A map of human genome variation from population-scale sequencing
Durbin, Richard M.; Altshuler, David; Durbin, Richard M.; Abecasis, Gonçalo R.; Bentley, David R.; Chakravarti, Aravinda; Clark, Andrew G.; Collins, Francis S.; De La Vega, Francisco M.; Donnelly, Peter; Egholm, Michael; Flicek, Paul; Gabriel, Stacey B.; Gibbs, Richard A.; Knoppers, Bartha M.; Lander, Eric S.; Lehrach, Hans; Mardis, Elaine R.; McVean, Gil A.; Nickerson, Deborah A.; Peltonen, Leena; Schafer, Alan J.; Sherry, Stephen T.; Wang, Jun; Wilson, Richard K.; Gibbs, Richard A.; Deiros, David; Metzker, Mike; Muzny, Donna; Reid, Jeff; Wheeler, David; Wang, Jun; Li, Jingxiang; Jian, Min; Li, Guoqing; Li, Ruiqiang; Liang, Huiqing; Tian, Geng; Wang, Bo; Wang, Jian; Wang, Wei; Yang, Huanming; Zhang, Xiuqing; Zheng, Huisong; Lander, Eric S.; Altshuler, David; Ambrogio, Lauren; Bloom, Toby; Cibulskis, Kristian; Fennell, Tim J.; Gabriel, Stacey B.; Jaffe, David B.; Shefler, Erica; Sougnez, Carrie L.; Bentley, David R.; Gormley, Niall; Humphray, Sean; Kingsbury, Zoya; Kokko-Gonzales, Paula; Stone, Jennifer; McKernan, Kevin J.; Costa, Gina L.; Ichikawa, Jeffry K.; Lee, Clarence C.; Sudbrak, Ralf; Lehrach, Hans; Borodina, Tatiana A.; Dahl, Andreas; Davydov, Alexey N.; Marquardt, Peter; Mertes, Florian; Nietfeld, Wilfiried; Rosenstiel, Philip; Schreiber, Stefan; Soldatov, Aleksey V.; Timmermann, Bernd; Tolzmann, Marius; Egholm, Michael; Affourtit, Jason; Ashworth, Dana; Attiya, Said; Bachorski, Melissa; Buglione, Eli; Burke, Adam; Caprio, Amanda; Celone, Christopher; Clark, Shauna; Conners, David; Desany, Brian; Gu, Lisa; Guccione, Lorri; Kao, Kalvin; Kebbel, Andrew; Knowlton, Jennifer; Labrecque, Matthew; McDade, Louise; Mealmaker, Craig; Minderman, Melissa; Nawrocki, Anne; Niazi, Faheem; Pareja, Kristen; Ramenani, Ravi; Riches, David; Song, Wanmin; Turcotte, Cynthia; Wang, Shally; Mardis, Elaine R.; Wilson, Richard K.; Dooling, David; Fulton, Lucinda; Fulton, Robert; Weinstock, George; Durbin, Richard M.; Burton, John; Carter, David M.; Churcher, Carol; Coffey, Alison; Cox, Anthony; Palotie, Aarno; Quail, Michael; Skelly, Tom; Stalker, James; Swerdlow, Harold P.; Turner, Daniel; De Witte, Anniek; Giles, Shane; Gibbs, Richard A.; Wheeler, David; Bainbridge, Matthew; Challis, Danny; Sabo, Aniko; Yu, Fuli; Yu, Jin; Wang, Jun; Fang, Xiaodong; Guo, Xiaosen; Li, Ruiqiang; Li, Yingrui; Luo, Ruibang; Tai, Shuaishuai; Wu, Honglong; Zheng, Hancheng; Zheng, Xiaole; Zhou, Yan; Li, Guoqing; Wang, Jian; Yang, Huanming; Marth, Gabor T.; Garrison, Erik P.; Huang, Weichun; Indap, Amit; Kural, Deniz; Lee, Wan-Ping; Fung Leong, Wen; Quinlan, Aaron R.; Stewart, Chip; Stromberg, Michael P.; Ward, Alistair N.; Wu, Jiantao; Lee, Charles; Mills, Ryan E.; Shi, Xinghua; Daly, Mark J.; DePristo, Mark A.; Altshuler, David; Ball, Aaron D.; Banks, Eric; Bloom, Toby; Browning, Brian L.; Cibulskis, Kristian; Fennell, Tim J.; Garimella, Kiran V.; Grossman, Sharon R.; Handsaker, Robert E.; Hanna, Matt; Hartl, Chris; Jaffe, David B.; Kernytsky, Andrew M.; Korn, Joshua M.; Li, Heng; Maguire, Jared R.; McCarroll, Steven A.; McKenna, Aaron; Nemesh, James C.; Philippakis, Anthony A.; Poplin, Ryan E.; Price, Alkes; Rivas, Manuel A.; Sabeti, Pardis C.; Schaffner, Stephen F.; Shefler, Erica; Shlyakhter, Ilya A.; Cooper, David N.; Ball, Edward V.; Mort, Matthew; Phillips, Andrew D.; Stenson, Peter D.; Sebat, Jonathan; Makarov, Vladimir; Ye, Kenny; Yoon, Seungtai C.; Bustamante, Carlos D.; Clarke, Laura; Flicek, Paul; Cunningham, Fiona; Herrero, Javier; Keenen, Stephen; Kulesha, Eugene; Leinonen, Rasko; McLaren, William M.; Radhakrishnan, Rajesh; Smith, Richard E.; Zalunin, Vadim; Zheng-Bradley, Xiangqun; Korbel, Jan O.; Stütz, Adrian M.; Humphray, Sean; Bauer, Markus; Keira Cheetham, R.; Cox, Tony; Eberle, Michael; James, Terena; Kahn, Scott; Murray, Lisa; Chakravarti, Aravinda; Ye, Kai; De La Vega, Francisco M.; Fu, Yutao; Hyland, Fiona C. L.; Manning, Jonathan M.; McLaughlin, Stephen F.; Peckham, Heather E.; Sakarya, Onur; Sun, Yongming A.; Tsung, Eric F.; Batzer, Mark A.; Konkel, Miriam K.; Walker, Jerilyn A.; Sudbrak, Ralf; Albrecht, Marcus W.; Amstislavskiy, Vyacheslav S.; Herwig, Ralf; Parkhomchuk, Dimitri V.; Sherry, Stephen T.; Agarwala, Richa; Khouri, Hoda M.; Morgulis, Aleksandr O.; Paschall, Justin E.; Phan, Lon D.; Rotmistrovsky, Kirill E.; Sanders, Robert D.; Shumway, Martin F.; Xiao, Chunlin; McVean, Gil A.; Auton, Adam; Iqbal, Zamin; Lunter, Gerton; Marchini, Jonathan L.; Moutsianas, Loukas; Myers, Simon; Tumian, Afidalina; Desany, Brian; Knight, James; Winer, Roger; Craig, David W.; Beckstrom-Sternberg, Steve M.; Christoforides, Alexis; Kurdoglu, Ahmet A.; Pearson, John V.; Sinari, Shripad A.; Tembe, Waibhav D.; Haussler, David; Hinrichs, Angie S.; Katzman, Sol J.; Kern, Andrew; Kuhn, Robert M.; Przeworski, Molly; Hernandez, Ryan D.; Howie, Bryan; Kelley, Joanna L.; Cord Melton, S.; Abecasis, Gonçalo R.; Li, Yun; Anderson, Paul; Blackwell, Tom; Chen, Wei; Cookson, William O.; Ding, Jun; Min Kang, Hyun; Lathrop, Mark; Liang, Liming; Moffatt, Miriam F.; Scheet, Paul; Sidore, Carlo; Snyder, Matthew; Zhan, Xiaowei; Zöllner, Sebastian; Awadalla, Philip; Cartwright, Reed A.; Casals, Ferran; Idaghdour, Youssef; Keebler, Jonathan; Stone, Eric A.; Zilversmit, Martine; Jorde, Lynn; Xing, Jinchuan; Eichler, Evan E.; Aksay, Gozde; Alkan, Can; Hajirasouliha, Iman; Mardis, Elaine R.; Chen, Ken; Chinwalla, Asif; Ding, Li; Koboldt, Daniel C.; McLellan, Mike D.; Dooling, David; Weinstock, George; Wallis, John W.; Wendl, Michael C.; Zhang, Qunyuan; Durbin, Richard M.; Albers, Cornelis A.; Ayub, Qasim; Balasubramaniam, Senduran; Barrett, Jeffrey C.; Carter, David M.; Chen, Yuan; Conrad, Donald F.; Danecek, Petr; Dermitzakis, Emmanouil T.; Hu, Min; Huang, Ni; Hurles, Matt E.; Jin, Hanjun; Jostins, Luke; Keane, Thomas M.; Quang Le, Si; Lindsay, Sarah; Long, Quan; MacArthur, Daniel G.; Montgomery, Stephen B.; Parts, Leopold; Stalker, James; Tyler-Smith, Chris; Walter, Klaudia; Xue, Yali; Zhang, Yujun; Gerstein, Mark B.; Snyder, Michael; Abyzov, Alexej; Balasubramanian, Suganthi; Bjornson, Robert; Du, Jiang; Grubert, Fabian; Habegger, Lukas; Haraksingh, Rajini; Jee, Justin; Khurana, Ekta; Lam, Hugo Y. K.; Leng, Jing; Jasmine Mu, Xinmeng; Urban, Alexander E.; Zhang, Zhengdong; Li, Yingrui; Luo, Ruibang; Marth, Gabor T.; Garrison, Erik P.; Kural, Deniz; Quinlan, Aaron R.; Stewart, Chip; Stromberg, Michael P.; Ward, Alistair N.; Wu, Jiantao; Lee, Charles; Mills, Ryan E.; Shi, Xinghua; McCarroll, Steven A.; Banks, Eric; DePristo, Mark A.; Handsaker, Robert E.; Hartl, Chris; Korn, Joshua M.; Li, Heng; Nemesh, James C.; Sebat, Jonathan; Makarov, Vladimir; Ye, Kenny; Yoon, Seungtai C.; Degenhardt, Jeremiah; Kaganovich, Mark; Clarke, Laura; Smith, Richard E.; Zheng-Bradley, Xiangqun; Korbel, Jan O.; Humphray, Sean; Keira Cheetham, R.; Eberle, Michael; Kahn, Scott; Murray, Lisa; Ye, Kai; De La Vega, Francisco M.; Fu, Yutao; Peckham, Heather E.; Sun, Yongming A.; Batzer, Mark A.; Konkel, Miriam K.; Walker, Jerilyn A.; Xiao, Chunlin; Iqbal, Zamin; Desany, Brian; Blackwell, Tom; Snyder, Matthew; Xing, Jinchuan; Eichler, Evan E.; Aksay, Gozde; Alkan, Can; Hajirasouliha, Iman; Hormozdiari, Fereydoun; Kidd, Jeffrey M.; Chen, Ken; Chinwalla, Asif; Ding, Li; McLellan, Mike D.; Wallis, John