IRIS

Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then we experimentally validated candidates. We analyzed both coding and noncoding regions, with the former corroborating the latter. We found regions particularly sensitive to mutations ("ultrasensitive") and variants that are disruptive because of mechanistic effects on transcription-factor binding (that is, "motif-breakers"). We also found variants in regions with higher network centrality tend to be deleterious. Insertions and deletions followed a similar pattern to single-nucleotide variants, with some notable exceptions (e. g., certain deletions and enhancers). On the basis of these patterns, we developed a computational tool (FunSeq), whose application to similar to 90 cancer genomes reveals nearly a hundred candidate noncoding drivers.

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics / Altshuler, Dm; Durbin, Rm; Abecasis, Gr; Bentley, Dr; Chakravarti, A; Clark, Ag; Donnelly, P; Eichler, Ee; Flicek, P; Gabriel, Sb; Gibbs, Ra; Green, Ed; Hurles, Me; Knoppers, Bm; Korbel, Jo; Lander, Es; Lee, C; Lehrach, H; Mardis, Er; Marth, Gt; Mcvean, Ga; Nickerson, Da; Schmidt, Jp; Sherry, St; Wang, J; Wilson, Rk; Gibbs, Ra; Dinh, H; Kovar, C; Lee, S; Lewis, L; Muzny, D; Reid, J; Wang, M; Wang, J; Fang, X; Guo, X; Jian, M; Jiang, H; Jin, X; Li, G; Li, J; Li, Y; Li, Z; Liu, X; Lu, Y; Ma, X; Su, Z; Tai, S; Tang, M; Wang, B; Wang, G; Wu, H; Wu, R; Yin, Y; Zhang, W; Zhao, J; Zhao, M; Zheng, X; Zhou, Y; Lander, Es; Altshuler, Dm; Gabriel, Sb; Gupta, N; Flicek, P; Clarke, L; Leinonen, R; Smith, Re; Zheng Bradley, X; Bentley, Dr; Grocock, R; 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, Ml; 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; Schmidt, Jp; Davies, Cj; Gollub, J; Webster, T; Wong, B; Zhan, Y; Auton, A; Gibbs, Ra; Yu, F; Bainbridge, M; Challis, D; Evani, Us; Lu, J; Muzny, D; Nagaswamy, U; Reid, J; Sabo, A; Wang, Y; Yu, J; Wang, J; Coin, Lj; Fang, L; Guo, X; Jin, X; Li, G; Li, Q; Li, Y; Li, Z; Lin, H; Liu, B; Luo, R; Qin, N; Shao, H; Wang, B; Xie, Y; Ye, C; Yu, C; Zhang, F; Zheng, H; Zhu, H; Marth, Gt; Garrison, Ep; Kural, D; Lee, Wp; Leong, Wf; Ward, An; Wu, J; Zhang, M; Lee, C; Griffin, L; Hsieh, Ch; Mills, Re; Shi, X; von Grotthuss, M; Zhang, C; Daly, Mj; Depristo, Ma; Altshuler, Dm; Banks, E; Bhatia, G; Carneiro, Mo; del Angel, G; Gabriel, Sb; Genovese, G; Gupta, N; Handsaker, Re; Hartl, C; Lander, Es; Mccarroll, Sa; Nemesh, Jc; Poplin, Re; Schaffner, Sf; Shakir, K; Yoon, Sc; Lihm, J; Makarov, V; Jin, H; Kim, W; Kim, Kc; Korbel, Jo; Rausch, T; Flicek, P; Beal, K; Clarke, L; Cunningham, F; Herrero, J; Mclaren, Wm; Ritchie, Gr; Smith, Re; Zheng