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DC Field | Value | Language |
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dc.contributor.author | Durbin, RM | - |
dc.contributor.author | Abecasis, GR | - |
dc.contributor.author | Bentley, DR | - |
dc.contributor.author | Chakravarti, A | - |
dc.contributor.author | Clark, AG | - |
dc.contributor.author | Donnelly, P | - |
dc.contributor.author | Eichler, EE | - |
dc.contributor.author | Flicek, P | - |
dc.contributor.author | Gabriel, SB | - |
dc.contributor.author | Gibbs, RA | - |
dc.contributor.author | Schmidt, JP | - |
dc.contributor.author | Davies, CJ | - |
dc.contributor.author | Gollub, J | - |
dc.contributor.author | Webster, T | - |
dc.contributor.author | Wong, B | - |
dc.contributor.author | Zhan, Y | - |
dc.contributor.author | Auton, A | - |
dc.contributor.author | Gibbs, RA | - |
dc.contributor.author | Yu, F | - |
dc.contributor.author | Bainbridge, M | - |
dc.contributor.author | Green, ED | - |
dc.contributor.author | Challis, D | - |
dc.contributor.author | Evani, US | - |
dc.contributor.author | Lu, J | - |
dc.contributor.author | Muzny, D | - |
dc.contributor.author | Nagaswamy, U | - |
dc.contributor.author | Reid, J | - |
dc.contributor.author | Sabo, A | - |
dc.contributor.author | Wang, Y | - |
dc.contributor.author | Yu, J | - |
dc.contributor.author | Wang, J | - |
dc.contributor.author | Hurles, ME | - |
dc.contributor.author | Coin, LJM | - |
dc.contributor.author | Fang, L | - |
dc.contributor.author | Guo, X | - |
dc.contributor.author | Jin, X | - |
dc.contributor.author | Li, G | - |
dc.contributor.author | Li, Q | - |
dc.contributor.author | Li, Y | - |
dc.contributor.author | Li, Z | - |
dc.contributor.author | Lin, H | - |
dc.contributor.author | Liu, B | - |
dc.contributor.author | Knoppers, BM | - |
dc.contributor.author | Luo, R | - |
dc.contributor.author | Qin, N | - |
dc.contributor.author | Shao, H | - |
dc.contributor.author | Wang, B | - |
dc.contributor.author | Xie, Y | - |
dc.contributor.author | Ye, C | - |
dc.contributor.author | Yu, C | - |
dc.contributor.author | Zhang, F | - |
dc.contributor.author | Zheng, H | - |
dc.contributor.author | Zhu, H | - |
dc.contributor.author | Korbel, JO | - |
dc.contributor.author | Marth, GT | - |
dc.contributor.author | Garrison, EP | - |
dc.contributor.author | Kural, D | - |
dc.contributor.author | Lee, W-P | - |
dc.contributor.author | Leong, WF | - |
dc.contributor.author | Ward, AN | - |
dc.contributor.author | Wu, J | - |
dc.contributor.author | Zhang, M | - |
dc.contributor.author | Lee, C | - |
dc.contributor.author | Griffin, L | - |
dc.contributor.author | Lander, ES | - |
dc.contributor.author | Hsieh, C-H | - |
dc.contributor.author | Mills, RE | - |
dc.contributor.author | Shi, X | - |
dc.contributor.author | von Grotthuss, M | - |
dc.contributor.author | Zhang, C | - |
dc.contributor.author | Daly, MJ | - |
dc.contributor.author | DePristo, MA | - |
dc.contributor.author | Altshuler, DM | - |
dc.contributor.author | Banks, E | - |
dc.contributor.author | Bhatia, G | - |
dc.contributor.author | Lee, C | - |
dc.contributor.author | Carneiro, MO | - |
dc.contributor.author | del Angel, G | - |
dc.contributor.author | Gabriel, SB | - |
dc.contributor.author | Genovese, G | - |
dc.contributor.author | Gupta, N | - |
dc.contributor.author | Handsaker, RE | - |
dc.contributor.author | Hartl, C | - |
dc.contributor.author | Lander, ES | - |
dc.contributor.author | McCarroll, SA | - |
dc.contributor.author | Nemesh, JC | - |
dc.contributor.author | Lehrach, H | - |
dc.contributor.author | Poplin, RE | - |
dc.contributor.author | Schaffner, SF | - |
dc.contributor.author | Shakir, K | - |