W.; Hurles, Matt E.; Conrad, Donald F.; Walter, Klaudia; Zhang, Yujun; Gerstein, Mark B.; Snyder, Michael; Abyzov, Alexej; Du, Jiang; Grubert, Fabian; Haraksingh, Rajini; Jee, Justin; Khurana, Ekta; Lam, Hugo Y. K.; Leng, Jing; Jasmine Mu, Xinmeng; Urban, Alexander E.; Zhang, Zhengdong; Gibbs, Richard A.; Bainbridge, Matthew; Challis, Danny; Coafra, Cristian; Dinh, Huyen; Kovar, Christie; Lee, Sandy; Muzny, Donna; Nazareth, Lynne; Reid, Jeff; Sabo, Aniko; Yu, Fuli; Yu, Jin; Marth, Gabor T.; Garrison, Erik P.; Indap, Amit; Fung Leong, Wen; Quinlan, Aaron R.; Stewart, Chip; Ward, Alistair N.; Wu, Jiantao; Cibulskis, Kristian; Fennell, Tim J.; Gabriel, Stacey B.; Garimella, Kiran V.; Hartl, Chris; Shefler, Erica; Sougnez, Carrie L.; Wilkinson, Jane; Clark, Andrew G.; Gravel, Simon; Grubert, Fabian; Clarke, Laura; Flicek, Paul; Smith, Richard E.; Zheng-Bradley, Xiangqun; Sherry, Stephen T.; Khouri, Hoda M.; Paschall, Justin E.; Shumway, Martin F.; Xiao, Chunlin; McVean, Gil A.; Katzman, Sol J.; Abecasis, Gonçalo R.; Blackwell, Tom; Mardis, Elaine R.; Dooling, David; Fulton, Lucinda; Fulton, Robert; Koboldt, Daniel C.; Durbin, Richard M.; Balasubramaniam, Senduran; Coffey, Allison; Keane, Thomas M.; MacArthur, Daniel G.; Palotie, Aarno; Scott, Carol; Stalker, James; Tyler-Smith, Chris; Gerstein, Mark B.; Balasubramanian, Suganthi; Chakravarti, Aravinda; Knoppers, Bartha M.; Peltonen, Leena; Abecasis, Gonçalo R.; Bustamante, Carlos D.; Gharani, Neda; Gibbs, Richard A.; Jorde, Lynn; Kaye, Jane S.; Kent, Alastair; Li, Taosha; McGuire, Amy L.; McVean, Gil A.; Ossorio, Pilar N.; Rotimi, Charles N.; Su, Yeyang; Toji, Lorraine H.; Tyler-Smith, Chris; Brooks, Lisa D.; Felsenfeld, Adam L.; McEwen, Jean E.; Abdallah, Assya; Juenger, Christopher R.; Clemm, Nicholas C.; Collins, Francis S.; Duncanson, Audrey; Green, Eric D.; Guyer, Mark S.; Peterson, Jane L.; Schafer, Alan J.; Abecasis, Gonçalo R.; Altshuler, David; Auton, Adam; Brooks, Lisa D.; Durbin, Richard M.; Gibbs, Richard A.; Hurles, Matt E.; McVean, Gil A.; The 1000 Genomes Project Consortium; Corresponding author; Steering committee; Production group: Baylor College of Medicine; BGI-Shenzhen; Broad Institute of MIT and Harvard; Illumina; Life Technologies; Max Planck Institute for Molecular Genetics; Roche Applied Science; Washington University in St Louis; Wellcome Trust Sanger Institute; Analysis group: Agilent Technologies; Baylor College of Medicine; BGI-Shenzhen; Boston College; Brigham and Womenâ s Hospital; Broad Institute of MIT and Harvard; Cardiff University, The Human Gene Mutation Database; Cold Spring Harbor Laboratory; Cornell and Stanford Universities; European Bioinformatics Institute; European Molecular Biology Laboratory; Illumina; Johns Hopkins University; Leiden University Medical Center; Life Technologies; Louisiana State University; Max Planck Institute for Molecular Genetics; US National Institutes of Health; Oxford University; Roche Applied Science; The Translational Genomics Research Institute; University of California, Santa Cruz; University of Chicago; University of Michigan; University of Montreal; University of Utah; University of Washington; Washington University in St Louis; Wellcome Trust Sanger Institute; Yale and Stanford Universities; Structural variation group: BGI-Shenzhen; Boston College; Brigham and Womenâ s Hospital; Broad Institute of MIT and Harvard; Cold Spring Harbor Laboratory; Cornell and Stanford Universities; European Bioinformatics Institute; European Molecular Biology Laboratory; Illumina; Leiden University Medical Center; Life Technologies; Louisiana State University; US National Institutes of Health; Oxford University; Roche Applied Science; University of Michigan; University of Utah; University of Washington; Washington University in St Louis; Wellcome Trust Sanger Institute; Yale and Stanford Universities; Exon pilot group: Baylor College of Medicine; Boston College; Broad Institute of MIT and Harvard; Cornell and Stanford Universities; European Bioinformatics Institute; US National Institutes of Health; Oxford University; University of California, Santa Cruz; University of Michigan; Washington University in St Louis; Wellcome Trust Sanger Institute; Yale University; Samples and ELSI group; Scientific management; Writing group; Durbin, Richard M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Altshuler, David; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Durbin, Richard M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Abecasis, Gonçalo R.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Bentley, David R.; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Chakravarti, Aravinda; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.; Clark, Andrew G.; Center for Comparative and Population Genomics, Cornell University, Ithaca, New York 14850, USA.; Collins, Francis S.; US National Institutes of Health, 1 Center Drive, Bethesda, Maryland 20892, USA.; De La Vega, Francisco M.; Life Technologies, Foster City, California 94404, USA.; Donnelly, Peter; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Egholm, Michael; Pall Corporation, 25 Harbor Park Drive, Port Washington, New York 11050, USA.; Flicek, Paul; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Gabriel, Stacey B.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Gibbs, Richard A.; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Knoppers, Bartha M.; Centre of Genomics and Policy, McGill University, Montréal, Québec H3A 1A4, Canada.; Lander, Eric S.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Lehrach, Hans; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Mardis, Elaine R.; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; McVean, Gil A.; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Nickerson, Deborah A.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.; Peltonen, Leena; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Schafer, Alan J.; Wellcome Trust, Gibbs Building, 215 Euston Road, London NW1 2BE, UK.; Sherry, Stephen T.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Wang, Jun; BGI-Shenzhen, Shenzhen 518083, China.; Department of Biology, University of Copenhagen 2200, Denmark.; Wilson, Richard K.; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Gibbs, Richard A.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Deiros, David; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Metzker, Mike; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Muzny, Donna; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Reid, Jeff; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Wheeler, David; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Wang, Jun; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Li, Jingxiang; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Jian, Min; BGI-Shenzhen, Shenzhen 518083, China.; Li, Guoqing; BGI-Shenzhen, Shenzhen 518083, China.; Li, Ruiqiang; BGI-Shenzhen, Shenzhen 518083, China.; Department of Biology, University of Copenhagen 2200, Denmark.; Liang, Huiqing; BGI-Shenzhen, Shenzhen 518083, China.; Tian, Geng; BGI-Shenzhen, Shenzhen 518083, China.; Wang, Bo; BGI-Shenzhen, Shenzhen 518083, China.; Wang, Jian; BGI-Shenzhen, Shenzhen 518083, China.; Wang, Wei; BGI-Shenzhen, Shenzhen 518083, China.; Yang, Huanming; BGI-Shenzhen, Shenzhen 518083, China.; Zhang, Xiuqing; BGI-Shenzhen, Shenzhen 518083, China.; Zheng, Huisong; BGI-Shenzhen, Shenzhen 518083, China.; Lander, Eric S.