Bradley, X; Clark, Ag; Gottipati, S; Keinan, A; Rodriguez Flores, Jl; Sabeti, Pc; Grossman, Sr; Tabrizi, S; Tariyal, R; Cooper, Dn; Ball, Ev; Stenson, Pd; Bentley, Dr; Barnes, B; Bauer, M; Cheetham, R; Cox, T; Eberle, M; Humphray, S; Kahn, S; Murray, L; Peden, J; Shaw, R; Ye, K; Batzer, Ma; Konkel, Mk; Walker, Ja; Macarthur, Dg; Lek, M; Sudbrak, R; Amstislavskiy, Vs; Herwig, R; Shriver, Md; Bustamante, Cd; Byrnes, Jk; De La Vega, M; Gravel, S; Kenny, Ee; Kidd, Jm; Lacroute, P; Maples, Bk; Moreno Estrada, A; Zakharia, F; Halperin, E; Baran, Y; Craig, Dw; Christoforides, A; Homer, N; Izatt, T; Kurdoglu, Aa; Sinari, Sa; Squire, K; Sherry, St; Xiao, C; Sebat, J; Bafna, V; Ye, K; Burchard, Eg; Hernandez, Rd; Gignoux, Cr; Haussler, D; Katzman, Sj; Kent, W; Howie, B; Ruiz Linares, A; Dermitzakis, Et; Lappalainen, T; Devine, Se; Liu, X; Maroo, A; Tallon, Lj; Rosenfeld, Ja; Michelson, Lp; Abecasis, Gr; Kang, Hm; Anderson, P; Angius, A; Bigham, A; Blackwell, T; Busonero, F; Cucca, Francesco; Fuchsberger, C; Jones, C; Jun, G; Li, Y; Lyons, R; Maschio, A; Porcu, E; Reinier, F; Sanna, S; Schlessinger, D; Sidore, C; Tan, A; Trost, Mk; Awadalla, P; Hodgkinson, A; Lunter, G; Mcvean, Ga; Marchini, Jl; Myers, S; Churchhouse, C; Delaneau, O; Gupta Hinch, A; Iqbal, Z; Mathieson, I; Rimmer, A; Xifara, Dk; Oleksyk, Tk; Fu, Y; Liu, X; Xiong, M; Jorde, L; Witherspoon, D; Xing, J; Eichler, Ee; Browning, Bl; Alkan, C; Hajirasouliha, I; Hormozdiari, F; Ko, A; Sudmant, Ph; Mardis, Er; Chen, K; Chinwalla, A; Ding, L; Dooling, D; Koboldt, Dc; Mclellan, Md; Wallis, Jw; Wendl, Mc; Zhang, Q; Durbin, Rm; Hurles, Me; Tyler Smith, C; Albers, Ca; Ayub, Q; Balasubramaniam, S; Chen, Y; Coffey, Aj; Colonna, V; Danecek, P; Huang, N; Jostins, L; Keane, Tm; Li, H; Mccarthy, S; Scally, A; Stalker, J; Walter, K; Xue, Y; Zhang, Y; Gerstein, Mb; Abyzov, A; Balasubramanian, S; Chen, J; Clarke, D; Fu, Y; Habegger, L; Harmanci, Ao; Jin, M; Khurana, E; Mu, Xj; Sisu, C; Li, Y; Luo, R; Zhu, H; Lee, C; Griffin, L; Hsieh, Ch; Mills, Re; Shi, X; von Grotthuss, M; Zhang, C; Marth, Gt; Garrison, Ep; Kural, D; Lee, Wp; Ward, An; Wu, J; Zhang, M; Mccarroll, Sa; Altshuler, Dm; Banks, E; del Angel, G; Genovese, G; Handsaker, Re; Hartl, C; Nemesh, Jc; Shakir, K; Yoon, Sc; Lihm, J; Makarov, V; Degenhardt, J; Flicek, P; Clarke, L; Smith, Re; Zheng