Please use this identifier to cite or link to this item: http://bura.brunel.ac.uk/handle/2438/14924
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 Clinical Sciences Research Papers

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