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学科主题: 临床医学
题名:
An integrated map of genetic variation from 1,092 human genomes
作者: Altshuler, David M.3; Durbin, Richard M.6; Abecasis, Goncalo R.7; Bentley, David R.8; Chakravarti, Aravinda9; Clark, Andrew G.10; Donnelly, Peter1,2; Eichler, Evan E.11,12; Flicek, Paul13; Gabriel, Stacey B.3; Gibbs, Richard A.14; Green, Eric D.; Hurles, Matthew E.6; Knoppers, Bartha M.15; Korbel, Jan O.16; Lander, Eric S.; Lee, Charles17; Lehrach, Hans19; Mardis, Elaine R.21; Marth, Gabor T.22; McVean, Gil A.1; Nickerson, Deborah A.23; Schmidt, Jeanette P.24; Sherry, Stephen T.25; Wang, Jun26; Wilson, Richard K.21; Gibbs, Richard A.; Dinh, Huyen14; Kovar, Christie14; Lee, Sandra14; Lewis, Lora14; Muzny, Donna14; Reid, Jeff14; Wang, Min14; Wang, Jun; Fang, Xiaodong26; Guo, Xiaosen26; Jian, Min26; Jiang, Hui26; Jin, Xin26; Li, Guoqing26; Li, Jingxiang26; Li, Yingrui26; Li, Zhuo26; Liu, Xiao26; Lu, Yao26; Ma, Xuedi26; Su, Zhe26; Tai, Shuaishuai26; Tang, Meifang26; Wang, Bo26; Wang, Guangbiao26; Wu, Honglong26; Wu, Renhua26; Yin, Ye26; Zhang, Wenwei26; Zhao, Jiao26; Zhao, Meiru26; Zheng, Xiaole26; Zhou, Yan26; Lander, Eric S.; Altshuler, David M.; Gabriel, Stacey B.; Gupta, Namrata3; Flicek, Paul; Clarke, Laura13; Leinonen, Rasko13; Smith, Richard E.13; Zheng-Bradley, Xiangqun13; Bentley, David R.; Grocock, Russell8; Humphray, Sean8; James, Terena8; Kingsbury, Zoya8; Lehrach, Hans; Sudbrak, Ralf19; Albrecht, Marcus W.29; Amstislavskiy, Vyacheslav S.19; Borodina, Tatiana A.29; Lienhard, Matthias19; Mertes, Florian19; Sultan, Marc19; Timmermann, Bernd19; Yaspo, Marie-Laure19; Sherry, Stephen T.; McVean, Gil A.; Mardis, Elaine R.; Wilson, Richard K.; Fulton, Lucinda21; Fulton, Robert21; Weinstock, George M.21; Durbin, Richard M.; Balasubramaniam, Senduran6; Burton, John6; Danecek, Petr6; Keane, Thomas M.6; Kolb-Kokocinski, Anja6; McCarthy, Shane6; Stalker, James6; Quail, Michael6; Schmidt, Jeanette P.; Davies, Christopher J.24; Gollub, Jeremy24; Webster, Teresa24; Wong, Brant24; Zhan, Yiping24; Auton, Adam30; Gibbs, Richard A.; Yu, Fuli14; Bainbridge, Matthew14; Challis, Danny14; Evani, Uday S.14; Lu, James14; Muzny, Donna; Nagaswamy, Uma14; Reid, Jeff; Sabo, Aniko14; Wang, Yi14; Yu, Jin14; Wang, Jun; Coin, Lachlan J. M.26; Fang, Lin26; Guo, Xiaosen; Jin, Xin; Li, Guoqing; Li, Qibin26; Li, Yingrui; Li, Zhenyu26; Lin, Haoxiang26; Liu, Binghang26; Luo, Ruibang26; Qin, Nan26; Shao, Haojing26; Wang, Bingqiang26; Xie, Yinlong26; Ye, Chen26; Yu, Chang26; Zhang, Fan26; Zheng, Hancheng26; Zhu, Hongmei26; Marth, Gabor T.; Garrison, Erik P.22; Kural, Deniz22; Lee, Wan-Ping22; Leong, Wen Fung22; Ward, Alistair N.22; Wu, Jiantao22; Zhang, Mengyao22; Lee, Charles; Griffin, Lauren17; Hsieh, Chih-Heng17; Mills, Ryan E.17; Shi, Xinghua17; von Grotthuss, Marcin17; Zhang, Chengsheng17; Daly, Mark J.3; DePristo, Mark A.3; Altshuler, David M.; Banks, Eric3; Bhatia, Gaurav3; Carneiro, Mauricio O.3; del Angel, Guillermo3; Gabriel, Stacey B.; Genovese, Giulio3; Gupta, Namrata; Handsaker, Robert E.3; Hartl, Chris3; Lander, Eric S.; McCarroll, Steven A.3; Nemesh, James C.3; Poplin, Ryan E.3; Schaffner, Stephen