF Ward, AN Wu, J Zhang, M Lee, C Griffin, L Lander, ES Hsieh, C-H Mills, RE Shi, X von Grotthuss, M Zhang, C Daly, MJ DePristo, MA Altshuler, DM Banks, E Bhatia, G Lee, C Carneiro, MO del Angel, G Gabriel, SB Genovese, G Gupta, N Handsaker, RE Hartl, C Lander, ES McCarroll, SA Nemesh, JC Lehrach, H Poplin, RE Schaffner, SF Shakir, K Yoon, SC Lihm, J Makarov, V Jin, H Kim, W Kim, KC Korbel, JO Mardis, ER Rausch, T Flicek, P Beal, K Clarke, L Cunningham, F Herrero, J McLaren, WM Ritchie, GRS Smith, RE Zheng-Bradley, X Marth, GT Clark, AG Gottipati, S Keinan, A Rodriguez-Flores, JL Sabeti, PC Grossman, SR Tabrizi, S Tariyal, R Cooper, DN Ball, EV McVean, GA Stenson, PD Bentley, DR Barnes, B Bauer, M Cheetham, RK Cox, T Eberle, M Humphray, S Kahn, S Murray, L Nickerson, DA Peden, J Shaw, R Ye, K Batzer, MA Konkel, MK Walker, JA MacArthur, DG Lek, M Sudbrak, R Amstislavskiy, VS Schmidt, JP Herwig, R Shriver, MD Bustamante, CD Byrnes, JK De la Vega, FM Gravel, S Kenny, EE Kidd, JM Lacroute, P Maples, BK Sherry, ST Moreno-Estrada, A Zakharia, F Halperin, E Baran, Y Craig, DW Christoforides, A Homer, N Izatt, T Kurdoglu, AA Sinari, SA Wang, J Squire, K Sherry, ST Xiao, C Sebat, J Bafna, V Ye, K Burchard, EG Hernandez, RD Gignoux, CR Haussler, D Wilson, RK Katzman, SJ Kent, WJ Howie, B Ruiz-Linares, A Dermitzakis, ET Lappalainen, T Devine, SE Liu, X Maroo, A Tallon, LJ Gibbs, RA Rosenfeld, JA Michelson, LP Abecasis, GR Kang, HM Anderson, P Angius, A Bigham, A Blackwell, T Busonero, F Cucca, F Dinh, H Fuchsberger, C Jones, C Jun, G Li, Y Lyons, R Maschio, A Porcu, E Reinier, F Sanna, S Schlessinger, D Kovar, C Sidore, C Tan, A Trost, MK Awadalla, P Hodgkinson, A Lunter, G McVean, GA Marchini, JL Myers, S Churchhouse, C Lee, S Delaneau, O Gupta-Hinch, A Iqbal, Z Mathieson, I Rimmer, A Xifara, DK Oleksyk, TK Fu, Y Liu, X Xiong, M Lewis, L Jorde, L Witherspoon, D Xing, J Eichler, EE Browning, BL Alkan, C Hajirasouliha, I Hormozdiari, F Ko, A Sudmant, PH Muzny, D Mardis, ER Chen, K Chinwalla, A Ding, L Dooling, D Koboldt, DC McLellan, MD Wallis, JW Wendl, MC Zhang, Q Reid, J Durbin, RM Hurles, ME Tyler-Smith, C Albers, CA Ayub, Q Balasubramaniam, S Chen, Y Coffey, AJ Colonna, V Danecek, P Wang, M Huang, N Jostins, L Keane, TM Li, H McCarthy, S Scally, A Stalker, J Walter, K Xue, Y Zhang, Y Wang, J Gerstein, MB Abyzov, A Balasubramanian, S Chen, J Clarke, D Fu, Y Habegger, L Harmanci, AO Jin, M Khurana, E Fang, X Mu, XJ Sisu, C Li, Y Luo, R Zhu, H Lee, C Griffin, L Hsieh, C-H Mills, RE Shi, X Guo, X von Grotthuss, M Zhang, C Marth, GT Garrison, EP Kural, D Lee, W-P Ward, AN Wu, J Zhang, M McCarroll, SA Jian, M Altshuler, DM Banks, E del Angel, G Genovese, G Handsaker, RE Hartl, C Nemesh, JC Shakir, K Yoon, SC Lihm, J Jiang, H Makarov, V Degenhardt, J Flicek, P Clarke, L Smith, RE Zheng-Bradley, X Korbel, JO Rausch, T Stuetz, AM Bentley, DR Jin, X Barnes, B Cheetham, RK Eberle, M Humphray, S Kahn, S Murray, L Shaw, R Ye, K Batzer, MA Konkel, MK Li, G Walker, JA