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学科主题: 临床医学
题名:
A global reference for human genetic variation
作者: Altshuler, David M.3; Durbin, Richard M.4; Abecasis, Goncalo R.2; Bentley, David R.5; Chakravarti, Aravinda6; Clark, Andrew G.7; Donnelly, Peter8,9; Eichler, Evan E.10,11; Flicek, Paul12; Gabriel, Stacey B.13; Gibbs, Richard A.14; Green, Eric D.15; Hurles, Matthew E.4; Knoppers, Bartha M.16; Korbel, Jan O.12; Lander, Eric S.13; Lee, Charles18,19; Lehrach, Hans20,21; Mardis, Elaine R.22; Marth, Gabor T.23,24; McVean, Gil A.8,9; Nickerson, Deborah A.10; Schmidt, Jeanette P.25; Sherry, Stephen T.26; Wang, Jun27; Wilson, Richard K.22; Gibbs, Richard A.; Boerwinkle, Eric14; Doddapaneni, Harsha14; Han, Yi14; Korchina, Viktoriya14; Kovar, Christie14; Lee, Sandra14; Muzny, Donna14; Reid, Jeffrey G.14; Zhu, Yiming14; Wang, Jun; Chang, Yuqi27; Feng, Qiang27,28; Fang, Xiaodong27,28; Guo, Xiaosen27; Jian, Min27,28; Jiang, Hui27,28; Jin, Xin27; Lan, Tianming27; Li, Guoqing27; Li, Jingxiang27; Li, Yingrui27; Liu, Shengmao27; Liu, Xiao27,28; Lu, Yao27; Ma, Xuedi27; Tang, Meifang27; Wang, Bo27; Wang, Guangbiao27; Wu, Honglong27; Wu, Renhua27; Xu, Xun27; Yin, Ye27; Zhang, Dandan27; Zhang, Wenwei27; Zhao, Jiao27; Zhao, Meiru27; Zheng, Xiaole27; Lander, Eric S.; Altshuler, David M.; Gabriel, Stacey B.; Gupta, Namrata13; Gharani, Neda33; Toji, Lorraine H.33; Gerry, Norman P.33; Resch, Alissa M.33; Flicek, Paul; Barker, Jonathan12; Clarke, Laura12; Gil, Laurent12; Hunt, Sarah E.12; Kelman, Gavin12; Kulesha, Eugene12; Leinonen, Rasko12; McLaren, William M.12; Radhakrishnan, Rajesh12; Roa, Asier12; Smirnov, Dmitriy12; Smith, Richard E.12; Streeter, Ian12; Thormann, Anja12; Toneva, Iliana12; Vaughan, Brendan12; Zheng-Bradley, Xiangqun12; Bentley, David R.; Grocock, Russell5; Humphray, Sean5; James, Terena5; Kingsbury, Zoya5; Lehrach, Hans; Sudbrak, Ralf34; Albrecht, Marcus W.35; Amstislavskiy, Vyacheslav S.20; Borodina, Tatiana A.35; Lienhard, Matthias20; Mertes, Florian20; Sultan, Marc20; Timmermann, Bernd20; Yaspo, Marie-Laure20; Mardis, Elaine R.22; Wilson, Richard K.; Fulton, Lucinda22; Fulton, Robert22; Sherry, Stephen T.; Ananiev, Victor26; Belaia, Zinaida26; Beloslyudtsev, Dimitriy26; Bouk, Nathan26; Chen, Chao26; Church, Deanna36; Cohen, Robert26; Cook, Charles26; Garner, John26; Hefferon, Timothy26; Kimelman, Mikhail26; Liu, Chunlei26; Lopez, John26; Meric, Peter26; O′ Sullivan, Chris37; Ostapchuk, Yuri26; Phan, Lon26; Ponomarov, Sergiy26; Schneider, Valerie26; Shekhtman, Eugene26; Sirotkin, Karl26; Slotta, Douglas26; Zhang, Hua26; McVean, Gil A.8; Durbin, Richard M.; Balasubramaniam, Senduran4; Burton, John4; Danecek, Petr4; Keane, Thomas M.4; Kolb-Kokocinski, Anja4; McCarthy, Shane4; Stalker, James4; Quail, Michael4; Schmidt, Jeanette P.; Davies, Christopher J.25; Gollub, Jeremy25; Webster, Teresa25; Wong, Brant25; Zhan, Yiping25; Auton, Adam1; Campbell, Christopher L.1; Kong, Yu1; Marcketta, Anthony1; Gibbs, Richard