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Altshuler, David; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Genetics, Harvard Medical School, Cambridge, Massachusetts 02115, USA.; Ambrogio, Lauren; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Bloom, Toby; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Cibulskis, Kristian; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Fennell, Tim J.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Gabriel, Stacey B.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Jaffe, David B.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Shefler, Erica; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Sougnez, Carrie L.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Bentley, David R.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Gormley, Niall; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Humphray, Sean; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Kingsbury, Zoya; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Kokko-Gonzales, Paula; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Stone, Jennifer; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; McKernan, Kevin J.; Life Technologies, Beverly, Massachusetts 01915, USA.; Costa, Gina L.; Life Technologies, Beverly, Massachusetts 01915, USA.; Ichikawa, Jeffry K.; Life Technologies, Beverly, Massachusetts 01915, USA.; Lee, Clarence C.; Life Technologies, Beverly, Massachusetts 01915, USA.; Sudbrak, Ralf; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Lehrach, Hans; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Borodina, Tatiana A.; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Dahl, Andreas; Deep Sequencing Group, Biotechnology Center TU Dresden, Tatzberg 47/49, 01307 Dresden, Germany.; Davydov, Alexey N.; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Marquardt, Peter; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Mertes, Florian; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Nietfeld, Wilfiried; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Rosenstiel, Philip; Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Kiel 24105, Germany.; Schreiber, Stefan; Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Kiel 24105, Germany.; Soldatov, Aleksey V.; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Timmermann, Bernd; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Tolzmann, Marius; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Egholm, Michael; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Affourtit, Jason; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Ashworth, Dana; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Attiya, Said; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Bachorski, Melissa; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Buglione, Eli; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Burke, Adam; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Caprio, Amanda; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Celone, Christopher; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Clark, Shauna; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Conners, David; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Desany, Brian; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Gu, Lisa; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Guccione, Lorri; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Kao, Kalvin; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Kebbel, Andrew; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Knowlton, Jennifer; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Labrecque, Matthew; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; McDade, Louise; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Mealmaker, Craig; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Minderman, Melissa; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Nawrocki, Anne; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Niazi, Faheem; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Pareja, Kristen; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Ramenani, Ravi; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Riches, David; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Song, Wanmin; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Turcotte, Cynthia; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Wang, Shally; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Mardis, Elaine R.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Wilson, Richard K.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Dooling, David; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Fulton, Lucinda; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Fulton, Robert; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Weinstock, George; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Durbin, Richard M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Burton, John; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Carter, David M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Churcher, Carol; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Coffey, Alison; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Cox, Anthony; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Palotie, Aarno; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Department of Medical Genetics, Institute of Molecular Medicine (FIMM) of the University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland.; Quail, Michael; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Skelly, Tom; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Stalker, James; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Swerdlow, Harold P.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Turner, Daniel; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; De Witte, Anniek; Agilent Technologies Inc., Santa Clara, California 95051, USA.; Giles, Shane; Agilent Technologies Inc., Santa Clara, California 95051, USA.; Gibbs, Richard A.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Wheeler, David; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Bainbridge, Matthew; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Challis, Danny; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Sabo, Aniko; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Yu, Fuli; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Yu, Jin; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Wang, Jun; BGI-Shenzhen, Shenzhen 518083, China.; Fang, Xiaodong; BGI-Shenzhen, Shenzhen 518083, China.; Guo, Xiaosen; BGI-Shenzhen, Shenzhen 518083, China.; Li, Ruiqiang; BGI-Shenzhen, Shenzhen 518083, China.; Department of Biology, University of Copenhagen 2200, Denmark.; Li, Yingrui; BGI-Shenzhen, Shenzhen 518083, China.; Luo, Ruibang; BGI-Shenzhen, Shenzhen 518083, China.; Tai, Shuaishuai; BGI-Shenzhen, Shenzhen 518083, China.; Wu, Honglong; BGI-Shenzhen, Shenzhen 518083, China.; Zheng, Hancheng; BGI-Shenzhen, Shenzhen 518083, China.; Zheng, Xiaole; BGI-Shenzhen, Shenzhen 518083, China.; Zhou, Yan; BGI-Shenzhen, Shenzhen 518083, China.; Li, Guoqing; BGI-Shenzhen, Shenzhen 518083, China.; Wang, Jian; BGI-Shenzhen, Shenzhen 