Bradley, X; Korbel, Jo; Rausch, T; Stütz, Am; Bentley, Dr; Barnes, B; Cheetham, R; Eberle, M; Humphray, S; Kahn, S; Murray, L; Shaw, R; Ye, K; Batzer, Ma; Konkel, Mk; Walker, Ja; Lacroute, P; Craig, Dw; Homer, N; Church, D; Xiao, C; Sebat, J; Bafna, V; Michaelson, Jj; Ye, K; Devine, Se; Liu, X; Maroo, A; Tallon, Lj; Lunter, G; Mcvean, Ga; Iqbal, Z; Witherspoon, D; Xing, J; Eichler, Ee; Alkan, C; Hajirasouliha, I; Hormozdiari, F; Ko, A; Sudmant, Ph; Chen, K; Chinwalla, A; Ding, L; Mclellan, Md; Wallis, Jw; Hurles, Me; Blackburne, B; Li, H; Lindsay, Sj; Ning, Z; Scally, A; Walter, K; Zhang, Y; Gerstein, Mb; Abyzov, A; Chen, J; Clarke, D; Khurana, E; Mu, Xj; Sisu, C; Gibbs, Ra; Yu, F; Bainbridge, M; Challis, D; Evani, Us; Kovar, C; Lewis, L; Lu, J; Muzny, D; Nagaswamy, U; Reid, J; Sabo, A; Yu, J; Guo, X; Li, Y; Wu, R; Marth, Gt; Garrison, Ep; Leong, Wf; Ward, An; del Angel, G; Depristo, Ma; Gabriel, Sb; Gupta, N; Hartl, C; Poplin, Re; Clark, Ag; Rodriguez Flores, Jl; Flicek, P; Clarke, L; Smith, Re; Zheng Bradley, X; Macarthur, Dg; Bustamante, Cd; Gravel, S; Craig, Dw; Christoforides, A; Homer, N; Izatt, T; Sherry, St; Xiao, C; Dermitzakis, Et; Abecasis, Gr; Kang, Hm; Mcvean, Ga; Mardis, Er; Dooling, D; Fulton, L; Fulton, R; Koboldt, Dc; Durbin, Rm; Balasubramaniam, S; Keane, Tm; Mccarthy, S; Stalker, J; Gerstein, Mb; Balasubramanian, S; Habegger, L; Garrison, Ep; Gibbs, Ra; Bainbridge, M; Muzny, D; Yu, F; Yu, J; del Angel, G; Handsaker, Re; Makarov, V; Rodriguez Flores, Jl; Jin, H; Kim, W; Kim, Kc; Flicek, P; Beal, K; Clarke, L; Cunningham, F; Herrero, J; Mclaren, Wm; Ritchie, Gr; Zheng Bradley, X; Tabrizi, S; Macarthur, Dg; Lek, M; Bustamante, Cd; De La Vega, Fm; Craig, Dw; Kurdoglu, Aa; Lappalainen, T; Rosenfeld, Ja; Michelson, Lp; Awadalla, P; Hodgkinson, A; Mcvean, Ga; Chen, K; Tyler Smith, C; Chen, Y; Colonna, V; Frankish, A; Harrow, J; Xue, Y; Gerstein, Mb; Abyzov, A; Balasubramanian, S; Chen, J; Clarke, D; Fu, Y; Harmanci, Ao; Jin, M; Khurana, E; Mu, Xj; Sisu, C; Gibbs, Ra; Kovar, C; Kalra, D; Hale, W; Fowler, G; Muzny, D; Reid, J; Wang, J; Guo, X; Li, G; Li, Y; Zheng, X; Altshuler, Dm; Flicek, P; Clarke, L; Barker, J; Kelman, G; Kulesha, E; Leinonen, R; Mclaren, Wm; Radhakrishnan, R; Roa, A; Smirnov, D; Smith, Re; Streeter, I; Toneva, I; Vaughan, B; Zheng