A.; Yu, Fuli14; Antunes, Lilian14; Bainbridge, Matthew14; Muzny, Donna; Sabo, Aniko14; Huang, Zhuoyi14; Wang, Jun; Coin, Lachlan J. M.27; Fang, Lin27,28; Guo, Xiaosen27; Jin, Xin; Li, Guoqing; Li, Qibin27; Li, Yingrui; Li, Zhenyu27; Lin, Haoxiang27; Liu, Binghang27; Luo, Ruibang27; Shao, Haojing27; Xie, Yinlong27; Ye, Chen27; Yu, Chang27; Zhang, Fan27; Zheng, Hancheng27; Zhu, Hongmei27; Alkan, Can38; Dal, Elif38; Kahveci, Fatma38; Marth, Gabor T.; Garrison, Erik P.4; Kural, Deniz39; Lee, Wan-Ping39; Leong, Wen Fung40; Stromberg, Michael41; Ward, Alistair N.23,24; Wu, Jiantao41; Zhang, Mengyao42; Daly, Mark J.13; DePristo, Mark A.43; Handsaker, Robert E.13,42; Altshuler, David M.; Banks, Eric13; Bhatia, Gaurav13; del Angel, Guillermo13; Gabriel, Stacey B.; Genovese, Giulio13; Gupta, Namrata; Li, Heng13; Kashin, Seva13; Lander, Eric S.; McCarroll, Steven A.13,42; Nemesh, James C.13; Poplin, Ryan E.13; Yoon, Seungtai C.44; Lihm, Jayon44; Makarov, Vladimir45,46; Clark, Andrew G.7; Gottipati, Srikanth47; Keinan, Alon7; Rodriguez-Flores, Juan L.48; Korbel, Jan O.; Rausch, Tobias17,49; Fritz, Markus H.49; Stuetz, Adrian M.17; Flicek, Paul; Beal, Kathryn12; Clarke, Laura; Datta, Avik12; Herrero, Javier50; McLaren, William M.; Ritchie, Graham R. S.12; Smith, Richard E.; Zerbino, Daniel12; Zheng-Bradley, Xiangqun; Sabeti, Pardis C.13; Shlyakhter, Ilya13,51,52; Schaffner, Stephen F.13,51,52; Vitti, Joseph13,53; Cooper, David N.54; Ball, Edward V.54; Stenson, Peter D.54; Bentley, David R.; Barnes, Bret41; Bauer, Markus5; Cheetham, R. Keira5; Cox, Anthony5; Eberle, Michael5; Humphray, Sean; Kahn, Scott41; Murray, Lisa5; Peden, John5; Shaw, Richard5; Kenny, Eimear E.55; Batzer, Mark A.56; Konkel, Miriam K.56; Walker, Jerilyn A.56; MacArthur, Daniel G.57; Lek, Monkol57; Sudbrak, Ralf; Amstislavskiy, Vyacheslav S.; Herwig, Ralf20; Mardis, Elaine R.; Ding, Li22; Koboldt, Daniel C.22; Larson, David22; Ye, Kai22; Gravel, Simon58,59; Swaroop, Anand60; Chew, Emily60; Lappalainen, Tuuli61,62; Erlich, Yaniv61,63; Gymrek, Melissa13; Willems, Thomas Frederick67; Simpson, Jared T.68; Shriver, Mark D.69; Rosenfeld, Jeffrey A.70; Bustamante, Carlos D.; Montgomery, Stephen B.71,72; De La Vega, Francisco M.; Byrnes, Jake K.73; Carroll, Andrew W.74; DeGorter, Marianne K.71,72; Lacroute, Phil; Maples, Brian K.; Martin, Alicia R.; Moreno-Estrada, Andres27,75; Shringarpure, Suyash S.; Zakharia, Fouad; Halperin, Eran76,77,78; Baran, Yael76; Lee, Charles; Cerveira, Eliza18; Hwang, Jaeho18; Malhotra, Ankit18; Plewczynski, Dariusz18; Radew, Kamen18; Romanovitch, Mallory18; Zhang, Chengsheng18; Hyland, Fiona C. L.79; Craig, David W.80; Christoforides, Alexis80; Homer, Nils81; Izatt, Tyler80; Kurdoglu, Ahmet A.80; Sinari, Shripad A.80; Squire, Kevin82; Sherry, Stephen T.; Xiao, Chunlin26; Sebat, Jonathan83,84; Antaki, Danny83; Gujral, Madhusudan83; Noor, Amina83; Ye, Kenny85; Burchard, Esteban G.86,87; Hernandez, Ryan D.86,87,88,89; Gignoux, Christopher R.86; Haussler, David90,91; Katzman, Sol