518083, China.; Yang, Huanming; BGI-Shenzhen, Shenzhen 518083, China.; Marth, Gabor T.; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Garrison, Erik P.; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Huang, Weichun; US National Institutes of Health, National Institute of Environmental Health Sciences, 111 T W Alexander Drive, Research Triangle Park, North Carolina 27709, USA.; Indap, Amit; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Kural, Deniz; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Lee, Wan-Ping; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Fung Leong, Wen; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Quinlan, Aaron R.; Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA.; Stewart, Chip; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Stromberg, Michael P.; Illumina, San Diego, California 92121, USA.; Ward, Alistair N.; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Wu, Jiantao; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Lee, Charles; Department of Pathology, Brigham and Womenâ s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.; Mills, Ryan E.; Department of Pathology, Brigham and Womenâ s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.; Shi, Xinghua; Department of Pathology, Brigham and Womenâ s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.; Daly, Mark J.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; DePristo, Mark A.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Altshuler, David; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Department of Pathology, Brigham and Womenâ s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.; Ball, Aaron D.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Banks, Eric; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Bloom, Toby; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Browning, Brian L.; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA.; Cibulskis, Kristian; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Fennell, Tim J.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Garimella, Kiran V.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Grossman, Sharon R.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Center for Systems Biology, Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, Massachusetts 02138, USA.; Handsaker, Robert E.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Hanna, Matt; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Hartl, Chris; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Jaffe, David B.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Kernytsky, Andrew M.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Korn, Joshua M.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Li, Heng; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Maguire, Jared R.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; McCarroll, Steven A.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Department of Genetics, Harvard Medical School, Cambridge, Massachusetts 02115, USA.; McKenna, Aaron; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Nemesh, James C.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Philippakis, Anthony A.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Poplin, Ryan E.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Price, Alkes; Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA.; Rivas, Manuel A.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Sabeti, Pardis C.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Center for Systems Biology, Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, Massachusetts 02138, USA.; Schaffner, Stephen F.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Shefler, Erica; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Shlyakhter, Ilya A.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Center for Systems Biology, Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, Massachusetts 02138, USA.; Cooper, David N.; Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; Ball, Edward V.; Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; Mort, Matthew; Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; Phillips, Andrew D.; Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; Stenson, Peter D.; Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; Sebat, Jonathan; Departments of Psychiatry and Cellular and Molecular Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, California 92093, USA.; Makarov, Vladimir; Seaver Autism Center and Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA.; Ye, Kenny; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York 10461, USA.; Yoon, Seungtai C.; Seaver Autism Center and Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA.; Bustamante, Carlos D.; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Clarke, Laura; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Flicek, Paul; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Cunningham, Fiona; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Herrero, Javier; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Keenen, Stephen; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Kulesha, Eugene; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Leinonen, Rasko; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; McLaren, William M.; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Radhakrishnan, Rajesh; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Smith, Richard E.; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Zalunin, Vadim; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Zheng-Bradley, Xiangqun; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Korbel, Jan O.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Stütz, Adrian M.; European Molecular Biology Laboratory, Genome Biology Research Unit, Meyerhofstrasse 1, Heidelberg 69117, Germany.; Humphray, Sean; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Bauer, Markus; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Keira Cheetham, R.; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Cox, Tony; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Eberle, Michael; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; James, Terena; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Kahn, Scott; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Murray, Lisa; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Chakravarti, Aravinda; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.; Ye, Kai; Molecular Epidemiology Section, Medical Statistics and Bioinformatics, Leiden University Medical Center, 2333 ZA, The Netherlands.; De La Vega, Francisco M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Fu, Yutao; Life Technologies, Beverly, Massachusetts 01915, USA.; Hyland, Fiona C. L.; Life Technologies, Foster City, California 94404, USA.; Manning, Jonathan M.; Life Technologies, Beverly, Massachusetts 01915, USA.; McLaughlin, Stephen F.; Life Technologies, Beverly, Massachusetts 01915, USA.; Peckham, Heather E.; Life Technologies, Beverly, Massachusetts 01915, USA.; Sakarya, Onur; Life Technologies, Foster City, California 94404, USA.; Sun, Yongming A.; Life Technologies, Foster City, California 94404, USA.; Tsung, Eric F.; Life Technologies, Beverly, Massachusetts 01915, USA.; Batzer, Mark A.; Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana 70803, USA.; Konkel, Miriam K.; Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana 70803, USA.; Walker, Jerilyn A.; Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana 70803, USA.; Sudbrak, Ralf; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Albrecht, Marcus W.; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Amstislavskiy, Vyacheslav S.; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Herwig, Ralf; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Parkhomchuk, Dimitri V.; Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany.; Sherry, Stephen T.