dc.contributor.author | Yoon, SC | - |
dc.contributor.author | Lihm, J | - |
dc.contributor.author | Makarov, V | - |
dc.contributor.author | Jin, H | - |
dc.contributor.author | Kim, W | - |
dc.contributor.author | Kim, KC | - |
dc.contributor.author | Korbel, JO | - |
dc.contributor.author | Mardis, ER | - |
dc.contributor.author | Rausch, T | - |
dc.contributor.author | Flicek, P | - |
dc.contributor.author | Beal, K | - |
dc.contributor.author | Clarke, L | - |
dc.contributor.author | Cunningham, F | - |
dc.contributor.author | Herrero, J | - |
dc.contributor.author | McLaren, WM | - |
dc.contributor.author | Ritchie, GRS | - |
dc.contributor.author | Smith, RE | - |
dc.contributor.author | Zheng-Bradley, X | - |
dc.contributor.author | Marth, GT | - |
dc.contributor.author | Clark, AG | - |
dc.contributor.author | Gottipati, S | - |
dc.contributor.author | Keinan, A | - |
dc.contributor.author | Rodriguez-Flores, JL | - |
dc.contributor.author | Sabeti, PC | - |
dc.contributor.author | Grossman, SR | - |
dc.contributor.author | Tabrizi, S | - |
dc.contributor.author | Tariyal, R | - |
dc.contributor.author | Cooper, DN | - |
dc.contributor.author | Ball, EV | - |
dc.contributor.author | McVean, GA | - |
dc.contributor.author | Stenson, PD | - |
dc.contributor.author | Bentley, DR | - |
dc.contributor.author | Barnes, B | - |
dc.contributor.author | Bauer, M | - |
dc.contributor.author | Cheetham, RK | - |
dc.contributor.author | Cox, T | - |
dc.contributor.author | Eberle, M | - |
dc.contributor.author | Humphray, S | - |
dc.contributor.author | Kahn, S | - |
dc.contributor.author | Murray, L | - |
dc.contributor.author | Nickerson, DA | - |
dc.contributor.author | Peden, J | - |
dc.contributor.author | Shaw, R | - |
dc.contributor.author | Ye, K | - |
dc.contributor.author | Batzer, MA | - |
dc.contributor.author | Konkel, MK | - |
dc.contributor.author | Walker, JA | - |
dc.contributor.author | MacArthur, DG | - |
dc.contributor.author | Lek, M | - |
dc.contributor.author | Sudbrak, R | - |
dc.contributor.author | Amstislavskiy, VS | - |
dc.contributor.author | Schmidt, JP | - |
dc.contributor.author | Herwig, R | - |
dc.contributor.author | Shriver, MD | - |
dc.contributor.author | Bustamante, CD | - |
dc.contributor.author | Byrnes, JK | - |
dc.contributor.author | De la Vega, FM | - |
dc.contributor.author | Gravel, S | - |
dc.contributor.author | Kenny, EE | - |
dc.contributor.author | Kidd, JM | - |
dc.contributor.author | Lacroute, P | - |
dc.contributor.author | Maples, BK | - |
dc.contributor.author | Sherry, ST | - |
dc.contributor.author | Moreno-Estrada, A | - |
dc.contributor.author | Zakharia, F | - |
dc.contributor.author | Halperin, E | - |
dc.contributor.author | Baran, Y | - |
dc.contributor.author | Craig, DW | - |
dc.contributor.author | Christoforides, A | - |
dc.contributor.author | Homer, N | - |
dc.contributor.author | Izatt, T | - |
dc.contributor.author | Kurdoglu, AA | - |
dc.contributor.author | Sinari, SA | - |
dc.contributor.author | Wang, J | - |
dc.contributor.author | Squire, K | - |
dc.contributor.author | Sherry, ST | - |
dc.contributor.author | Xiao, C | - |
dc.contributor.author | Sebat, J | - |
dc.contributor.author | Bafna, V | - |
dc.contributor.author | Ye, K | - |
dc.contributor.author | Burchard, EG | - |
dc.contributor.author | Hernandez, RD | - |
dc.contributor.author | Gignoux, CR | - |
dc.contributor.author | Haussler, D | - |
dc.contributor.author | Wilson, RK | - |
dc.contributor.author | Katzman, SJ | - |
dc.contributor.author | Kent, WJ | - |
dc.contributor.author | Howie, B | - |
dc.contributor.author | Ruiz-Linares, A | - |
dc.contributor.author | Dermitzakis, ET | - |
dc.contributor.author | Lappalainen, T | - |