J.90; Kent, W. James90; Howie, Bryan92; Ruiz-Linares, Andres93; Dermitzakis, Emmanouil T.94,95,96; Devine, Scott E.97; Goncalo, R. Abecasis2; Kang, Hyun Min2; Kidd, Jeffrey M.98; Blackwell, Tom2; Caron, Sean2; Chen, Wei100; Emery, Sarah99; Fritsche, Lars2; Fuchsberger, Christian2; Jun, Goo2,101; Li, Bingshan102; Lyons, Robert103; Scheller, Chris2; Sidore, Carlo2,104,105; Song, Shiya98; Sliwerska, Elzbieta99; Taliun, Daniel2; Tan, Adrian2; Welch, Ryan2; Wing, Mary Kate2; Zhan, Xiaowei106; Awadalla, Philip68,107; Hodgkinson, Alan107; Li, Yun108; Shi, Xinghua109; Quitadamo, Andrew109; Lunter, Gerton8; McVean, Gil A.; Marchini, Jonathan L.8,9; Myers, Simon8,9; Churchhouse, Claire9; Delaneau, Olivier9,94; Gupta-Hinch, Anjali8; Kretzschmar, Warren8; Iqbal, Zamin8; Mathieson, Iain8; Menelaou, Androniki9,110; Rimmer, Andy94; Xifara, Dionysia K.8,9; Oleksyk, Taras K.111; Fu, Yunxin101; Liu, Xiaoming101; Xiong, Momiao101; Jorde, Lynn112; Witherspoon, David112; Xing, Jinchuan113; Eichler, Evan E.; Browning, Brian L.114; Browning, Sharon R.115; Hormozdiari, Fereydoun10; Sudmant, Peter H.10; Khurana, Ekta116; Durbin, Richard M.; Hurles, Matthew E.; Tyler-Smith, Chris4; Albers, Cornelis A.117,118,119; Ayub, Qasim4; Balasubramaniam, Senduran; Chen, Yuan4; Colonna, Vincenza4,120; Danecek, Petr; Jostins, Luke8; Keane, Thomas M.; McCarthy, Shane; Walter, Klaudia4; Xue, Yali4; Gerstein, Mark B.121; Abyzov, Alexej124; Balasubramanian, Suganthi123; Chen, Jieming121; Clarke, Declan125; Fu, Yao121; Harmanci, Arif O.121; Jin, Mike123; Lee, Donghoon121; Liu, Jeremy123; Mu, Xinmeng Jasmine13,121; Zhang, Jing121,123; Zhang, Yan121; Li, Yingrui; Luo, Ruibang; Zhu, Hongmei; Alkan, Can; Dal, Elif; Kahveci, Fatma; Marth, Gabor T.; Garrison, Erik P.4; Kural, Deniz; Lee, Wan-Ping; Ward, Alistair N.; Wu, Jiantao23,24; Zhang, Mengyao23,24; McCarroll, Steven A.; Handsaker, Robert E.; Altshuler, David M.; Banks, Eric; Del Angel, Guillermo; Genovese, Giulio; Hartl, Chris13; Li, Heng; Kashin, Seva; Nemesh, James C.; Shakir, Khalid13; Yoon, Seungtai C.; Lihm, Jayon; Makarov, Vladimir; Degenhardt, Jeremiah7; Korbel, Jan O.; Fritz, Markus H.; Meiers, Sascha17; Raeder, Benjamin17; Rausch, Tobias; Stuetz, Adrian M.; Flicek, Paul; Casale, Francesco Paolo12; Clarke, Laura; Smith, Richard E.; Stegle, Oliver12; Zheng-Bradley, Xiangqun; Bentley, David R.; Barnes, Bret; Cheetham, R. Keira; Eberle, Michael; Humphray, Sean; Kahn, Scott; Murray, Lisa; Shaw, Richard; Lameijer, Eric-Wubbo126; Batzer, Mark A.; Konkel, Miriam K.; Walker, Jerilyn A.; Ding, Li; Hall, Ira22; Ye, Kai; Lacroute, Phil; Lee, Charles; Cerveira, Eliza; Malhotra, Ankit; Hwang, Jaeho; Plewczynski, Dariusz; Radew, Kamen; Romanovitch, Mallory; Zhang, Chengsheng; Craig, David W.; Homer, Nils; Church, Deanna; Xiao, Chunlin; Sebat, Jonathan83; Antaki, Danny; Bafna, Vineet127; Michaelson, Jacob128; Ye, Kenny; Devine, Scott E.; Gardner, Eugene J.97; Abecasis, Goncalo R.; Kidd, Jeffrey M.; Mills, Ryan