Lacroute, P Craig, DW Homer, N Church, D Xiao, C Sebat, J Bafna, V Michaelson, JJ Ye, K Li, J Devine, SE Liu, X Maroo, A Tallon, LJ Lunter, G McVean, GA Iqbal, Z Witherspoon, D Xing, J Eichler, EE Li, Y Alkan, C Hajirasouliha, I Hormozdiari, F Ko, A Sudmant, PH Chen, K Chinwalla, A Ding, L McLellan, MD Wallis, JW Li, Z Hurles, ME Ben, B Li, H Lindsay, SJ Ning, Z Scally, A Walter, K Zhang, Y Gerstein, MB Abyzov, A Liu, X Chen, J Clarke, D Khurana, E Mu, XJ Sisu, C Gibbs, RA Yu, F Bainbridge, M Challis, D Evani, US Lu, Y Kovar, C Lewis, L Lu, J Muzny, D Nagaswamy, U Reid, J Sabo, A Yu, J Guo, X Li, Y Ma, X Wu, R Marth, GT Garrison, EP Leong, WF Ward, AN del Angel, G DePristo, MA Gabriel, SB Gupta, N Hartl, C Su, Z Poplin, RE Clark, AG Rodriguez-Flores, JL Flicek, P Clarke, L Smith, RE Zheng-Bradley, X MacArthur, DG Bustamante, CD Gravel, S Tai, S Craig, DW Christoforides, A Homer, N Izatt, T Sherry, ST Xiao, C Dermitzakis, ET Abecasis, GR Kang, HM McVean, GA Tang, M Mardis, ER Dooling, D Fulton, L Fulton, R Koboldt, DC Durbin, RM Balasubramaniam, S Keane, TM McCarthy, S Stalker, J Wang, B Gerstein, MB Balasubramanian, S Habegger, L Garrison, EP Gibbs, RA Bainbridge, M Muzny, D Yu, F Yu, J del Angel, G Wang, G Handsaker, RE Makarov, V Rodriguez-Flores, JL Jin, H Kim, W Kim, KC Flicek, P Beal, K Clarke, L Cunningham, F Wu, H Herrero, J McLaren, WM Ritchie, GRS Zheng-Bradley, X Tabrizi, S MacArthur, DG Lek, M Bustamante, CD De la Vega, FM Craig, DW Wu, R Kurdoglu, AA Lappalainen, T Rosenfeld, JA Michelson, LP Awadalla, P Hodgkinson, A McVean, GA Chen, K Tyler-Smith, C Chen, Y Yin, Y Colonna, V Frankish, A Harrow, J Xue, Y Gerstein, MB Abyzov, A Balasubramanian, S Chen, J Clarke, D Fu, Y Zhang, W Harmanci, AO Jin, M Khurana, E Mu, XJ Sisu, C Gibbs, RA Fowler, G Hale, W Kalra, D Kovar, C Zhao, J Muzny, D Reid, J Wang, J Guo, X Li, G Li, Y Zheng, X Altshuler, DM Flicek, P Clarke, L Zhao, M Barker, J Kelman, G Kulesha, E Leinonen, R McLaren, WM Radhakrishnan, R Roa, A Smirnov, D Smith, RE Streeter, I Zheng, X Toneva, I Vaughan, B Zheng-Bradley, X Bentley, DR Cox, T Humphray, S Kahn, S Sudbrak, R Albrecht, MW Lienhard, M Zhou, Y Craig, DW Izatt, T Kurdoglu, AA Sherry, ST Ananiev, V Belaia, Z Beloslyudtsev, D Bouk, N Chen, C Church, D Lander, ES Cohen, R Cook, C Garner, J Hefferon, T Kimelman, M Liu, C Lopez, J Meric, P O'Sullivan, C Ostapchuk, Y Altshuler, DM Phan, L Ponomarov, S Schneider, V Shekhtman, E Sirotkin, K Slotta, D Xiao, C Zhang, H Haussler, D Abecasis, GR Gabriel, SB McVean, GA Alkan, C Ko, A Dooling, D Durbin, RM Balasubramaniam, S Keane, TM McCarthy, S Stalker, J Chakravarti, A Gupta, N Knoppers, BM Abecasis, GR Barnes, KC Beiswanger, C Burchard, EG Bustamante, CD Cai, H Cao, H Durbin, RM Gharani, N Flicek, P Gibbs, RA Gignoux, CR Gravel, S Henn, B Jones, D Jorde, L Kaye, JS Keinan, A Kent, A Kerasidou, A Clarke, L Li, Y Mathias, R McVean, GA Moreno-Estrada, A Ossorio, PN Parker, M Reich, D Rotimi, CN Royal, CD Sandoval, K Leinonen, R Su, Y