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Agarwala, Richa; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Khouri, Hoda M.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Morgulis, Aleksandr O.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Paschall, Justin E.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Phan, Lon D.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Rotmistrovsky, Kirill E.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Sanders, Robert D.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Shumway, Martin F.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Xiao, Chunlin; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; McVean, Gil A.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Auton, Adam; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Iqbal, Zamin; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Lunter, Gerton; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Marchini, Jonathan L.; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Department of Statistics, University of Oxford, Oxford OX1 3TG, UK.; Moutsianas, Loukas; Department of Statistics, University of Oxford, Oxford OX1 3TG, UK.; Myers, Simon; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Department of Statistics, University of Oxford, Oxford OX1 3TG, UK.; Tumian, Afidalina; Department of Statistics, University of Oxford, Oxford OX1 3TG, UK.; Desany, Brian; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Knight, James; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Winer, Roger; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Craig, David W.; The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, Arizona 85004, USA.; Beckstrom-Sternberg, Steve M.; The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, Arizona 85004, USA.; Christoforides, Alexis; The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, Arizona 85004, USA.; Kurdoglu, Ahmet A.; The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, Arizona 85004, USA.; Pearson, John V.; The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, Arizona 85004, USA.; Sinari, Shripad A.; The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, Arizona 85004, USA.; Tembe, Waibhav D.; The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, Arizona 85004, USA.; Haussler, David; Center for Biomolecular Science and Engineering, University of California Santa Cruz, Santa Cruz, California 95064, USA.; Hinrichs, Angie S.; Center for Biomolecular Science and Engineering, University of California Santa Cruz, Santa Cruz, California 95064, USA.; Katzman, Sol J.; Center for Biomolecular Science and Engineering, University of California Santa Cruz, Santa Cruz, California 95064, USA.; Kern, Andrew; Center for Biomolecular Science and Engineering, University of California Santa Cruz, Santa Cruz, California 95064, USA.; Kuhn, Robert M.; Center for Biomolecular Science and Engineering, University of California Santa Cruz, Santa Cruz, California 95064, USA.; Przeworski, Molly; Department of Human Genetics and Howard Hughes Medical Institute, University of Chicago, Chicago, Illinois 60637, USA.; Hernandez, Ryan D.; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California 94158, USA.; Howie, Bryan; Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.; Kelley, Joanna L.; Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.; Cord Melton, S.; Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.; Abecasis, Gonçalo R.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Li, Yun; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Anderson, Paul; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Blackwell, Tom; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Chen, Wei; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Cookson, William O.; National Heart and Lung Institute, Imperial College London, London SW7 2, UK.; Ding, Jun; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Min Kang, Hyun; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Lathrop, Mark; Centre Nationale de Génotypage, Evry 91000, France.; Liang, Liming; Departments of Epidemiology and Biostatistics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.; Moffatt, Miriam F.; National Heart and Lung Institute, Imperial College London, London SW7 2, UK.; Scheet, Paul; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.; Sidore, Carlo; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Snyder, Matthew; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Zhan, Xiaowei; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Zöllner, Sebastian; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Awadalla, Philip; Department of Pediatrics, Faculty of Medicine, University of Montréal, Ste. Justine Hospital Research Centre, Montréal, Québec H3T 1C5, Canada.; Cartwright, Reed A.; Department of Ecology and Evolutionary Biology, Rice University, Houston, Texas 77251, USA.; Casals, Ferran; Department of Medicine, Centre Hospitalier de lâ Université de Montréal Research Center, Université de Montréal, Montréal, Québec H2L 2W5, Canada.; Idaghdour, Youssef; Department of Medicine, Centre Hospitalier de lâ Université de Montréal Research Center, Université de Montréal, Montréal, Québec H2L 2W5, Canada.; Keebler, Jonathan; Department of Medicine, Centre Hospitalier de lâ Université de Montréal Research Center, Université de Montréal, Montréal, Québec H2L 2W5, Canada.; Stone, Eric A.; Department of Medicine, Centre Hospitalier de lâ Université de Montréal Research Center, Université de Montréal, Montréal, Québec H2L 2W5, Canada.; Zilversmit, Martine; Department of Medicine, Centre Hospitalier de lâ Université de Montréal Research Center, Université de Montréal, Montréal, Québec H2L 2W5, Canada.; Jorde, Lynn; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Xing, Jinchuan; Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.; Eichler, Evan E.; Department of Genome Sciences, University of Washington School of Medicine and Howard Hughes Medical Institute, Seattle, Washington 98195, USA.; Aksay, Gozde; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.; Alkan, Can; Department of Genome Sciences, University of Washington School of Medicine and Howard Hughes Medical Institute, Seattle, Washington 98195, USA.; Hajirasouliha, Iman; Department of Computer Science, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada.; Mardis, Elaine R.