E.98,99; Dayama, Gargi98,99; Emery, Sarah; Jun, Goo2,101; Shi, Xinghua; Quitadamo, Andrew; Lunter, Gerton; McVean, Gil A.; Chen, Ken129; Fan, Xian129; Chong, Zechen129; Chen, Tenghui129; Witherspoon, David; Xing, Jinchuan; Eichler, Evan E.; Chaisson, Mark J.10; Hormozdiari, Fereydoun; Huddleston, John10,11; Malig, Maika10; Nelson, Bradley J.10; Sudmant, Peter H.; Parrish, Nicholas F.102; Khurana, Ekta; Hurles, Matthew E.; Blackburne, Ben4; Lindsay, Sarah J.4; Ning, Zemin4; Walter, Klaudia; Zhang, Yujun4; Gerstein, Mark B.; Abyzov, Alexej; Chen, Jieming; Clarke, Declan; Lam, Hugo130; Mu, Xinmeng Jasmine; Sisu, Cristina121; Zhang, Jing; Zhang, Yan; Gibbs, Richard A.; Yu, Fuli; Bainbridge, Matthew; Challis, Danny14; Evani, Uday S.14; Kovar, Christie; Lu, James14; Muzny, Donna; Nagaswamy, Uma14; Reid, Jeffrey G.; Sabo, Aniko; Yu, Jin14; Guo, Xiaosen; Li, Wangshen27; Li, Yingrui; Wu, Renhua; Marth, Gabor T.; Garrison, Erik P.; Leong, Wen Fung23,24; Ward, Alistair N.; del Angel, Guillermo; DePristo, Mark A.; Gabriel, Stacey B.; Gupta, Namrata; Hartl, Chris; Poplin, Ryan E.13; Clark, Andrew G.; Rodriguez-Flores, Juan L.; Flicek, Paul; Clarke, Laura; Smith, Richard E.; Zheng-Bradley, Xiangqun; MacArthur, Daniel G.; Mardis, Elaine R.; Fulton, Robert; Koboldt, Daniel C.; Gravel, Simon; Bustamante, Carlos D.; Craig, David W.; Christoforides, Alexis; Homer, Nils; Izatt, Tyler; Sherry, Stephen T.; Xiao, Chunlin; Dermitzakis, Emmanouil T.; Abecasis, Gonalo R.2; Kang, Hyun Min; McVean, Gil A.; Gerstein, Mark B.; Balasubramanian, Suganthi; Habegger, Lukas121; Yu, Haiyuan47; Flicek, Paul; Clarke, Laura; Cunningham, Fiona12; Dunham, Ian12; Zerbino, Daniel; Zheng-Bradley, Xiangqun; Lage, Kasper13,131; Jespersen, Jakob Berg13,131,132; Horn, Heiko13,131; Montgomery, Stephen B.; DeGorter, Marianne K.; Khurana, Ekta; Tyler-Smith, Chris; Chen, Yuan; Colonna, Vincenza; Xue, Yali; Gerstein, Mark B.; Balasubramanian, Suganthi; Fu, Yao; Kim, Donghoon123; Auton, Adam1; Marcketta, Anthony1; Desalle, Rob133; Narechania, Apurva134; Sayres, Melissa A. Wilson135; Garrison, Erik P.; Handsaker, Robert E.; Kashin, Seva; McCarroll, Steven A.; Rodriguez-Flores, Juan L.; Flicek, Paul; Clarke, Laura; Zheng-Bradley, Xiangqun; Erlich, Yaniv; Gymrek, Melissa; Willems, Thomas Frederick; Bustamante, Carlos D.; Mendez, Fernando L.; Poznik, G. David136; Underhill, Peter A.; Lee, Charles; Cerveira, Eliza; Malhotra, Ankit; Romanovitch, Mallory; Zhang, Chengsheng; Abecasis, Goncalo R.; Coin, Lachlan137; Shao, Haojing137; Mittelman, David138; Tyler-Smith, Chris; Ayub, Qasim; Banerjee, Ruby4; Cerezo, Maria4; Chen, Yuan; Fitzgerald, ThomasW.4; Louzada, Sandra4; Massaia, Andrea4; McCarthy, Shane; Ritchie, Graham R.4; Xue, Yali; Yang, Fengtang4; Gibbs, Richard A.; Kovar, Christie; Kalra, Divya14; Hale, Walker14; Muzny, Donna; Reid, Jeffrey G.; Wang, Jun; Dan, Xu27; Guo, Xiaosen; Li, Guoqing; Li, Yingrui; Ye, Chen; Zheng, Xiaole; Altshuler, David M.; Flicek, Paul; Clarke, Laura; Zheng-Bradley, Xiangqun; Bentley, David