Sudbrak, R Tian, Z Timmermann, B Tishkoff, S Toji, LH Tyler-Smith, C Via, M Wang, Y Yang, H Smith, RE Yang, L Zhu, J Bodmer, W Bedoya, G Ruiz-Linares, A Ming, CZ Yang, G You, CJ Peltonen, L Garcia-Montero, A Zheng-Bradley, X Orfao, A Dutil, J Martinez-Cruzado, JC Oleksyk, TK Brooks, LD Felsenfeld, AL McEwen, JE Clemm, NC Duncanson, A Dunn, M Bentley, DR Green, ED Guyer, MS Peterson, JL Abecasis, GR Auton, A Brooks, LD DePristo, MA Durbin, RM Handsaker, RE Kang, HM Grocock, R Marth, GT McVean, GA 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, M-L Sherry, ST McVean, GA Mardis, ER Wilson, RK Fulton, L Fulton, R Weinstock, GM Durbin, RM Balasubramaniam, S Burton, J Danecek, P Keane, TM Kolb-Kokocinski, A McCarthy, S Stalker, J Quail, M |
Keywords: | Science & Technology;Multidisciplinary Sciences;Science & Technology - Other Topics;MULTIDISCIPLINARY SCIENCES;COPY NUMBER VARIATION;POPULATION-SCALE;WIDE ASSOCIATION;CODING VARIATION;RARE;VARIANTS;DISEASE;LOCI;DISCOVERY;HISTORY |
Issue Date: | 2012 |
Publisher: | NATURE PUBLISHING GROUP |
Citation: | NATURE, 2012, 491 (7422), pp. 56 - 65 (10) |
Abstract: | Through characterising the geographic and functional spectrum of human genetic variation, the
1000 Genomes Project aims to build a resource to help understand the genetic contribution to
disease. We describe the genomes of 1,092 individuals from 14 populations, constructed using a
combination of low-coverage whole-genome and exome sequencing. By developing
methodologies to integrate information across multiple algorithms and diverse data sources we
provide a validated haplotype map of 38 million SNPs, 1.4 million indels and over 14 thousand
larger deletions. We show that individuals from different populations carry different profiles of
rare and common variants and that low-frequency variants show substantial geographic
differentiation, which is further increased by the action of purifying selection. We show that
evolutionary conservation and coding consequence are key determinants of the strength of
purifying selection, that rare-variant load varies substantially across biological pathways and that
each individual harbours hundreds of rare non-coding variants at conserved sites, such as
transcription-factor-motif disrupting changes. This resource, which captures up to 98% of
accessible SNPs at a frequency of 1% in populations of medical genetics focus, enables analysis of
common and low-frequency variants in individuals from diverse, including admixed, populations. |
URI: | http://bura.brunel.ac.uk/handle/2438/14917 |
DOI: | http://dx.doi.org/10.1038/nature11632 |
ISSN: | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000310434500030&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5 http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000310434500030&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5 0028-0836 |
Appears in Collections: | Dept of Health Sciences Research Papers
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