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Chen, Ken; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Chinwalla, Asif; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Ding, Li; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Koboldt, Daniel C.; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; McLellan, Mike D.; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Dooling, David; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Weinstock, George; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Wallis, John W.; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Wendl, Michael C.; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Zhang, Qunyuan; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Durbin, Richard M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Albers, Cornelis A.; Department of Haematology, University of Cambridge and National Health Service Blood and Transplant, Cambridge CB2 1TN, UK.; Ayub, Qasim; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Balasubramaniam, Senduran; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Barrett, Jeffrey C.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Carter, David M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Chen, Yuan; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Conrad, Donald F.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Danecek, Petr; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Dermitzakis, Emmanouil T.; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.; Hu, Min; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Huang, Ni; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Hurles, Matt E.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Jin, Hanjun; Center for Genome Science, Korea National Institute of Health, 194, Tongil-Lo, Eunpyung-Gu, Seoul 122-701, Korea.; Jostins, Luke; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Keane, Thomas M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Quang Le, Si; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Lindsay, Sarah; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Long, Quan; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; MacArthur, Daniel G.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Montgomery, Stephen B.; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.; Parts, Leopold; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Stalker, James; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Tyler-Smith, Chris; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Walter, Klaudia; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Xue, Yali; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Zhang, Yujun; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Gerstein, Mark B.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Snyder, Michael; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Abyzov, Alexej; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Balasubramanian, Suganthi; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.; Bjornson, Robert; Department of Computer Science, Yale University, New Haven, Connecticut 06520, USA.; Du, Jiang; Department of Computer Science, Yale University, New Haven, Connecticut 06520, USA.; Grubert, Fabian; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Habegger, Lukas; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Haraksingh, Rajini; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Jee, Justin; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Khurana, Ekta; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.; Lam, Hugo Y. K.; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Leng, Jing; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Jasmine Mu, Xinmeng; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Urban, Alexander E.; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Department of Psychiatry and Behavioral Studies, Stanford University, Stanford, California 94305, USA.; Zhang, Zhengdong; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.; Li, Yingrui; BGI-Shenzhen, Shenzhen 518083, China.; Luo, Ruibang; BGI-Shenzhen, Shenzhen 518083, China.; Marth, Gabor T.; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Garrison, Erik P.; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Kural, Deniz; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Quinlan, Aaron R.; Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA.; Stewart, Chip; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Stromberg, Michael P.; Illumina, San Diego, California 92121, USA.; Ward, Alistair N.; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Wu, Jiantao; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Lee, Charles; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Mills, Ryan E.; Department of Pathology, Brigham and Womenâ s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.; Shi, Xinghua; Department of Pathology, Brigham and Womenâ s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.; McCarroll, Steven A.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Banks, Eric; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; DePristo, Mark A.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Handsaker, Robert E.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Hartl, Chris; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Korn, Joshua M.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Li, Heng; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Nemesh, James C.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Sebat, Jonathan; Departments of Psychiatry and Cellular and Molecular Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, California 92093, USA.; Makarov, Vladimir; Seaver Autism Center and Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA.; Ye, Kenny; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York 10461, USA.; Yoon, Seungtai C.; Seaver Autism Center and Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA.; Degenhardt, Jeremiah; Center for Comparative and Population Genomics, Cornell University, Ithaca, New York 14850, USA.; Kaganovich, Mark; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Clarke, Laura; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Smith, Richard E.; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Zheng-Bradley, Xiangqun; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Korbel, Jan O.; European Molecular Biology Laboratory, Genome Biology Research Unit, Meyerhofstrasse 1, Heidelberg 69117, Germany.; Humphray, Sean; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Keira Cheetham, R.; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Eberle, Michael; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Kahn, Scott; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Murray, Lisa; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.; Ye, Kai; Molecular Epidemiology Section, Medical Statistics and Bioinformatics, Leiden University Medical Center, 2333 ZA, The Netherlands.; De La Vega, Francisco M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Fu, Yutao; Life Technologies, Beverly, Massachusetts 01915, USA.; Peckham, Heather E.; Life Technologies, Beverly, Massachusetts 01915, USA.; Sun, Yongming A.; Life Technologies, Foster City, California 94404, USA.; Batzer, Mark A.; Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana 70803, USA.; Konkel, Miriam K.; Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana 70803, USA.; Walker, Jerilyn A.; Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana 70803, USA.; Xiao, Chunlin; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Iqbal, Zamin; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Desany, Brian; Roche Applied Science, 20 Commercial Street, Branford, Connecticut 06405, USA.; Blackwell, Tom; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Snyder, Matthew; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Xing, Jinchuan; Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.; Eichler, Evan E.