dc.contributor.author | Devine, SE | - |
dc.contributor.author | Liu, X | - |
dc.contributor.author | Maroo, A | - |
dc.contributor.author | Tallon, LJ | - |
dc.contributor.author | Gibbs, RA | - |
dc.contributor.author | Rosenfeld, JA | - |
dc.contributor.author | Michelson, LP | - |
dc.contributor.author | Abecasis, GR | - |
dc.contributor.author | Kang, HM | - |
dc.contributor.author | Anderson, P | - |
dc.contributor.author | Angius, A | - |
dc.contributor.author | Bigham, A | - |
dc.contributor.author | Blackwell, T | - |
dc.contributor.author | Busonero, F | - |
dc.contributor.author | Cucca, F | - |
dc.contributor.author | Dinh, H | - |
dc.contributor.author | Fuchsberger, C | - |
dc.contributor.author | Jones, C | - |
dc.contributor.author | Jun, G | - |
dc.contributor.author | Li, Y | - |
dc.contributor.author | Lyons, R | - |
dc.contributor.author | Maschio, A | - |
dc.contributor.author | Porcu, E | - |
dc.contributor.author | Reinier, F | - |
dc.contributor.author | Sanna, S | - |
dc.contributor.author | Schlessinger, D | - |
dc.contributor.author | Kovar, C | - |
dc.contributor.author | Sidore, C | - |
dc.contributor.author | Tan, A | - |
dc.contributor.author | Trost, MK | - |
dc.contributor.author | Awadalla, P | - |
dc.contributor.author | Hodgkinson, A | - |
dc.contributor.author | Lunter, G | - |
dc.contributor.author | McVean, GA | - |
dc.contributor.author | Marchini, JL | - |
dc.contributor.author | Myers, S | - |
dc.contributor.author | Churchhouse, C | - |
dc.contributor.author | Lee, S | - |
dc.contributor.author | Delaneau, O | - |
dc.contributor.author | Gupta-Hinch, A | - |
dc.contributor.author | Iqbal, Z | - |
dc.contributor.author | Mathieson, I | - |
dc.contributor.author | Rimmer, A | - |
dc.contributor.author | Xifara, DK | - |
dc.contributor.author | Oleksyk, TK | - |
dc.contributor.author | Fu, Y | - |
dc.contributor.author | Liu, X | - |
dc.contributor.author | Xiong, M | - |
dc.contributor.author | Lewis, L | - |
dc.contributor.author | Jorde, L | - |
dc.contributor.author | Witherspoon, D | - |
dc.contributor.author | Xing, J | - |
dc.contributor.author | Eichler, EE | - |
dc.contributor.author | Browning, BL | - |
dc.contributor.author | Alkan, C | - |
dc.contributor.author | Hajirasouliha, I | - |
dc.contributor.author | Hormozdiari, F | - |
dc.contributor.author | Ko, A | - |
dc.contributor.author | Sudmant, PH | - |
dc.contributor.author | Muzny, D | - |
dc.contributor.author | Mardis, ER | - |
dc.contributor.author | Chen, K | - |
dc.contributor.author | Chinwalla, A | - |
dc.contributor.author | Ding, L | - |
dc.contributor.author | Dooling, D | - |
dc.contributor.author | Koboldt, DC | - |
dc.contributor.author | McLellan, MD | - |
dc.contributor.author | Wallis, JW | - |
dc.contributor.author | Wendl, MC | - |
dc.contributor.author | Zhang, Q | - |
dc.contributor.author | Reid, J | - |
dc.contributor.author | Durbin, RM | - |
dc.contributor.author | Hurles, ME | - |
dc.contributor.author | Tyler-Smith, C | - |
dc.contributor.author | Albers, CA | - |
dc.contributor.author | Ayub, Q | - |
dc.contributor.author | Balasubramaniam, S | - |
dc.contributor.author | Chen, Y | - |
dc.contributor.author | Coffey, AJ | - |
dc.contributor.author | Colonna, V | - |
dc.contributor.author | Danecek, P | - |
dc.contributor.author | Wang, M | - |
dc.contributor.author | Huang, N | - |
dc.contributor.author | Jostins, L | - |
dc.contributor.author | Keane, TM | - |
dc.contributor.author | Li, H | - |
dc.contributor.author | McCarthy, S | - |
dc.contributor.author | Scally, A | - |
dc.contributor.author | Stalker, J | - |
dc.contributor.author | Walter, K | - |
dc.contributor.author | Xue, Y | - |
dc.contributor.author | Zhang, Y | - |