F.3; Shakir, Khalid3; Yoon, Seungtai C.32; Lihm, Jayon32; Makarov, Vladimir33; Jin, Hanjun35; Kim, Wook36; Kim, Ki Cheol36; Korbel, Jan O.; Rausch, Tobias16; Flicek, Paul; Beal, Kathryn13; Clarke, Laura; Cunningham, Fiona13; Herrero, Javier13; McLaren, William M.13; Ritchie, Graham R. S.13; Smith, Richard E.; Zheng-Bradley, Xiangqun; Clark, Andrew G.; Gottipati, Srikanth37; Keinan, Alon10; Rodriguez-Flores, Juan L.10; Sabeti, Pardis C.3,38,39; Grossman, Sharon R.3,38,39; Tabrizi, Shervin3; Tariyal, Ridhi3,38,39; Cooper, David N.40; Ball, Edward V.40; Stenson, Peter D.40; Bentley, David R.; Barnes, Bret41; Bauer, Markus8; Cheetham, R. Keira8; Cox, Tony8; Eberle, Michael8; Humphray, Sean; Kahn, Scott41; Murray, Lisa8; Peden, John8; Shaw, Richard8; Ye, Kai42; Batzer, Mark A.43; Konkel, Miriam K.43; Walker, Jerilyn A.43; MacArthur, Daniel G.44; Lek, Monkol44; Sudbrak, Ralf; Amstislavskiy, Vyacheslav S.; Herwig, Ralf19; Shriver, Mark D.45; Bustamante, Carlos D.46; Byrnes, Jake K.47; De la Vega, Francisco M.10; Gravel, Simon46; Kenny, Eimear E.46; Kidd, Jeffrey M.46; Lacroute, Phil46; Maples, Brian K.46; Moreno-Estrada, Andres46; Zakharia, Fouad46; Halperin, Eran48,49,50; Baran, Yael48; Craig, David W.51; Christoforides, Alexis51; Homer, Nils52; Izatt, Tyler51; Kurdoglu, Ahmet A.51; Sinari, Shripad A.51; Squire, Kevin53; Sherry, Stephen T.; Xiao, Chunlin25; Sebat, Jonathan54,55; Bafna, Vineet56; Ye, Kenny57; Burchard, Esteban G.58; Hernandez, Ryan D.58; Gignoux, Christopher R.58; Haussler, David59; Katzman, Sol J.59; Kent, W. James59; Howie, Bryan61; Ruiz-Linares, Andres62; Dermitzakis, Emmanouil T.63; Lappalainen, Tuuli63,64; Devine, Scott E.66; Liu, Xinyue66; Maroo, Ankit66; Tallon, Luke J.66; Rosenfeld, Jeffrey A.67; Michelson, Leslie P.67; Abecasis, Goncalo R.; Kang, Hyun Min7; Anderson, Paul7; Angius, Andrea69; Bigham, Abigail70; Blackwell, Tom7; Busonero, Fabio7,69; Cucca, Francesco69,71; Fuchsberger, Christian7; Jones, Chris72; Jun, Goo7; Li, Yun73; Lyons, Robert74; Maschio, Andrea7,69; Porcu, Eleonora7,69; Reinier, Fred72; Sanna, Serena69; Schlessinger, David75; Sidore, Carlo7,69; Tan, Adrian7; Trost, Mary Kate7; Awadalla, Philip76; Hodgkinson, Alan76; Lunter, Gerton1; McVean, Gil A.; Marchini, Jonathan L.1,2; Myers, Simon1,2; Churchhouse, Claire2; Delaneau, Olivier2; Gupta-Hinch, Anjali1; Iqbal, Zamin1; Mathieson, Iain1; Rimmer, Andy1; Xifara, Dionysia K.1,2; Oleksyk, Taras K.77; Fu, Yunxin78; Liu, Xiaoming78; Xiong, Momiao78; Jorde, Lynn79; Witherspoon, David79; Xing, Jinchuan80; Eichler, Evan E.; Browning, Brian L.81; Alkan, Can23; Hajirasouliha, Iman83; Hormozdiari, Fereydoun23; Ko, Arthur23; Sudmant, Peter H.23; Mardis, Elaine R.; Chen, Ken84; Chinwalla, Asif21; Ding, Li21; Dooling, David21; Koboldt, Daniel C.21; McLellan, Michael D.21; Wallis, John W.21; Wendl, Michael C.21; Zhang, Qunyuan21; Durbin, Richard M.; Hurles, Matthew E.; Tyler-Smith, Chris6; Albers, Cornelis A.85,86; Ayub, Qasim6; Balasubramaniam, Senduran; Chen, Yuan6; Coffey, Alison J.6; Colonna, Vincenza6; Danecek, Petr; Huang, Ni6; Jostins, Luke6; Keane, Thomas M.; Li, Heng3; McCarthy, Shane; Scally, Aylwyn6; Stalker, James; Walter, Klaudia6; Xue, Yali6; Zhang, Yujun6; Gerstein, Mark