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Aksay, Gozde; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.; Alkan, Can; Department of Genome Sciences, University of Washington School of Medicine and Howard Hughes Medical Institute, Seattle, Washington 98195, USA.; Hajirasouliha, Iman; Department of Computer Science, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada.; Hormozdiari, Fereydoun; Department of Computer Science, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada.; Kidd, Jeffrey M.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Chen, Ken; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Chinwalla, Asif; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Ding, Li; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; McLellan, Mike D.; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Wallis, John W.; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Hurles, Matt E.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Conrad, Donald F.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Walter, Klaudia; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Zhang, Yujun; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Gerstein, Mark B.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Snyder, Michael; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Abyzov, Alexej; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Du, Jiang; Department of Computer Science, Yale University, New Haven, Connecticut 06520, USA.; Grubert, Fabian; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Haraksingh, Rajini; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Jee, Justin; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Khurana, Ekta; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.; Lam, Hugo Y. K.; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Leng, Jing; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Jasmine Mu, Xinmeng; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.; Urban, Alexander E.; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Department of Psychiatry and Behavioral Studies, Stanford University, Stanford, California 94305, USA.; Zhang, Zhengdong; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.; Gibbs, Richard A.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Bainbridge, Matthew; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Challis, Danny; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Coafra, Cristian; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Dinh, Huyen; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Kovar, Christie; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Lee, Sandy; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Muzny, Donna; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Nazareth, Lynne; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Reid, Jeff; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Sabo, Aniko; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Yu, Fuli; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Yu, Jin; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Marth, Gabor T.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Garrison, Erik P.; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Indap, Amit; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Fung Leong, Wen; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Quinlan, Aaron R.; Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA.; Stewart, Chip; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Ward, Alistair N.; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Wu, Jiantao; Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA.; Cibulskis, Kristian; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Fennell, Tim J.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Gabriel, Stacey B.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Garimella, Kiran V.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Hartl, Chris; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Shefler, Erica; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Sougnez, Carrie L.; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Wilkinson, Jane; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Clark, Andrew G.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Gravel, Simon; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Grubert, Fabian; Department of Genetics, Stanford University, Stanford, California 94305, USA.; Clarke, Laura; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Flicek, Paul; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Smith, Richard E.; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Zheng-Bradley, Xiangqun; European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK.; Sherry, Stephen T.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Khouri, Hoda M.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Paschall, Justin E.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Shumway, Martin F.; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; Xiao, Chunlin; US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, Maryland 20892, USA.; McVean, Gil A.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Katzman, Sol J.; Center for Biomolecular Science and Engineering, University of California Santa Cruz, Santa Cruz, California 95064, USA.; Abecasis, Gonçalo R.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Blackwell, Tom; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Mardis, Elaine R.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Dooling, David; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Fulton, Lucinda; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Fulton, Robert; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Koboldt, Daniel C.; The Genome Center, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Durbin, Richard M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Balasubramaniam, Senduran; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Coffey, Allison; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Keane, Thomas M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; MacArthur, Daniel G.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Palotie, Aarno; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Department of Medical Genetics, Institute of Molecular Medicine (FIMM) of the University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland.; Scott, Carol; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Stalker, James; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Tyler-Smith, Chris; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Gerstein, Mark B.; Department of Computer Science, Yale University, New Haven, Connecticut 06520, USA.; Balasubramanian, Suganthi; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.; Chakravarti, Aravinda; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Knoppers, Bartha M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Abecasis, Gonçalo R.; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Bustamante, Carlos D.