dc.contributor.author | Wang, J | - |
dc.contributor.author | Gerstein, MB | - |
dc.contributor.author | Abyzov, A | - |
dc.contributor.author | Balasubramanian, S | - |
dc.contributor.author | Chen, J | - |
dc.contributor.author | Clarke, D | - |
dc.contributor.author | Fu, Y | - |
dc.contributor.author | Habegger, L | - |
dc.contributor.author | Harmanci, AO | - |
dc.contributor.author | Jin, M | - |
dc.contributor.author | Khurana, E | - |
dc.contributor.author | Fang, X | - |
dc.contributor.author | Mu, XJ | - |
dc.contributor.author | Sisu, C | - |
dc.contributor.author | Li, Y | - |
dc.contributor.author | Luo, R | - |
dc.contributor.author | Zhu, H | - |
dc.contributor.author | Lee, C | - |
dc.contributor.author | Griffin, L | - |
dc.contributor.author | Hsieh, C-H | - |
dc.contributor.author | Mills, RE | - |
dc.contributor.author | Shi, X | - |
dc.contributor.author | Guo, X | - |
dc.contributor.author | von Grotthuss, M | - |
dc.contributor.author | Zhang, C | - |
dc.contributor.author | Marth, GT | - |
dc.contributor.author | Garrison, EP | - |
dc.contributor.author | Kural, D | - |
dc.contributor.author | Lee, W-P | - |
dc.contributor.author | Ward, AN | - |
dc.contributor.author | Wu, J | - |
dc.contributor.author | Zhang, M | - |
dc.contributor.author | McCarroll, SA | - |
dc.contributor.author | Jian, M | - |
dc.contributor.author | Altshuler, DM | - |
dc.contributor.author | Banks, E | - |
dc.contributor.author | del Angel, G | - |
dc.contributor.author | Genovese, G | - |
dc.contributor.author | Handsaker, RE | - |
dc.contributor.author | Hartl, C | - |
dc.contributor.author | Nemesh, JC | - |
dc.contributor.author | Shakir, K | - |
dc.contributor.author | Yoon, SC | - |
dc.contributor.author | Lihm, J | - |
dc.contributor.author | Jiang, H | - |
dc.contributor.author | Makarov, V | - |
dc.contributor.author | Degenhardt, J | - |
dc.contributor.author | Flicek, P | - |
dc.contributor.author | Clarke, L | - |
dc.contributor.author | Smith, RE | - |
dc.contributor.author | Zheng-Bradley, X | - |
dc.contributor.author | Korbel, JO | - |
dc.contributor.author | Rausch, T | - |
dc.contributor.author | Stuetz, AM | - |
dc.contributor.author | Bentley, DR | - |
dc.contributor.author | Jin, X | - |
dc.contributor.author | Barnes, B | - |
dc.contributor.author | Cheetham, RK | - |
dc.contributor.author | Eberle, M | - |
dc.contributor.author | Humphray, S | - |
dc.contributor.author | Kahn, S | - |
dc.contributor.author | Murray, L | - |
dc.contributor.author | Shaw, R | - |
dc.contributor.author | Ye, K | - |
dc.contributor.author | Batzer, MA | - |
dc.contributor.author | Konkel, MK | - |
dc.contributor.author | Li, G | - |
dc.contributor.author | Walker, JA | - |
dc.contributor.author | Lacroute, P | - |
dc.contributor.author | Craig, DW | - |
dc.contributor.author | Homer, N | - |
dc.contributor.author | Church, D | - |
dc.contributor.author | Xiao, C | - |
dc.contributor.author | Sebat, J | - |
dc.contributor.author | Bafna, V | - |
dc.contributor.author | Michaelson, JJ | - |
dc.contributor.author | Ye, K | - |
dc.contributor.author | Li, J | - |
dc.contributor.author | Devine, SE | - |
dc.contributor.author | Liu, X | - |
dc.contributor.author | Maroo, A | - |
dc.contributor.author | Tallon, LJ | - |
dc.contributor.author | Lunter, G | - |
dc.contributor.author | McVean, GA | - |
dc.contributor.author | Iqbal, Z | - |
dc.contributor.author | Witherspoon, D | - |
dc.contributor.author | Xing, J | - |
dc.contributor.author | Eichler, EE | - |
dc.contributor.author | Li, Y | - |
dc.contributor.author | Alkan, C | - |
dc.contributor.author | Hajirasouliha, I | - |
dc.contributor.author | Hormozdiari, F | - |
dc.contributor.author | Ko, A | - |