Bradley, X; Bentley, Dr; Cox, T; Humphray, S; Kahn, S; Sudbrak, R; Albrecht, Mw; Lienhard, M; Craig, Dw; Izatt, T; Kurdoglu, Aa; Sherry, St; Ananiev, V; Belaia, Z; Beloslyudtsev, D; Bouk, N; Chen, C; Church, D; Cohen, R; Cook, C; Garner, J; Hefferon, T; Kimelman, M; Liu, C; Lopez, J; Meric, P; O'Sullivan, C; Ostapchuk, Y; Phan, L; Ponomarov, S; Schneider, V; Shekhtman, E; Sirotkin, K; Slotta, D; Xiao, C; Zhang, H; Haussler, D; Abecasis, Gr; Mcvean, Ga; Alkan, C; Ko, A; Dooling, D; Durbin, Rm; Balasubramaniam, S; Keane, Tm; Mccarthy, S; Stalker, J; Chakravarti, A; Knoppers, Bm; Abecasis, Gr; Barnes, Kc; Beiswanger, C; Burchard, E; Bustamante, Cd; Cai, H; Cao, H; Durbin, Rm; Gharani, N; Gibbs, Ra; Gignoux, Cr; Gravel, S; Henn, B; Jones, D; Jorde, L; Kaye, Js; Keinan, A; Kent, A; Kerasidou, A; Li, Y; Mathias, R; Mcvean, G; Moreno Estrada, A; Ossorio, Pn; Parker, M; Reich, D; Rotimi, Cn; Royal, Cd; Sandoval, K; Su, Y; Sudbrak, R; Tian, Z; Timmermann, B; Tishkoff, S; Toji, Lh; Tyler Smith, C; Via, M; Wang, Y; Yang, H; Yang, L; Zhu, J; Bodmer, W; Bedoya, G; Ruiz Linares, A; Ming, Cz; Yang, G; You, Cj; Peltonen, L; Garcia Montero, A; Orfao, A; Dutil, J; Martinez Cruzado, Jc; Oleksyk, Tk; Brooks, Ld; Felsenfeld, Al; Mcewen, Je; Clemm, Nc; Duncanson, A; Dunn, M; Green, Ed; Guyer, Ms; Peterson, Jl; Abecasis, Gr; Auton, A; Brooks, Ld; Depristo, Ma; Durbin, Rm; Handsaker, Re; Kang, Hm; Marth, Gt; Mcvean, G. A.. - In: SCIENCE. - ISSN 0036-8075. - 342:6154(2013), p. 1235587.84. [10.1126/science.1235587]

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

CUCCA, Francesco;
2013-01-01

Abstract

Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then we experimentally validated candidates. We analyzed both coding and noncoding regions, with the former corroborating the latter. We found regions particularly sensitive to mutations ("ultrasensitive") and variants that are disruptive because of mechanistic effects on transcription-factor binding (that is, "motif-breakers"). We also found variants in regions with higher network centrality tend to be deleterious. Insertions and deletions followed a similar pattern to single-nucleotide variants, with some notable exceptions (e. g., certain deletions and enhancers). On the basis of these patterns, we developed a computational tool (FunSeq), whose application to similar to 90 cancer genomes reveals nearly a hundred candidate noncoding drivers.
2013
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics / Altshuler, Dm; Durbin, Rm; Abecasis, Gr; Bentley, Dr; Chakravarti, A; Clark, Ag; Donnelly, P; Eichler, Ee; Flicek, P; Gabriel, Sb; Gibbs, Ra; Green, Ed; Hurles, Me; Knoppers, Bm; Korbel, Jo; Lander, Es; Lee, C; Lehrach, H; Mardis, Er; Marth, Gt; Mcvean, Ga; Nickerson, Da; Schmidt, Jp; Sherry, St; Wang, J; Wilson, Rk; Gibbs, Ra; Dinh, H; Kovar, C; Lee, S; Lewis, L; Muzny, D; Reid, J; Wang, M; Wang, J; Fang, X; Guo, X; Jian, M; Jiang, H; Jin, X; Li, G; Li, J; Li, Y; Li, Z; Liu, X; Lu, Y; Ma, X; Su, Z; Tai, S; Tang, M; Wang, B; Wang, G; Wu, H; Wu, R; Yin, Y; Zhang, W; Zhao, J; Zhao, M; Zheng, X; Zhou, Y; Lander, Es; Altshuler, Dm; Gabriel, Sb; Gupta, N; Flicek, P; Clarke, L; Leinonen, R; Smith, Re; Zheng Bradley, X; Bentley, Dr; Grocock, R; 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, Ml; 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; Schmidt, Jp; Davies, Cj; Gollub, J; Webster, T; Wong, B; Zhan, Y; Auton, A; Gibbs, Ra; Yu, F; Bainbridge, M; Challis, D; Evani, Us; Lu, J; Muzny, D; Nagaswamy, U; Reid, J; Sabo, A; Wang, Y; Yu, J; Wang, J; Coin, Lj; Fang, L; Guo, X; Jin, X; Li, G; Li, Q; Li, Y; Li, Z; Lin, H; Liu, B; Luo, R; Qin, N; Shao, H; Wang, B; Xie, Y; Ye, C; Yu, C; Zhang, F; Zheng, H; Zhu, H; Marth, Gt; Garrison, Ep; Kural, D; Lee, Wp; Leong, Wf; Ward, An; Wu, J; Zhang, M; Lee, C; Griffin, L; Hsieh, Ch; Mills, Re; Shi, X; von Grotthuss, M; Zhang, C; Daly, Mj; Depristo, Ma; Altshuler, Dm; Banks, E; Bhatia, G; Carneiro, Mo; del Angel, G; Gabriel, Sb; Genovese, G; Gupta, N; Handsaker, Re; Hartl, C; Lander, Es; Mccarroll, Sa; Nemesh, Jc; Poplin, Re; Schaffner, Sf; Shakir, K; Yoon, Sc; Lihm, J; Makarov, V; Jin, H; Kim, W; Kim, Kc; Korbel, Jo; Rausch, T; Flicek, P; Beal, K; Clarke, L; Cunningham, F; Herrero, J; Mclaren, Wm; Ritchie, Gr; Smith, Re; Zheng Bradley, X; Clark, Ag; Gottipati, S; Keinan, A; Rodriguez Flores, Jl; Sabeti, Pc; Grossman, Sr; Tabrizi, S; Tariyal, R; Cooper, Dn; Ball, Ev; Stenson, Pd; Bentley, Dr; Barnes, B; Bauer, M; Cheetham, R; Cox, T; Eberle, M; Humphray, S; Kahn, S; Murray, L; Peden, J; Shaw, R; Ye, K; Batzer, Ma; Konkel, Mk; Walker, Ja; Macarthur, Dg; Lek, M; Sudbrak, R; Amstislavskiy, Vs; Herwig, R; Shriver, Md; Bustamante, Cd; Byrnes, Jk; De La Vega, M; Gravel, S; Kenny, Ee; Kidd, Jm; Lacroute, P; Maples, Bk; Moreno Estrada, A; Zakharia, F; Halperin, E; Baran, Y; Craig, Dw; Christoforides, A; Homer, N; Izatt, T; Kurdoglu, Aa; Sinari, Sa; Squire, K; Sherry, St; Xiao, C; Sebat, J; Bafna, V; Ye, K; Burchard, Eg; Hernandez, Rd; Gignoux, Cr; Haussler, D; Katzman, Sj; Kent, W; Howie, B; Ruiz Linares, A; Dermitzakis, Et; Lappalainen, T; Devine, Se; Liu, X; Maroo, A; Tallon, Lj; Rosenfeld, Ja; Michelson, Lp; Abecasis, Gr; Kang, Hm; Anderson, P; Angius, A; Bigham, A; Blackwell, T; Busonero, F; Cucca, Francesco; Fuchsberger, C; Jones, C; Jun, G; Li, Y; Lyons, R; Maschio, A; Porcu, E; Reinier, F; Sanna, S; Schlessinger, D; Sidore, C; Tan, A; Trost, Mk; Awadalla, P; Hodgkinson, A; Lunter, G; Mcvean, Ga; Marchini, Jl; Myers, S; Churchhouse, C; Delaneau, O; Gupta