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Gharani, Neda; Coriell Institute, 403 Haddon Avenue, Camden, New Jersey 08103, USA.; Gibbs, Richard A.; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Jorde, Lynn; Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.; Kaye, Jane S.; Centre for Health, Law and Emerging Technologies, University of Oxford, Oxford OX3 7LF, UK.; Kent, Alastair; Genetic Alliance, 436 Essex Road, London N1 3QP, UK.; Li, Taosha; BGI-Shenzhen, Shenzhen 518083, China.; McGuire, Amy L.; Center for Medical Ethics and Health Policy, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; McVean, Gil A.; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Ossorio, Pilar N.; Department of Medical History and Bioethics, University of Wisconsinâ Madison, Madison, Wisconsin 53706, USA.; Rotimi, Charles N.; US National Institutes of Health, Center for Research on Genomics and Global Health, 12 South Drive, Bethesda, Maryland 20892, USA.; Su, Yeyang; BGI-Shenzhen, Shenzhen 518083, China.; Toji, Lorraine H.; Coriell Institute, 403 Haddon Avenue, Camden, New Jersey 08103, USA.; Tyler-Smith, Chris; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Brooks, Lisa D.; US National Institutes of Health, National Human Genome Research Institute, 5635 Fishers Lane, Bethesda, Maryland 20892, USA.; Felsenfeld, Adam L.; US National Institutes of Health, National Human Genome Research Institute, 5635 Fishers Lane, Bethesda, Maryland 20892, USA.; McEwen, Jean E.; US National Institutes of Health, National Human Genome Research Institute, 5635 Fishers Lane, Bethesda, Maryland 20892, USA.; Abdallah, Assya; The George Washington University School of Medicine and Health Sciences, Washington DC 20037, USA.; Juenger, Christopher R.; US Food and Drug Administration, 11400 Rockville Pike, Rockville, Maryland 20857, USA.; Clemm, Nicholas C.; US National Institutes of Health, National Human Genome Research Institute, 5635 Fishers Lane, Bethesda, Maryland 20892, USA.; Collins, Francis S.; US National Institutes of Health, 1 Center Drive, Bethesda, Maryland 20892, USA.; Duncanson, Audrey; Wellcome Trust, Gibbs Building, 215 Euston Road, London NW1 2BE, UK.; Green, Eric D.; US National Institutes of Health, National Human Genome Research Institute, 31 Center Drive, Bethesda, Maryland 20892, USA.; Guyer, Mark S.; US National Institutes of Health, National Human Genome Research Institute, 5635 Fishers Lane, Bethesda, Maryland 20892, USA.; Peterson, Jane L.; US National Institutes of Health, National Human Genome Research Institute, 5635 Fishers Lane, Bethesda, Maryland 20892, USA.; Schafer, Alan J.; Wellcome Trust, Gibbs Building, 215 Euston Road, London NW1 2BE, UK.; Abecasis, Gonçalo R.; Center for Statistical Genetics and Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.; Altshuler, David; The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Genetics, Harvard Medical School, Cambridge, Massachusetts 02115, USA.; Auton, Adam; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.; Brooks, Lisa D.; US National Institutes of Health, National Human Genome Research Institute, 5635 Fishers Lane, Bethesda, Maryland 20892, USA.; Durbin, Richard M.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; Gibbs, Richard A.; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA.; Hurles, Matt E.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.; McVean, Gil A.; Department of Statistics, University of Oxford, Oxford OX1 3TG, UK.
Журнал:
Nature
Дата:
2010
Аннотация:
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two motherâ fatherâ child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data set. On average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders. We demonstrate how these results can be used to inform association and functional studies. From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10<sup>â 8</sup> per base pair per generation. We explore the data with regard to signatures of natural selection, and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked sites. These methods and public data will support the next phase of human genetic research.
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Amin, Najaf; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Bragg-Gresham, Jennifer L.; Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan 48103, USA.; Teumer, Alexander; Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald, 17487 Greifswald, Germany.; Glazer, Nicole L.; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology and Health Services, University of Washington, Seattle, Washington 98101, USA.; Launer, Lenore; Laboratory of Epidemiology, Demography, Biometry, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.; Hua Zhao, Jing; MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.; Aulchenko, Yurii; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Heath, Simon; Centre National de Génotypage, Commissariat à Lâ Energie Atomique, Institut de Génomique, 91057 Evry, France.; Sõber, Siim; Institute of Molecular and Cell Biology, University of Tartu, Riia 23, Tartu 51010, Estonia.; Luan, Jianâ an; MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.; Dehghan, Abbas; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.; Netherlands Consortium for Healthy Aging (NCHA), Netherland Genome Initiative (NGI), Erasmus 3000 CA Rotterdam, The Netherlands.; Chambers, John C.; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, Norfolk Place, London W2 1PG, UK.; Shaw-Hawkins, Sue; Clinical Pharmacology and The Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.; Org, Elin; Institute of Molecular and Cell Biology, University of Tartu, Riia 23, Tartu 51010, Estonia.; Aspelund, Thor; Icelandic Heart Association, 201 Kópavogur, Iceland.; University of Iceland, 101 Reykajvik, Iceland.; Garcia, Melissa; Laboratory of Epidemiology, Demography, Biometry, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.; Bis, Joshua C.; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology and Health Services, University of Washington, Seattle, Washington 98101, USA.; Lee, Nanette R.; Office of Population Studies Foundation, University of San Carlos, Talamban, Cebu City 6000, Philippines.; Peltonen, Leena; ;;;; Burton, Paul R.; Department of Health Sciences, University of Leicester, University Rd, Leicester LE1 7RH, UK.; Soler Artigas, Maria; Department of Health Sciences, University of Leicester, University Rd, Leicester LE1 7RH, UK.; Smith, Nicholas L.; ;; Veldre, Gudrun; Institute of Molecular and Cell Biology, University of Tartu, Riia 23, Tartu 51010, Estonia.; Department of Cardiology, University of Tartu, L. Puusepa 8, 51014 Tartu, Estonia.; Viigimaa, Margus; Tallinn University of Technology, Institute of Biomedical Engineering, Ehitajate tee 5, 19086 Tallinn, Estonia.; Centre of Cardiology, North Estonia Medical Centre, Sütiste tee 19, 13419 Tallinn, Estonia.; Forrester, Terrence; Tropical Medicine Research Institute, University of the West Indies, Mona, Kingston, Jamaica.; McKenzie, Colin A.; Tropical Medicine Research Institute, University of the West Indies, Mona, Kingston, Jamaica.; Salako, Tunde; University of Ibadan, 200284 Ibadan, Nigeria.; Eyheramendy, Susana; Department of Statistics, