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An integrated map of genetic variation from 1,092 human genomes 期刊论文
NATURE, 2012, 卷号: 491, 期号: 7422, 页码: 56-65
Authors:  Altshuler, David M.;  Durbin, Richard M.;  Abecasis, Goncalo R.;  Bentley, David R.;  Chakravarti, Aravinda;  Clark, Andrew G.;  Donnelly, Peter;  Eichler, Evan E.;  Flicek, Paul;  Gabriel, Stacey B.;  Gibbs, Richard A.;  Green, Eric D.;  Hurles, Matthew E.;  Knoppers, Bartha M.;  Korbel, Jan O.;  Lander, Eric S.;  Lee, Charles;  Lehrach, Hans;  Mardis, Elaine R.;  Marth, Gabor T.;  McVean, Gil A.;  Nickerson, Deborah A.;  Schmidt, Jeanette P.;  Sherry, Stephen T.;  Wang, Jun;  Wilson, Richard K.;  Gibbs, Richard A.;  Dinh, Huyen;  Kovar, Christie;  Lee, Sandra;  Lewis, Lora;  Muzny, Donna;  Reid, Jeff;  Wang, Min;  Wang, Jun;  Fang, Xiaodong;  Guo, Xiaosen;  Jian, Min;  Jiang, Hui;  Jin, Xin;  Li, Guoqing;  Li, Jingxiang;  Li, Yingrui;  Li, Zhuo;  Liu, Xiao;  Lu, Yao;  Ma, Xuedi;  Su, Zhe;  Tai, Shuaishuai;  Tang, Meifang;  Wang, Bo;  Wang, Guangbiao;  Wu, Honglong;  Wu, Renhua;  Yin, Ye;  Zhang, Wenwei;  Zhao, Jiao;  Zhao, Meiru;  Zheng, Xiaole;  Zhou, Yan;  Lander, Eric S.;  Altshuler, David M.;  Gabriel, Stacey B.;  Gupta, Namrata;  Flicek, Paul;  Clarke, Laura;  Leinonen, Rasko;  Smith, Richard E.;  Zheng-Bradley, Xiangqun;  Bentley, David R.;  Grocock, Russell;  Humphray, Sean;  James, Terena;  Kingsbury, Zoya;  Lehrach, Hans;  Sudbrak, Ralf;  Albrecht, Marcus W.;  Amstislavskiy, Vyacheslav S.;  Borodina, Tatiana A.;  Lienhard, Matthias;  Mertes, Florian;  Sultan, Marc;  Timmermann, Bernd;  Yaspo, Marie-Laure;  Sherry, Stephen T.;  McVean, Gil A.;  Mardis, Elaine R.;  Wilson, Richard K.;  Fulton, Lucinda;  Fulton, Robert;  Weinstock, George M.;  Durbin, Richard M.;  Balasubramaniam, Senduran;  Burton, John;  Danecek, Petr;  Keane, Thomas M.;  Kolb-Kokocinski, Anja;  McCarthy, Shane;  Stalker, James;  Quail, Michael;  Schmidt, Jeanette P.;  Davies, Christopher J.;  Gollub, Jeremy;  Webster, Teresa;  Wong, Brant;  Zhan, Yiping;  Auton, Adam;  Gibbs, Richard A.;  Yu, Fuli;  Bainbridge, Matthew;  Challis, Danny;  Evani, Uday S.;  Lu, James;  Muzny, Donna;  Nagaswamy, Uma;  Reid, Jeff;  Sabo, Aniko;  Wang, Yi;  Yu, Jin;  Wang, Jun;  Coin, Lachlan J. M.;  Fang, Lin;  Guo, Xiaosen;  Jin, Xin;  Li, Guoqing;  Li, Qibin;  Li, Yingrui;  Li, Zhenyu;  Lin, Haoxiang;  Liu, Binghang;  Luo, Ruibang;  Qin, Nan;  Shao, Haojing;  Wang, Bingqiang;  Xie, Yinlong;  Ye, Chen;  Yu, Chang;  Zhang, Fan;  Zheng, Hancheng;  Zhu, Hongmei;  Marth, Gabor T.;  Garrison, Erik