Hinch, A; Iqbal, Z; Mathieson, I; Rimmer, A; Xifara, Dk; Oleksyk, Tk; Fu, Y; Liu, X; Xiong, M; Jorde, L; Witherspoon, D; Xing, J; Eichler, Ee; Browning, Bl; Alkan, C; Hajirasouliha, I; Hormozdiari, F; Ko, A; Sudmant, Ph; Mardis, Er; Chen, K; Chinwalla, A; Ding, L; Dooling, D; Koboldt, Dc; Mclellan, Md; Wallis, Jw; Wendl, Mc; Zhang, Q; Durbin, Rm; Hurles, Me; Tyler Smith, C; Albers, Ca; Ayub, Q; Balasubramaniam, S; Chen, Y; Coffey, Aj; Colonna, V; Danecek, P; Huang, N; Jostins, L; Keane, Tm; Li, H; Mccarthy, S; Scally, A; Stalker, J; Walter, K; Xue, Y; Zhang, Y; Gerstein, Mb; Abyzov, A; Balasubramanian, S; Chen, J; Clarke, D; Fu, Y; Habegger, L; Harmanci, Ao; Jin, M; Khurana, E; Mu, Xj; Sisu, C; Li, Y; Luo, R; Zhu, H; Lee, C; Griffin, L; Hsieh, Ch; Mills, Re; Shi, X; von Grotthuss, M; Zhang, C; Marth, Gt; Garrison, Ep; Kural, D; Lee, Wp; Ward, An; Wu, J; Zhang, M; Mccarroll, Sa; Altshuler, Dm; Banks, E; del Angel, G; Genovese, G; Handsaker, Re; Hartl, C; Nemesh, Jc; Shakir, K; Yoon, Sc; Lihm, J; Makarov, V; Degenhardt, J; Flicek, P; Clarke, L; Smith, Re; Zheng Bradley, X; Korbel, Jo; Rausch, T; Stütz, Am; Bentley, Dr; Barnes, B; Cheetham, R; Eberle, M; Humphray, S; Kahn, S; Murray, L; Shaw, R; Ye, K; Batzer, Ma; Konkel, Mk; Walker, Ja; Lacroute, P; Craig, Dw; Homer, N; Church, D; Xiao, C; Sebat, J; Bafna, V; Michaelson, Jj; Ye, K; Devine, Se; Liu, X; Maroo, A; Tallon, Lj; Lunter, G; Mcvean, Ga; Iqbal, Z; Witherspoon, D; Xing, J; Eichler, Ee; Alkan, C; Hajirasouliha, I; Hormozdiari, F; Ko, A; Sudmant, Ph; Chen, K; Chinwalla, A; Ding, L; Mclellan, Md; Wallis, Jw; Hurles, Me; Blackburne, B; Li, H; Lindsay, Sj; Ning, Z; Scally, A; Walter, K; Zhang, Y; Gerstein, Mb; Abyzov, A; Chen, J; Clarke, D; Khurana, E; Mu, Xj; Sisu, C; Gibbs, Ra; Yu, F; Bainbridge, M; Challis, D; Evani, Us; Kovar, C; Lewis, L; Lu, J; Muzny, D; Nagaswamy, U; Reid, J; Sabo, A; Yu, J; Guo, X; Li, Y; Wu, R; Marth, Gt; Garrison, Ep; Leong, Wf; Ward, An; del Angel, G; Depristo, Ma; Gabriel, Sb; Gupta, N; Hartl, C; Poplin, Re; Clark, Ag; Rodriguez Flores, Jl; Flicek, P; Clarke, L; Smith, Re; Zheng Bradley, X; Macarthur, Dg; Bustamante, Cd; Gravel, S; Craig, Dw; Christoforides, A; Homer, N; Izatt, T; Sherry, St; Xiao, C; Dermitzakis, Et; Abecasis, Gr; Kang, Hm; Mcvean, Ga; Mardis, Er; Dooling, D; Fulton, L; Fulton, R; Koboldt, Dc; Durbin, Rm; Balasubramaniam, S; Keane, Tm; Mccarthy, S; Stalker, J; Gerstein, Mb; Balasubramanian, S; Habegger, L; Garrison, Ep; Gibbs, Ra; Bainbridge, M; Muzny, D; Yu, F; Yu, J; del