B.88,89; Abyzov, Alexej88; Balasubramanian, Suganthi90; Chen, Jieming88; Clarke, Declan91; Fu, Yao88; Habegger, Lukas88; Harmanci, Arif O.88; Jin, Mike90; Khurana, Ekta90; Mu, Xinmeng Jasmine88; Sisu, Cristina88; 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, Jeremiah10; Flicek, Paul; Clarke, Laura; Smith, Richard E.; Zheng-Bradley, Xiangqun; Korbel, Jan O.; Rausch, Tobias; Stuetz, Adrian M.16; 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, Deanna25; Xiao, Chunlin; Sebat, Jonathan; Bafna, Vineet; Michaelson, Jacob J.92; 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 Blackburne6; Li, Heng; Lindsay, Sarah J.6; Ning, Zemin6; 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.2,22; 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, Laura13; 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.67,68; Awadalla, Philip; Hodgkinson, Alan; McVean, Gil A.; Chen, Ken; Tyler-Smith, Chris; Chen, Yuan; Colonna, Vincenza; Frankish, Adam6; Harrow, Jennifer6; 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, Gerald14; Hale, Walker14; Kalra, Divya14; Kovar, Christie; Muzny, Donna; Reid, Jeff; Wang, Jun; Guo, Xiaosen; Li, Guoqing; Li, Yingrui; Zheng, Xiaole; Altshuler, David M.; Flicek, Paul; Clarke, Laura; Barker, Jonathan13; Kelman, Gavin13; Kulesha, Eugene13; Leinonen, Rasko13; McLaren, William M.; Radhakrishnan, Rajesh13; Roa, Asier13; Smirnov, Dmitriy13; Smith, Richard E.; Streeter, Ian13; Toneva, Iliana13; Vaughan, Brendan13; 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, Victor25; Belaia, Zinaida25; Beloslyudtsev, Dimitriy25; Bouk, Nathan25; Chen, Chao25; Church, Deanna; Cohen, Robert25; Cook, Charles25; Garner, John25; Hefferon, Timothy25; Kimelman, Mikhail25; Liu, Chunlei25; Lopez, John25; Meric, Peter25; O′ Sullivan, Chris; Ostapchuk, Yuri25; Phan, Lon25; Ponomarov, Sergiy25; Schneider, Valerie25; Shekhtman, Eugene25; Sirotkin, Karl25; Slotta, Douglas25; Xiao, Chunlin; Zhang, Hua25; 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.94; Beiswanger, Christine95; Burchard, Esteban G.; Bustamante, Carlos D.; Cai, Hongyu26; Cao, Hongzhi26; Durbin, Richard M.; Gharani, Neda95; Gibbs, Richard A.; Gignoux, Christopher R.; Gravel, Simon; Henn, Brenna46; Jones, Danielle37; Jorde, Lynn; Kaye, Jane S.96; Keinan, Alon; Kent, Alastair97; Kerasidou, Angeliki1; Li, Yingrui; Mathias, Rasika98; McVean, Gil A.; Moreno-Estrada, Andres; Ossorio, Pilar N.99,100; Parker, Michael101; Reich, David5; Rotimi, Charles N.93; Royal, Charmaine D.102; Sandoval, Karla46; Su, Yeyang26; Sudbrak, Ralf; Tian, Zhongming26; Timmermann, Bernd; Tishkoff, Sarah103; Toji, Lorraine H.95; Tyler-Smith, Chris; Via, Marc104; Wang, Yuhong26; Yang, Huanming26; Yang, Ling26; Zhu, Jiayong26; Bodmer, Walter105; Bedoya, Gabriel106; Ruiz-Linares, Andres; Ming, Cai Zhi26; Yang, Gao107; You, Chu Jia108,109; Peltonen, Leena; Garcia-Montero, Andres110,111; Orfao, Alberto110,112,113; Dutil, Julie114; Martinez-Cruzado, Juan C.77; Oleksyk, Taras K.; Brooks, Lisa D.; Felsenfeld, Adam L.; McEwen, Jean E.; Clemm, Nicholas C.; Duncanson, Audrey115; Dunn, Michael115; 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