P.;  Kural, Deniz;  Lee, Wan-Ping;  Leong, Wen Fung;  Ward, Alistair N.;  Wu, Jiantao;  Zhang, Mengyao;  Lee, Charles;  Griffin, Lauren;  Hsieh, Chih-Heng;  Mills, Ryan E.;  Shi, Xinghua;  von Grotthuss, Marcin;  Zhang, Chengsheng;  Daly, Mark J.;  DePristo, Mark A.;  Altshuler, David M.;  Banks, Eric;  Bhatia, Gaurav;  Carneiro, Mauricio O.;  del Angel, Guillermo;  Gabriel, Stacey B.;  Genovese, Giulio;  Gupta, Namrata;  Handsaker, Robert E.;  Hartl, Chris;  Lander, Eric S.;  McCarroll, Steven A.;  Nemesh, James C.;  Poplin, Ryan E.;  Schaffner, Stephen F.;  Shakir, Khalid;  Yoon, Seungtai C.;  Lihm, Jayon;  Makarov, Vladimir;  Jin, Hanjun;  Kim, Wook;  Kim, Ki Cheol;  Korbel, Jan O.;  Rausch, Tobias;  Flicek, Paul;  Beal, Kathryn;  Clarke, Laura;  Cunningham, Fiona;  Herrero, Javier;  McLaren, William M.;  Ritchie, Graham R. S.;  Smith, Richard E.;  Zheng-Bradley, Xiangqun;  Clark, Andrew G.;  Gottipati, Srikanth;  Keinan, Alon;  Rodriguez-Flores, Juan L.;  Sabeti, Pardis C.;  Grossman, Sharon R.;  Tabrizi, Shervin;  Tariyal, Ridhi;  Cooper, David N.;  Ball, Edward V.;  Stenson, Peter D.;  Bentley, David R.;  Barnes, Bret;  Bauer, Markus;  Cheetham, R. Keira;  Cox, Tony;  Eberle, Michael;  Humphray, Sean;  Kahn, Scott;  Murray, Lisa;  Peden, John;  Shaw, Richard;  Ye, Kai;  Batzer, Mark A.;  Konkel, Miriam K.;  Walker, Jerilyn A.;  MacArthur, Daniel G.;  Lek, Monkol;  Sudbrak, Ralf;  Amstislavskiy, Vyacheslav S.;  Herwig, Ralf;  Shriver, Mark D.;  Bustamante, Carlos D.;  Byrnes, Jake K.;  De la Vega, Francisco M.;  Gravel, Simon;  Kenny, Eimear E.;  Kidd, Jeffrey M.;  Lacroute, Phil;  Maples, Brian K.;  Moreno-Estrada, Andres;  Zakharia, Fouad;  Halperin, Eran;  Baran, Yael;  Craig, David W.;  Christoforides, Alexis;  Homer, Nils;  Izatt, Tyler;  Kurdoglu, Ahmet A.;  Sinari, Shripad A.;  Squire, Kevin;  Sherry, Stephen T.;  Xiao, Chunlin;  Sebat, Jonathan;  Bafna, Vineet;  Ye, Kenny;  Burchard, Esteban G.;  Hernandez, Ryan D.;  Gignoux, Christopher R.;  Haussler, David;  Katzman, Sol J.;  Kent, W. James;  Howie, Bryan;  Ruiz-Linares, Andres;  Dermitzakis, Emmanouil T.;  Lappalainen, Tuuli;  Devine, Scott E.;  Liu, Xinyue;  Maroo, Ankit;  Tallon, Luke J.;  Rosenfeld, Jeffrey A.;  Michelson, Leslie P.;  Abecasis, Goncalo R.;  Kang, Hyun Min;  Anderson, Paul;  Angius, Andrea;  Bigham, Abigail;  Blackwell, Tom;  Busonero, Fabio;  Cucca, Francesco;  Fuchsberger, Christian;  Jones, Chris;  Jun, Goo;  Li, Yun;  Lyons, Robert;  Maschio, Andrea;  Porcu, Eleonora;  Reinier, Fred;  Sanna, Serena;  Schlessinger, David;  Sidore, Carlo;  Tan, Adrian;  Trost, Mary Kate;  Awadalla, Philip;  Hodgkinson, Alan;  Lunter, Gerton;  McVean, Gil A.;  Marchini, Jonathan L.;  Myers, Simon;  Churchhouse, Claire;  Delaneau, Olivier;  Gupta-Hinch, Anjali;  Iqbal, Zamin;  Mathieson, Iain;  Rimmer, Andy;  Xifara, Dionysia K.;  Oleksyk, Taras K.;  Fu, Yunxin;  Liu, Xiaoming;  Xiong, Momiao;  Jorde, Lynn;  Witherspoon, David;  Xing, Jinchuan;  Eichler, Evan E.;  Browning, Brian L.;  Alkan, Can;  Hajirasouliha, Iman;  Hormozdiari, Fereydoun;  Ko, Arthur;  Sudmant, Peter H.;  Mardis, Elaine R.;  Chen, Ken;  Chinwalla, Asif;  Ding, Li;  Dooling, David;  Koboldt, Daniel C.;  McLellan, Michael D.;  Wallis, John W.;  Wendl, Michael C.;  Zhang, Qunyuan;  Durbin, Richard M.;  Hurles, Matthew E.;  Tyler-Smith, Chris;  Albers, Cornelis A.;  Ayub, Qasim;  Balasubramaniam, Senduran;  Chen, Yuan;  Coffey, Alison J.;  Colonna, Vincenza;  Danecek, Petr;  Huang, Ni;  Jostins, Luke;  Keane, Thomas M.;  Li, Heng;  McCarthy, Shane;  Scally, Aylwyn;  Stalker, James;  Walter, Klaudia;  Xue, Yali;  Zhang, Yujun;  Gerstein, Mark B.;  Abyzov, Alexej;  Balasubramanian, Suganthi;  Chen, Jieming;  Clarke, Declan;  Fu, Yao;  Habegger, Lukas;  Harmanci, Arif O.;  Jin, Mike;  Khurana, Ekta;  Mu, Xinmeng Jasmine;  Sisu, Cristina;  Li, Yingrui;  Luo, Ruibang;  Zhu, Hongmei;  Lee, Charles;  Griffin, Lauren;  Hsieh, Chih-Heng;  Mills, Ryan E.;  Shi, Xinghua;  von Grotthuss, Marcin;  Zhang, Chengsheng;  Marth, Gabor T.;  Garrison, Erik P.;  Kural, Deniz;  Lee, Wan-Ping;  Ward, Alistair N.;  Wu, Jiantao;  Zhang, Mengyao;  McCarroll, Steven A.;  Altshuler, David M.;  Banks, Eric;  del Angel, Guillermo;  Genovese, Giulio;  Handsaker, Robert E.;  Hartl, Chris;  Nemesh, James C.;  Shakir, Khalid;  Yoon, Seungtai C.;  Lihm, Jayon;  Makarov, Vladimir;  Degenhardt, Jeremiah;  Flicek, Paul;  Clarke, Laura;  Smith, Richard E.;  Zheng-Bradley, Xiangqun;  Korbel, Jan O.;  Rausch, Tobias;  Stuetz, Adrian M.;  Bentley, David R.;  Barnes, Bret;  Cheetham, R. Keira;  Eberle, Michael;  Humphray, Sean;  Kahn, Scott;  Murray, Lisa;  Shaw, Richard;  Ye, Kai;  Batzer, Mark A.;  Konkel, Miriam K.;  Walker, Jerilyn A.;  Lacroute, Phil;  Craig, David W.;  Homer, Nils;  Church, Deanna;  Xiao, Chunlin;  Sebat, Jonathan;  Bafna, Vineet;  Michaelson, Jacob J.;  Ye, Kenny;  Devine, Scott E.;  Liu, Xinyue;  Maroo, Ankit;  Tallon, Luke J.;  Lunter, Gerton;  McVean, Gil A.;  Iqbal, Zamin;  Witherspoon, David;  Xing, Jinchuan;  Eichler, Evan E.;  Alkan, Can;  Hajirasouliha, Iman;  Hormozdiari, Fereydoun;  Ko, Arthur;  Sudmant, Peter H.;  Chen, Ken;  Chinwalla, Asif;  Ding, Li;  McLellan, Michael D.;  Wallis, John W.;  Hurles, Matthew E.;  Ben Blackburne;  Li, Heng;  Lindsay, Sarah J.;  Ning, Zemin;  Scally, Aylwyn;  Walter, Klaudia;  Zhang, Yujun;  Gerstein, Mark B.;  Abyzov, Alexej;  Chen, Jieming;  Clarke, Declan;  Khurana, Ekta;  Mu, Xinmeng Jasmine;  Sisu, Cristina;  Gibbs, Richard A.;  Yu, Fuli;  Bainbridge, Matthew;  Challis, Danny;  Evani, Uday S.;  Kovar, Christie;  Lewis, Lora;  Lu, James;  Muzny, Donna;  Nagaswamy, Uma;  Reid, Jeff;  Sabo, Aniko;  Yu, Jin;  Guo, Xiaosen;  Li, Yingrui;  Wu, Renhua;  Marth, Gabor T.;  Garrison, Erik P.;  Leong, Wen Fung;  Ward, Alistair N.;  del Angel, Guillermo;  DePristo, Mark A.;  Gabriel, Stacey B.;  Gupta, Namrata;  Hartl, Chris;  Poplin, Ryan E.;  Clark, Andrew G.;  Rodriguez-Flores, Juan L.;  Flicek, Paul;  Clarke, Laura;  Smith, Richard E.;  Zheng-Bradley, Xiangqun;  MacArthur, Daniel G.;  Bustamante, Carlos D.;  Gravel, Simon;  Craig, David W.;  Christoforides, Alexis;  Homer, Nils;  Izatt, Tyler;  Sherry, Stephen T.;  Xiao, Chunlin;  Dermitzakis, Emmanouil T.;  Abecasis, Goncalo R.;  Kang, Hyun Min;  McVean, Gil A.;  Mardis, Elaine R.;  Dooling, David;  Fulton, Lucinda;  Fulton, Robert;  Koboldt, Daniel C.;  Durbin, Richard M.;  Balasubramaniam, Senduran;  Keane, Thomas M.;  McCarthy, Shane;  Stalker, James;  Gerstein, Mark B.;  Balasubramanian, Suganthi;  Habegger, Lukas;  Garrison, Erik P.;  Gibbs, Richard A.;  Bainbridge, Matthew;  Muzny, Donna;  Yu, Fuli;  Yu, Jin;  del Angel, Guillermo;  Handsaker, Robert E.;  Makarov, Vladimir;  Rodriguez-Flores, Juan L.;  Jin, Hanjun;  Kim, Wook;  Kim, Ki Cheol;  Flicek, Paul;  Beal, Kathryn;  Clarke, Laura;  Cunningham, Fiona;  Herrero, Javier;  McLaren, William M.;  Ritchie, Graham R. S.;  Zheng-Bradley, Xiangqun;  Tabrizi, Shervin;  MacArthur, Daniel G.;  Lek, Monkol;  Bustamante, Carlos D.;  De la Vega, Francisco M.;  Craig, David W.;  Kurdoglu, Ahmet A.;  Lappalainen, Tuuli;  Rosenfeld, Jeffrey A.;  Michelson, Leslie P.;  Awadalla, Philip;  Hodgkinson, Alan;  McVean, Gil A.;  Chen, Ken;  Tyler-Smith, Chris;  Chen, Yuan;  Colonna, Vincenza;  Frankish, Adam;  Harrow, Jennifer;  Xue, Yali;  Gerstein, Mark B.;  Abyzov, Alexej;  Balasubramanian, Suganthi;  Chen, Jieming;  Clarke, Declan;  Fu, Yao;  Harmanci, Arif O.;  Jin, Mike;  Khurana, Ekta;  Mu, Xinmeng Jasmine;  Sisu, Cristina;  Gibbs, Richard A.;  Fowler, Gerald;  Hale, Walker;  Kalra, Divya;  Kovar, Christie;  Muzny, Donna;  Reid, Jeff;  Wang, Jun;  Guo, Xiaosen;  Li, Guoqing;  Li, Yingrui;  Zheng, Xiaole;  Altshuler, David M.;  Flicek, Paul;  Clarke, Laura;  Barker, Jonathan;  Kelman, Gavin;  Kulesha, Eugene;  Leinonen, Rasko;  McLaren, William M.;  Radhakrishnan, Rajesh;  Roa, Asier;  Smirnov, Dmitriy;  Smith, Richard E.;  Streeter, Ian;  Toneva, Iliana;  Vaughan, Brendan;  Zheng-Bradley, Xiangqun;  Bentley, David R.;  Cox, Tony;  Humphray, Sean;  Kahn, Scott;  Sudbrak, Ralf;  Albrecht, Marcus W.;  Lienhard, Matthias;  Craig, David W.;  Izatt, Tyler;  Kurdoglu, Ahmet A.;  Sherry, Stephen T.;  Ananiev, Victor;  Belaia, Zinaida;  Beloslyudtsev, Dimitriy;  Bouk, Nathan;  Chen, Chao;  Church, Deanna;  Cohen, Robert;  Cook, Charles;  Garner, John;  Hefferon, Timothy;  Kimelman, Mikhail;  Liu, Chunlei;  Lopez, John;  Meric, Peter;  O′  Sullivan, Chris;  Ostapchuk, Yuri;  Phan, Lon;  Ponomarov, Sergiy;  Schneider, Valerie;  Shekhtman, Eugene;  Sirotkin, Karl;  Slotta, Douglas;  Xiao, Chunlin;  Zhang, Hua;  Haussler, David;  Abecasis, Goncalo R.;  McVean, Gil A.;  Alkan, Can;  Ko, Arthur;  Dooling, David;  Durbin, Richard M.;  Balasubramaniam, Senduran;  Keane, Thomas M.;  McCarthy, Shane;  Stalker, James;  Chakravarti, Aravinda;  Knoppers, Bartha M.;  Abecasis, Goncalo R.;  Barnes, Kathleen C.;  Beiswanger, Christine;  Burchard, Esteban G.;  Bustamante, Carlos D.;  Cai, Hongyu;  Cao, Hongzhi;  Durbin, Richard M.;  Gharani, Neda;  Gibbs, Richard A.;  Gignoux, Christopher R.;  Gravel, Simon;  Henn, Brenna;  Jones, Danielle;  Jorde, Lynn;  Kaye, Jane S.;  Keinan, Alon;  Kent, Alastair;  Kerasidou, Angeliki;  Li, Yingrui;  Mathias, Rasika;  McVean, Gil A.;  Moreno-Estrada, Andres;  Ossorio, Pilar N.;  Parker, Michael;  Reich, David;  Rotimi, Charles N.;  Royal, Charmaine D.;  Sandoval, Karla;  Su, Yeyang;  Sudbrak, Ralf;  Tian, Zhongming;  Timmermann, Bernd;  Tishkoff, Sarah;  Toji, Lorraine H.;  Tyler-Smith, Chris;  Via, Marc;  Wang, Yuhong;  Yang, Huanming;  Yang, Ling;  Zhu, Jiayong;  Bodmer, Walter;  Bedoya, Gabriel;  Ruiz-Linares, Andres;  Ming, Cai Zhi;  Yang, Gao;  You, Chu Jia;  Peltonen, Leena;  Garcia-Montero, Andres;  Orfao, Alberto;  Dutil, Julie;  Martinez-Cruzado, Juan C.;  Oleksyk, Taras K.;  Brooks, Lisa D.;  Felsenfeld, Adam L.;  McEwen, Jean E.;  Clemm, Nicholas C.;  Duncanson, Audrey;  Dunn, Michael;  Green, Eric D.;  Guyer, Mark S.;  Peterson, Jane L.;  Abecasis, Goncalo R.;  Auton, Adam;  Brooks, Lisa D.;  DePristo, Mark A.;  Durbin, Richard M.;  Handsaker, Robert E.;  Kang, Hyun Min;  Marth, Gabor T.;  McVean, Gil A.;  1000 Genomes Project Consortium
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