R.; Cox, Anthony; Humphray, Sean; Kahn, Scott; Sudbrak, Ralf; Albrecht, Marcus W.; Lienhard, Matthias; Larson, David; Craig, David W.; Izatt, Tyler; Kurdoglu, Ahmet A.; Sherry, Stephen T.; Xiao, Chunlin; Haussler, David; Abecasis, Goncalo R.; McVean, Gil A.; Durbin, Richard M.; Balasubramaniam, Senduran; Keane, Thomas M.; McCarthy, Shane; Stalker, James; Chakravarti, Aravinda; Knoppers, Bartha M.; Abecasis, Goncalo R.; Barnes, Kathleen C.139; Beiswanger, Christine33; Burchard, Esteban G.; Bustamante, Carlos D.; Cai, Hongyu27; Cao, Hongzhi27,28; Durbin, Richard M.; Gerry, Norman P.; Gharani, Neda; Gibbs, Richard A.; Gignoux, Christopher R.; Gravel, Simon; Henn, Brenna140; Jones, Danielle47; Jorde, Lynn; Kaye, Jane S.141; Keinan, Alon; Kent, Alastair142; Kerasidou, Angeliki143; Li, Yingrui; Mathias, Rasika144; McVean, Gil A.; Moreno-Estrada, Andres; Ossorio, Pilar N.145,146; Parker, Michael143; Resch, Alissa M.; Rotimi, Charles N.147; Royal, Charmaine D.148; Sandoval, Karla; Su, Yeyang27; Sudbrak, Ralf; Tian, Zhongming27; Tishkoff, Sarah149; Toji, Lorraine H.; Tyler-Smith, Chris; Via, Marc150,151; Wang, Yuhong27; Yang, Huanming27; Yang, Ling27; Zhu, Jiayong27; Bodmer, Walter152; Bedoya, Gabriel153; Ruiz-Linares, Andres; Cai, Zhiming27; Gao, Yang154; Chu, Jiayou155,156; Peltonen, Leena; Garcia-Montero, Andres157,158; Orfao, Alberto157,158; Dutil, Julie159; Martinez-Cruzado, Juan C.111; Oleksyk, Taras K.; Barnes, Kathleen C.; Mathias, Rasika A.144; Hennis, Anselm160,161; Watson, Harold161; McKenzie, Colin162; Qadri, Firdausi163; LaRocque, Regina163; Sabeti, Pardis C.; Zhu, Jiayong; Deng, Xiaoyan164; Sabeti, Pardis C.; Asogun, Danny165; Folarin, Onikepe166; Happi, Christian166,167; Omoniwa, Omonwunmi166,167; Stremlau, Matt13,51,52; Tariyal, Ridhi13,51,52; Jallow, Muminatou8,168; Joof, Fatoumatta Sisay8,168; Corrah, Tumani8,168; Rockett, Kirk8,168; Kwiatkowski, Dominic8,168; Kooner, Jaspal169; Tran Tinh Hien170; Dunstan, Sarah J.170,171; Nguyen Thuy Hang170; Fonnie, Richard172; Garry, Robert173; Kanneh, Lansana172; Moses, Lina173; Sabeti, Pardis C.; Schieffelin, John173; Grant, Donald S.172,173; Gallo, Carla174; Poletti, Giovanni174; Saleheen, Danish175,176; Rasheed, Asif175; Brook, Lisa D.177; Felsenfeld, Adaml.177; McEwen, Jean E.177; Vaydylevich, Yekaterina177; Green, Eric D.15; Duncanson, Audrey178; Dunn, Michael178; Schloss, Jeffery A.177; Wang, Jun; Yang, Huanming27,179; Auton, Adam1; Brooks, Lisa D.177; Durbin, Richard M.; Garrison, Erik P.; Kang, Hyun Min; Korbel, Jan O.; Marchini, Jonathan L.; McCarthy, Shane; McVean, Gil A.; Abecasis, Goncalo R.; Genomes Project Consortium
刊名: NATURE
发表日期: 2015-10-01
DOI: 10.1038/nature15393
卷: 526, 期:7571, 页:68-+
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: GENOME-WIDE ASSOCIATION ; COMPLEMENT FACTOR-H ; MACULAR DEGENERATION ; POPULATION HISTORY ; BAYES FACTORS ; MUTATION ; DISEASE ; VARIANT ; SUSCEPTIBILITY ; INDIVIDUALS
英文摘要:

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.

语种: 英语
所属项目编号: 090532/Z/09/Z ; 095552/Z/11/Z ; WT098051 ; WT095908 ; WT109497 ; WT086084/Z/08/Z ; WT100956/Z/13/Z ; WT097307 ; WT0855322/Z/08/Z ; WT090770/Z/09/Z ; 089276/Z.09/Z ; G0801823 ; BB/I02593X/1 ; BB/I021213/1 ; 617306 ; 2012AA02A201 ; 2011CB809201 ; 2011CB809202 ; 2011CB809203 ; 31161130357 ; ZYC201105170397A ; 136855 ; PSR-SIIRI-195 ; 0315428A ; 01GS08201 ; 0316190A ; KO4037/1-1 ; 2006 BP-A 10144 ; 2009 BP-B 00274 ; PRB2 IPT13/0001-ISCIII-SGEFI/FEDER ; PE13075 ; 303772 ; 31003A_130342 ; R170-2014-1039 ; 2014-DN-BX-K089 ; DGE-1147470 ; SF51 ; U54HG3067 ; U54HG3273 ; U01HG5211 ; U54HG3079 ; R01HG2898 ; R01HG2385 ; RC2HG5552 ; U01HG6513 ; U01HG5214 ; U01HG5715 ; U01HG5718 ; U01HG5728 ; U41HG7635 ; U41HG7497 ; R01HG4960 ; R01HG5701 ; R01HG5214 ; R01HG6855 ; R01HG7068 ; R01HG7644 ; DP2OD6514 ; DP5OD9154 ; R01CA166661 ; R01CA172652 ; P01GM99568 ; R01GM59290 ; R01GM104390 ; T32GM7790 ; R01HL87699 ; R01HL104608 ; T32HL94284 ; HHSN268201100040C ; HHSN272201000025C
项目资助者: Wellcome Trust ; Medical Research Council UK ; UK Biotechnology and Biological Sciences Research Council ; British Heart Foundation ; Monument Trust ; European Molecular Biology Laboratory ; European Research Council ; Chinese 863 Program ; National Basic Research program of China 973 program ; Natural Science Foundation of China ; Shenzhen Municipal Government of China ; Canadian Institutes of Health Research ; Canada Research Chair ; Le Fonds de Recherche du Quebec-Sante (FRQS) ; Genome Quebec ; Ontario Ministry of Research and Innovation - Ontario Institute for Cancer Research Investigator Award ; Quebec Ministry of Economic Development, Innovation, and Exports ; German Federal Ministry of Education and Research (BMBF) ; Max Planck Society ; BMBF-EPITREAT ; German Research Foundation (Deutsche Forschungsgemeinschaft) ; Beatriu de Pinos Program ; Spanish National Institute for Health Research ; Ewha Womans University ; Japan Society for the Promotion of Science ; Louis Jeantet Foundation ; Marie Curie Actions Career Integration grant ; Swiss National Science Foundation ; NCCR "Frontiers in Genetics" ; University of Geneva ; US National Institutes of Health National Center for Biotechnology Information ; Harvard Medical School Eleanor and Miles Shore Fellowship ; Lundbeck Foundation ; NIJ ; Mary Beryl Patch Turnbull Scholar Program ; NSF Graduate Research Fellowship ; Simons Foundation SFARI ; Sloan Foundation
WOS记录号: WOS:000362095100036
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62940
Appears in Collections:北京大学深圳医院_期刊论文

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作者单位: 1.Gen Hosp, Boston, MA 02114 USA
2.Harvard Univ, Sch Med, Boston, MA 02114 USA
3.Rutgers Canc Inst New Jersey, New Brunswick, NJ 08903 USA
4.Stanford Univ, Dept Genet, Stanford, CA 94305 USA
5.Stanford Univ, Dept Pathol, Stanford, CA 94305 USA
6.Ancestry Com, San Francisco, CA 94107 USA
7.DNAnexus, Mountain View, CA 94040 USA
8.Tel Aviv Univ, Dept Microbiol, IL-69978 Tel Aviv, Israel
9.Int Comp Sci Inst, Berkeley, CA 94704 USA
10.Ewha Womans Univ, Dept Life Sci, Seoul 120750, South Korea
11.Thermo Fisher Sci, San Francisco, CA 94080 USA
12.BGI Shenzhen, Shenzhen 518083, Peoples R China
13.Univ Copenhagen, Dept Biol, DK-2200 Copenhagen, Denmark
14.Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA
15.Yale Univ, Dept Chem, New Haven, CT 06520 USA
16.Max Planck Inst Mol Genet, D-14195 Berlin, Germany
17.Dahlem Ctr Genome Res & Med Syst Biol, D-14195 Berlin, Germany
18.Affymetrix, Santa Clara, CA 95051 USA
19.Translat Genom Res Inst, Phoenix, AZ 85004 USA
20.Life Technol, Beverly, MA 01915 USA
21.Howard Hughes Med Inst, Santa Cruz, CA 95064 USA
22.Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
23.Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA
24.Univ Michigan, Ctr Stat Genet, Biostat, Ann Arbor, MI 48109 USA
25.Vertex Pharmaceut, Boston, MA 02210 USA
26.Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
27.Illumina United Kingdom, Saffron Walden CB10 1XL, Essex, England