刊名: NATURE
发表日期: 2012-11-01
DOI: 10.1038/nature11632
卷: 491, 期:7422, 页:56-65
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]: COPY NUMBER VARIATION ; POPULATION-SCALE ; WIDE ASSOCIATION ; CODING VARIATION ; RARE ; VARIANTS ; DISEASE ; LOCI ; DISCOVERY ; HISTORY
英文摘要:

By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here 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 methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 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 contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.

语种: 英语
所属项目编号: WT098051 ; WT090532/Z/09/Z ; WT085475/Z/08/Z ; WT095552/Z/11/Z ; WT086084/Z/08/Z ; WT089250/Z/09/Z ; WT085532AIA ; G0900747(91070) ; RG/09/12/28096 ; 2011CB809201 ; 2011CB809202 ; 2011CB809203 ; 2012AA02A201 ; 30890032 ; 31161130357 ; CXB201108250096A ; ZYC200903240080A ; ZYC201105170397A ; 2009010016 ; 01GS08201 ; 0315428A ; 31003A_130342 ; BB/I021213/1 ; KO 4037/1-1 ; 639.021.125 ; 2006BP-A 10144 ; 2009BP-B 00274 ; 04514831 ; PSR-SIIRI-195 ; UO1HG5214 ; RC2HG5581 ; RO1MH84698 ; R01HG4719 ; R01HG3698 ; RC2HG5552 ; UO1HG6513 ; R01HG4960 ; R01HG5701 ; U01HG5715 ; T32GM8283 ; U01HG5208 ; U01HG6569 ; R01HG2898 ; R01CA166661 ; UO1HG5209 ; UO1HG5725 ; P41HG4221 ; P01HG4120 ; U01HG5728 ; 2009061 ; T32GM7748 ; U54HG3079 ; UL1RR024131 ; HHSN268201100040C
项目资助者: Wellcome Trust ; Medical Research Council ; British Heart Foundation ; National Basic Research Program of China (973 program) ; Chinese 863 program ; National Natural Science Foundation of China ; Shenzhen Key Laboratory of Transomics Biotechnologies ; Shenzhen Municipal Government of China ; Guangdong Innovative Research Team Program ; BMBF ; Max Planck Society ; Swiss National Science Foundation ; Swiss National Science Foundation NCCR &prime ; Frontiers in Genetics&prime ; grant ; Louis Jeantet Foundation ; Biotechnology and Biological Sciences Research Council (BBSRC) ; German Research Foundation ; Netherlands Organization for Scientific Research VENI ; Beatriu de Pinos Program ; Israeli Science Foundation ; Genome Quebec and the Ministry of Economic Development, Innovation and Trade ; National Institutes of Health (NIH) ; BAA-NIAID-DAIT-NIHAI
WOS记录号: WOS:000310434500030
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60248
Appears in Collections:北京大学深圳医院_期刊论文

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作者单位: 1.Univ Copenhagen, Dept Biol, DK-2200 Copenhagen, Denmark
2.Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA
3.Alacris Theranost GmbH, D-14195 Berlin, Germany
4.Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA
5.Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA
6.Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA
7.Dankook Univ, Dept Nanobiomed Sci, Cheonan 330714, South Korea
8.Yale Univ, Dept Chem, New Haven, CT 06520 USA
9.Coriell Inst Med Res, Camden, NJ 08103 USA
10.Genet Alliance, London N1 3QP, England
11.Dankook Univ, Dept Biol Sci, Cheonan 330714, South Korea
12.Johns Hopkins Univ, Sch Med, Baltimore, MD 21205 USA
13.Duke Univ, Inst Genome Sci & Policy, Durham, NC 27708 USA
14.Univ Penn, Sch Med, Dept Genet, Philadelphia, PA 19104 USA