dc.contributor.author | Sudmant, PH | - |
dc.contributor.author | Chen, K | - |
dc.contributor.author | Chinwalla, A | - |
dc.contributor.author | Ding, L | - |
dc.contributor.author | McLellan, MD | - |
dc.contributor.author | Wallis, JW | - |
dc.contributor.author | Li, Z | - |
dc.contributor.author | Hurles, ME | - |
dc.contributor.author | Ben, B | - |
dc.contributor.author | Li, H | - |
dc.contributor.author | Lindsay, SJ | - |
dc.contributor.author | Ning, Z | - |
dc.contributor.author | Scally, A | - |
dc.contributor.author | Walter, K | - |
dc.contributor.author | Zhang, Y | - |
dc.contributor.author | Gerstein, MB | - |
dc.contributor.author | Abyzov, A | - |
dc.contributor.author | Liu, X | - |
dc.contributor.author | Chen, J | - |
dc.contributor.author | Clarke, D | - |
dc.contributor.author | Khurana, E | - |
dc.contributor.author | Mu, XJ | - |
dc.contributor.author | Sisu, C | - |
dc.contributor.author | Gibbs, RA | - |
dc.contributor.author | Yu, F | - |
dc.contributor.author | Bainbridge, M | - |
dc.contributor.author | Challis, D | - |
dc.contributor.author | Evani, US | - |
dc.contributor.author | Lu, Y | - |
dc.contributor.author | Kovar, C | - |
dc.contributor.author | Lewis, L | - |
dc.contributor.author | Lu, J | - |
dc.contributor.author | Muzny, D | - |
dc.contributor.author | Nagaswamy, U | - |
dc.contributor.author | Reid, J | - |
dc.contributor.author | Sabo, A | - |
dc.contributor.author | Yu, J | - |
dc.contributor.author | Guo, X | - |
dc.contributor.author | Li, Y | - |
dc.contributor.author | Ma, X | - |
dc.contributor.author | Wu, R | - |
dc.contributor.author | Marth, GT | - |
dc.contributor.author | Garrison, EP | - |
dc.contributor.author | Leong, WF | - |
dc.contributor.author | Ward, AN | - |
dc.contributor.author | del Angel, G | - |
dc.contributor.author | DePristo, MA | - |
dc.contributor.author | Gabriel, SB | - |
dc.contributor.author | Gupta, N | - |
dc.contributor.author | Hartl, C | - |
dc.contributor.author | Su, Z | - |
dc.contributor.author | Poplin, RE | - |
dc.contributor.author | Clark, AG | - |
dc.contributor.author | Rodriguez-Flores, JL | - |
dc.contributor.author | Flicek, P | - |
dc.contributor.author | Clarke, L | - |
dc.contributor.author | Smith, RE | - |
dc.contributor.author | Zheng-Bradley, X | - |
dc.contributor.author | MacArthur, DG | - |
dc.contributor.author | Bustamante, CD | - |
dc.contributor.author | Gravel, S | - |
dc.contributor.author | Tai, S | - |
dc.contributor.author | Craig, DW | - |
dc.contributor.author | Christoforides, A | - |
dc.contributor.author | Homer, N | - |
dc.contributor.author | Izatt, T | - |
dc.contributor.author | Sherry, ST | - |
dc.contributor.author | Xiao, C | - |
dc.contributor.author | Dermitzakis, ET | - |
dc.contributor.author | Abecasis, GR | - |
dc.contributor.author | Kang, HM | - |
dc.contributor.author | McVean, GA | - |
dc.contributor.author | Tang, M | - |
dc.contributor.author | Mardis, ER | - |
dc.contributor.author | Dooling, D | - |
dc.contributor.author | Fulton, L | - |
dc.contributor.author | Fulton, R | - |
dc.contributor.author | Koboldt, DC | - |
dc.contributor.author | Durbin, RM | - |
dc.contributor.author | Balasubramaniam, S | - |
dc.contributor.author | Keane, TM | - |
dc.contributor.author | McCarthy, S | - |
dc.contributor.author | Stalker, J | - |
dc.contributor.author | Wang, B | - |
dc.contributor.author | Gerstein, MB | - |
dc.contributor.author | Balasubramanian, S | - |
dc.contributor.author | Habegger, L | - |
dc.contributor.author | Garrison, EP | - |
dc.contributor.author | Gibbs, RA | - |
dc.contributor.author | Bainbridge, M | - |
dc.contributor.author | Muzny, D | - |
dc.contributor.author | Yu, F | - |
