Please use this identifier to cite or link to this item: http://bura.brunel.ac.uk/handle/2438/14917
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 Clinical Sciences Research Papers

Files in This Item:
File Description SizeFormat 
Fulltext.pdf1.49 MBAdobe PDFView/Open


Items in BURA are protected by copyright, with all rights reserved, unless otherwise indicated.