15.Harvard Univ, Ctr Syst Biol, Cambridge, MA 02138 USA
16.Illumina Inc, San Diego, CA 92122 USA
17.Stanford Univ, Dept Genet, Stanford, CA 94305 USA
18.Ancestry Com, San Francisco, CA 94107 USA
19.Univ Antioquia, Inst Biol, Mol Genet Lab, Medellin, Colombia
20.Peking Univ, Shenzhen Hosp, Shenzhen 518036, Peoples R China
21.Peking Union Med Coll, Kunming 650118, Peoples R China
22.Univ Salamanca, Cytometry Serv, Salamanca 37007, Spain
23.Univ Salamanca, Dept Med, Salamanca 37007, Spain
24.Ponce Sch Med & Hlth Sci, Ponce, PR 00716 USA
25.Wellcome Trust Res Labs, London NW1 2BE, England
26.Life Technol, Beverly, MA 01915 USA
27.Univ Cambridge, Dept Haematol, Cambridge CB2 1TN, England
28.Natl Hlth Serv Blood & Transplant, Cambridge CB2 1TN, England
29.Tel Aviv Univ, Dept Microbiol, IL-69978 Tel Aviv, Israel
30.Int Comp Sci Inst, Berkeley, CA 94704 USA
31.Translat Genom Res Inst, Phoenix, AZ 85004 USA
32.Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
33.Univ Oxford, Dept Stat, Oxford OX1 3TG, England
34.Broad Inst MIT & Harvard, Cambridge, MA 02142 USA
35.Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA
36.Harvard Univ, Sch Med, Dept Genet, Cambridge, MA 02142 USA
37.Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
38.Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA
39.Illumina United Kingdom, Near Saffron Walden CB10 1XL, Essex, England
40.Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA
41.Cornell Univ, Ctr Comparat & Populat Genom, Ithaca, NY 14850 USA
42.Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA
43.Howard Hughes Med Inst, Seattle, WA 98195 USA
44.McGill Univ, Ctr Genom & Policy, Montreal, PQ H3A 1A4, Canada
45.Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
46.Harvard Univ, Sch Med, Boston, MA 02115 USA
47.European Bioinformat Inst, Cambridge CB10 1SD, England
48.Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
49.European Mol Biol Lab, Genome Biol Res Unit, D-69117 Heidelberg, Germany
50.Max Planck Inst Mol Genet, D-14195 Berlin, Germany
51.Dahlem Ctr Genome Res & Med Syst Biol, D-14195 Berlin, Germany
52.Washington Univ, Sch Med, Genome Ctr, St Louis, MO 63108 USA
53.Boston Coll, Dept Biol, Chestnut Hill, MA 02467 USA
54.Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA
55.Affymetrix Inc, Santa Clara, CA 95051 USA
56.US Natl Inst Hlth, Natl Ctr Biotechnol Informat, Bethesda, MD 20892 USA
57.BGI Shenzhen, Shenzhen 518083, Peoples R China
58.Univ Copenhagen, Novo Nordisk Fdn Ctr Basic Metab Res, DK-2200 Copenhagen, Denmark
59.Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA
60.Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI 48109 USA
61.Mt Sinai Sch Med, Seaver Autism Ctr, New York, NY 10029 USA
62.Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY 14853 USA
63.Natl Res Council CNR, Inst Genet & Biophys, I-80125 Naples, Italy
64.Harvard Univ, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA
65.Cardiff Univ, Sch Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
66.Leiden Univ, Med Ctr, Dept Med Stat & Bioinformat, Mol Epidemiol Sect, NL-2333 ZA Leiden, Netherlands
67.Louisiana State Univ, Dept Biol Sci, Baton Rouge, LA 70803 USA