dc.contributor.author | Yu, J | - |
dc.contributor.author | del Angel, G | - |
dc.contributor.author | Wang, G | - |
dc.contributor.author | Handsaker, RE | - |
dc.contributor.author | Makarov, V | - |
dc.contributor.author | Rodriguez-Flores, JL | - |
dc.contributor.author | Jin, H | - |
dc.contributor.author | Kim, W | - |
dc.contributor.author | Kim, KC | - |
dc.contributor.author | Flicek, P | - |
dc.contributor.author | Beal, K | - |
dc.contributor.author | Clarke, L | - |
dc.contributor.author | Cunningham, F | - |
dc.contributor.author | Wu, H | - |
dc.contributor.author | Herrero, J | - |
dc.contributor.author | McLaren, WM | - |
dc.contributor.author | Ritchie, GRS | - |
dc.contributor.author | Zheng-Bradley, X | - |
dc.contributor.author | Tabrizi, S | - |
dc.contributor.author | MacArthur, DG | - |
dc.contributor.author | Lek, M | - |
dc.contributor.author | Bustamante, CD | - |
dc.contributor.author | De la Vega, FM | - |
dc.contributor.author | Craig, DW | - |
dc.contributor.author | Wu, R | - |
dc.contributor.author | Kurdoglu, AA | - |
dc.contributor.author | Lappalainen, T | - |
dc.contributor.author | Rosenfeld, JA | - |
dc.contributor.author | Michelson, LP | - |
dc.contributor.author | Awadalla, P | - |
dc.contributor.author | Hodgkinson, A | - |
dc.contributor.author | McVean, GA | - |
dc.contributor.author | Chen, K | - |
dc.contributor.author | Tyler-Smith, C | - |
dc.contributor.author | Chen, Y | - |
dc.contributor.author | Yin, Y | - |
dc.contributor.author | Colonna, V | - |
dc.contributor.author | Frankish, A | - |
dc.contributor.author | Harrow, J | - |
dc.contributor.author | Xue, Y | - |
dc.contributor.author | Gerstein, MB | - |
dc.contributor.author | Abyzov, A | - |
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dc.contributor.author | Chen, J | - |
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dc.date.accessioned | 2017-07-13T13:34:37Z | - |
dc.date.available | 2012-11-01 | - |
dc.date.available | 2017-07-13T13:34:37Z | - |
dc.date.issued | 2012 | - |
dc.identifier.citation | NATURE, 2012, 491 (7422), pp. 56 - 65 (10) | en_US |
dc.identifier.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 | - |
dc.identifier.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 | - |
dc.identifier.issn | 0028-0836 | - |
dc.identifier.uri | http://bura.brunel.ac.uk/handle/2438/14917 | - |
dc.description.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. | en_US |
dc.format.extent | 56 - 65 (10) | - |
dc.language | English | - |
dc.language.iso | en | en_US |
dc.publisher | NATURE PUBLISHING GROUP | en_US |
dc.subject | Science & Technology | en_US |
dc.subject | Multidisciplinary Sciences | en_US |
dc.subject | Science & Technology - Other Topics | en_US |
dc.subject | MULTIDISCIPLINARY SCIENCES | en_US |
dc.subject | COPY NUMBER VARIATION | en_US |
dc.subject | POPULATION-SCALE | en_US |
dc.subject | WIDE ASSOCIATION | en_US |
dc.subject | CODING VARIATION | en_US |
dc.subject | RARE | en_US |
dc.subject | VARIANTS | en_US |
dc.subject | DISEASE | en_US |
dc.subject | LOCI | en_US |
dc.subject | DISCOVERY | en_US |
dc.subject | HISTORY | en_US |
dc.title | An integrated map of genetic variation from 1,092 human genomes | en_US |
dc.type | Article | en_US |
dc.identifier.doi | http://dx.doi.org/10.1038/nature11632 | - |
dc.relation.isPartOf | NATURE | - |
pubs.issue | 7422 | - |
pubs.publication-status | Published | - |
pubs.volume | 491 | - |
Appears in Collections: | Dept of Health Sciences Research Papers |
Files in This Item:
File | Description | Size | Format | |
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Fulltext.pdf | 1.49 MB | Adobe PDF | View/Open |
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