28.Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA
29.Univ Oxford, Dept Stat, Oxford OX1 3TG, England
30.McGill Univ, Ctr Genom & Policy, Montreal, PQ H3A 1A4, Canada
31.Jackson Lab Genom Med, Farmington, CT 06032 USA
32.Cornell Univ, Ctr Comparat & Populat Genom, Ithaca, NY 14850 USA
33.Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
34.Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA
35.Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA
36.European Bioinformat Inst, European Mol Biol Lab, Cambridge CB10 1SD, England
37.Broad Inst MIT & Harvard, Cambridge, MA 02142 USA
38.Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
39.NHGRI, US Natl Inst Hlth, Bethesda, MD 20892 USA
40.European Mol Biol Lab, Genome Biol Res Unit, Heidelberg, Germany
41.Washington Univ, Sch Med, McDonnell Genome Inst, St Louis, MO 63108 USA
42.Univ Utah, Sch Med, USTAR Ctr Genet Discovery, Salt Lake City, UT 84112 USA
43.Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84112 USA
44.US Natl Inst Hlth, Natl Ctr Biotechnol Informat, Bethesda, MD 20892 USA
45.King Abdulaziz Univ, Princess Jawhara Albrahim Ctr Excellence Res Here, Jeddah 80205, Saudi Arabia
46.Macau Univ Sci & Technol, Taipa 999078, Macau, Peoples R China
47.Univ Hong Kong, Dept Med, Hong Kong, Hong Kong, Peoples R China
48.Univ Hong Kong, State Key Lab Pharmaceut Biotechnol, Hong Kong, Hong Kong, Peoples R China
49.Coriell Inst Med Res, Camden, NJ 08103 USA
50.Maastricht Univ, UNU MERIT, European Ctr Publ Heath Genom, NL-6200 MD Maastricht, Netherlands
51.Alacris Theranost, D-14195 Berlin, Germany
52.Personalis, Menlo Pk, CA 94025 USA
53.NHGRI, US Natl Inst Hlth, Bethesda, MD 20892 USA
54.Bilkent Univ, Dept Comp Engn, TR-06800 Ankara, Turkey
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60.Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA
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65.Icahn Sch Med Mt Sinai, New York, NY 10029 USA
66.McGill Univ, Montreal, PQ H3A 0G1, Canada
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68.European Mol Biol Lab, Genom Core Facil, D-69117 Heidelberg, Germany
69.UCL, UCL Canc Inst, Bill Lyons Informat Ctr, London WC1E 6DD, England
70.Harvard Univ, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA
71.Harvard Univ, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA
72.Cardiff Univ, Sch Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
73.Louisiana State Univ, Dept Sci Biol, Baton Rouge, LA 70803 USA
74.Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
75.Genome Quebec Innovat Ctr, Montreal, PQ H3A 0G1, Canada
76.NEI, NIH, Bethesda, MD 20892 USA
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78.Columbia Univ, Dept Syst Biol, New York, NY 10032 USA
79.Columbia Univ, Fu Fdn Sch Engn, Dept Comp Sci, New York, NY USA
80.Harvard Mit Div Hlth Sci & Technol, Cambridge, MA 02139 USA
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83.Penn State Univ, Dept Anthropol, University Pk, PA 16802 USA
84.CINVESTAV, Lab Nacl Genom Biodiversidad LANGEBIO, Guanajuato 36821, Mexico
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86.Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90024 USA
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88.Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA
89.Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10461 USA
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91.Univ Calif San Francisco, Dept Therapeut Sci, San Francisco, CA 94158 USA
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94.Univ Calif Santa Cruz, Ctr Biomol Sci & Engn, Santa Cruz, CA 95064 USA
95.UCL, Dept Genet Evolut & Environm, London WC1E 6BT, England
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97.Univ Geneva, Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland
98.Swiss Inst Bioinformat, CH-1211 Geneva, Switzerland
99.Univ Maryland, Sch Med, Inst Genome Sci, Baltimore, MD 21201 USA
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101.Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA
102.Univ Pittsburgh, Dept Pediat, Pittsburgh, PA 15224 USA
103.Univ Texas Hlth Sci Ctr Houston, Houston, TX 77030 USA
104.Vanderbilt Univ, Sch Med, Nashville, TN 37232 USA
105.Univ Michigan, Sequencing Core, Ann Arbor, MI 48109 USA
106.CNR, Ist Ric Genet & Biomed, I-09042 Cagliari, Italy
107.Univ Sassari, Dipartimento Sci Biomed, I-07100 Sassari, Italy
108.Univ Texas SW Med Ctr Dallas, Dallas, TX 75390 USA
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110.Univ Chapel Hill, Dept Comp Sci, Dept Biostat, Dept Genet, Chapel Hill, NC 27599 USA
111.Rutgers State Univ, Dept Genet, Piscataway, NJ 08854 USA
112.CNR, Inst Genet & Biophys, I-80125 Naples, Italy
113.Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA
114.Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA
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116.Univ Med Ctr Utrecht, Ctr Mol Med, Dept Med Genet, Utrecht, Netherlands
117.Univ Puerto Rico, Dept Biol, Mayaguez, PR 00680 USA
118.Univ Utah, Sch Med, Eccles Inst Human Genet, Salt Lake City, UT 84112 USA
119.Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA
120.Univ Washington, Dept Biostat, Seattle, WA 98195 USA
121.Weill Cornell Med Coll, Dept Physiol & Biophys, New York, NY 10065 USA
122.Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
123.Radboud Univ Nijmegen, Med Ctr, Donders Ctr Neurosci, NL-6525 GA Nijmegen, Netherlands
124.Radboud Univ Nijmegen, Fac Sci, RIMLS, Dept Mol Dev Biol, NL-6500 HB Nijmegen, Netherlands
125.Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA
126.Leiden Univ, Med Ctr, Dept Med Stat & Bioinformat, Mol Epidemiol Sect, NL-2333 ZA Leiden, Netherlands
127.Univ Calif San Diego, Dept Comp Sci, La Jolla, CA 92093 USA
128.Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, La Jolla, CA 92093 USA
129.Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77230 USA
130.Roche Sequencing, Bina Technol, Redwood City, CA 94065 USA
131.Massachusetts Gen Hosp, Dept Surg, Boston, MA 02114 USA
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134.Amer Museum Nat Hist, Dept Invertebrate Zool, New York, NY 10024 USA
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136.Stanford Univ, Program Biomed Informat, Stanford, CA 94305 USA
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138.Virginia Bioinformat Inst, Blacksburg, VA 24061 USA
139.Johns Hopkins Univ, Sch Med, Div Allergy & Clin Immunol, Baltimore, MD 21205 USA
140.SUNY Stony Brook, Dept Ecol & Evolut, Stony Brook, NY 11794 USA
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142.Genet Alliance, London N1 3QP, England
143.Johns Hopkins Univ, Sch Med, Baltimore, MD 21205 USA
144.Univ Penn, Sch Med, Dept Genet, Philadelphia, PA 19104 USA
145.Univ Antioquia, Inst Biol, Lab Mol Genet, Medellin, Colombia
146.Peking Univ, Shenzhen Hosp, Shenzhen 518036, Peoples R China
147.Univ Oxford, Ethox Ctr, Nuffield Dept Populat Hlth, Oxford OX3 7LF, England
148.Univ Wisconsin, Morgridge Inst Res, Dept Med Hist & Bioeth, Madison, WI 53706 USA
149.Univ Wisconsin, Sch Law, Madison, WI 53706 USA
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151.Duke Univ, Dept African & African Amer Studies, Durham, NC 27708 USA
152.Univ Barcelona, Dept Psychiat & Clin Psychobiol, Barcelona 08035, Spain
153.Univ Barcelona, Inst Brain Cognit & Behav IR3C, Barcelona 08035, Spain
154.Univ Oxford, John Radcliffe Hosp, Canc & Immunogenet Lab, Oxford OX3 9DS, England
155.Chinese Acad Med Sci, Inst Med Biol, Kunming 650118, Peoples R China
156.Peking Union Med Coll, Kunming 650118, Peoples R China
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168.MRC Unit, Banjul, Gambia
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Recommended Citation:
Altshuler, David M.,Durbin, Richard M.,Abecasis, Goncalo R.,et al. A global reference for human genetic variation[J]. NATURE,2015,526(7571):68-+.
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