68.Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
69.Penn State Univ, Dept Anthropol, University Pk, PA 16802 USA
70.Tel Aviv Univ, Blavatnik Sch Comp Sci, IL-69978 Tel Aviv, Israel
71.Univ Calif Los Angeles, David Geffen Sch ofMedicine, Dept Human Genet, Los Angeles, CA 90024 USA
72.Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA
73.Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA
74.Univ Calif San Diego, Dept Comp Sci, La Jolla, CA 92093 USA
75.Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10461 USA
76.Univ Calif San Francisco, Dept Bioengn & Therapeut Sci & Med, San Francisco, CA 94158 USA
77.Univ Calif Santa Cruz, Ctr Biomol Sci & Engn, Santa Cruz, CA 95064 USA
78.Howard Hughes Med Inst, Santa Cruz, CA 95064 USA
79.Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
80.UCL, Dept Genet Evolut & Environm, London WC1E 6BT, England
81.Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
82.Univ Geneva, Inst Genet & Genom Geneva iGE3, CH-1211 Geneva, Switzerland
83.Swiss Inst Bioinformat, CH-1211 Geneva, Switzerland
84.Univ Maryland, Sch Med, Inst Genome Sci, Baltimore, MD 21201 USA
85.Univ Med & Dent New Jersey, IST High Performance & Res Comp, Newark, NJ 07107 USA
86.Amer Museum Nat Hist, Dept Invertebrate Zool, New York, NY 10024 USA
87.CNR, Ist Ric Genet & Biomed, I-09042 Cagliari, Italy
88.Univ Michigan, Dept Anthropol, Ann Arbor, MI 48109 USA
89.Univ Sassari, Dipartimento Sci Biomed, I-07100 Sassari, Italy
90.Ctr Adv Studies Res & Dev Sardinia CRS4, AGCT Program, I-09010 Pula, Italy
91.Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA
92.Rutgers State Univ, Dept Genet, Piscataway, NJ 08854 USA
93.Bilkent Univ, Dept Comp Engn, TR-06800 Bilkent, Turkey
94.Simon Fraser Univ, Dept Comp Sci, Burnaby, BC V5A 1S6, Canada
95.Univ Michigan, Sequencing Core, Ann Arbor, MI 48109 USA
96.NIA, Genet Lab, Baltimore, MD 21224 USA
97.Univ Montreal, Ste Justine Hosp, Res Ctr, Dept Pediat, Montreal, PQ H3T 1C5, Canada
98.Univ Puerto Rico, Dept Biol, Mayaguez, PR 00680 USA
99.Univ Texas Hlth Sci Ctr Houston, Houston, TX 77030 USA
100.Univ Utah, Sch Med, Eccles Inst Human Genet, Salt Lake City, UT 84112 USA
101.Univ Washington, Div Med Genet, Dept Med, Seattle, WA 98195 USA
102.Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77230 USA
103.Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA
104.Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, La Jolla, CA 92093 USA
105.NHGRI, US Natl Inst Hlth, Ctr Res Genom & Global Hlth, Bethesda, MD 20892 USA
106.Johns Hopkins Univ, Sch Med, Div Allergy & Clinical Immunol, Baltimore, MD 21205 USA
107.Univ Oxford, Ctr Hlth Law & Emerging Technol, Oxford OX3 7LF, England
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109.Univ Wisconsin, Sch Law, Madison, WI 53706 USA
110.Univ Oxford, Dept Publ Hlth, Ethox Ctr, Oxford OX3 7LF, England
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Recommended Citation:
Altshuler, David M.,Durbin, Richard M.,Abecasis, Goncalo R.,et al. An integrated map of genetic variation from 1,092 human genomes[J]. NATURE,2012,491(7422):56-65.
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