Angel, G; Handsaker, Re; Makarov, V; Rodriguez Flores, Jl; Jin, H; Kim, W; Kim, Kc; Flicek, P; Beal, K; Clarke, L; Cunningham, F; Herrero, J; Mclaren, Wm; Ritchie, Gr; Zheng Bradley, X; Tabrizi, S; Macarthur, Dg; Lek, M; Bustamante, Cd; De La Vega, Fm; Craig, Dw; Kurdoglu, Aa; Lappalainen, T; Rosenfeld, Ja; Michelson, Lp; Awadalla, P; Hodgkinson, A; Mcvean, Ga; Chen, K; Tyler Smith, C; Chen, Y; Colonna, V; Frankish, A; Harrow, J; Xue, Y; Gerstein, Mb; Abyzov, A; Balasubramanian, S; Chen, J; Clarke, D; Fu, Y; Harmanci, Ao; Jin, M; Khurana, E; Mu, Xj; Sisu, C; Gibbs, Ra; Kovar, C; Kalra, D; Hale, W; Fowler, G; Muzny, D; Reid, J; Wang, J; Guo, X; Li, G; Li, Y; Zheng, X; Altshuler, Dm; Flicek, P; Clarke, L; Barker, J; Kelman, G; Kulesha, E; Leinonen, R; Mclaren, Wm; Radhakrishnan, R; Roa, A; Smirnov, D; Smith, Re; Streeter, I; Toneva, I; Vaughan, B; Zheng Bradley, X; Bentley, Dr; Cox, T; Humphray, S; Kahn, S; Sudbrak, R; Albrecht, Mw; Lienhard, M; Craig, Dw; Izatt, T; Kurdoglu, Aa; Sherry, St; Ananiev, V; Belaia, Z; Beloslyudtsev, D; Bouk, N; Chen, C; Church, D; Cohen, R; Cook, C; Garner, J; Hefferon, T; Kimelman, M; Liu, C; Lopez, J; Meric, P; O'Sullivan, C; Ostapchuk, Y; Phan, L; Ponomarov, S; Schneider, V; Shekhtman, E; Sirotkin, K; Slotta, D; Xiao, C; Zhang, H; Haussler, D; Abecasis, Gr; Mcvean, Ga; Alkan, C; Ko, A; Dooling, D; Durbin, Rm; Balasubramaniam, S; Keane, Tm; Mccarthy, S; Stalker, J; Chakravarti, A; Knoppers, Bm; Abecasis, Gr; Barnes, Kc; Beiswanger, C; Burchard, E; Bustamante, Cd; Cai, H; Cao, H; Durbin, Rm; Gharani, N; Gibbs, Ra; Gignoux, Cr; Gravel, S; Henn, B; Jones, D; Jorde, L; Kaye, Js; Keinan, A; Kent, A; Kerasidou, A; Li, Y; Mathias, R; Mcvean, G; Moreno Estrada, A; Ossorio, Pn; Parker, M; Reich, D; Rotimi, Cn; Royal, Cd; Sandoval, K; Su, Y; Sudbrak, R; Tian, Z; Timmermann, B; Tishkoff, S; Toji, Lh; Tyler Smith, C; Via, M; Wang, Y; Yang, H; Yang, L; Zhu, J; Bodmer, W; Bedoya, G; Ruiz Linares, A; Ming, Cz; Yang, G; You, Cj; Peltonen, L; Garcia Montero, A; Orfao, A; Dutil, J; Martinez Cruzado, Jc; Oleksyk, Tk; Brooks, Ld; Felsenfeld, Al; Mcewen, Je; Clemm, Nc; Duncanson, A; Dunn, M; Green, Ed; Guyer, Ms; Peterson, Jl; Abecasis, Gr; Auton, A; Brooks, Ld; Depristo, Ma; Durbin, Rm; Handsaker, Re; Kang, Hm; Marth, Gt; Mcvean, G. A.. - In: SCIENCE. - ISSN 0036-8075. - 342:6154(2013), p. 1235587.84. [10.1126/science.1235587]
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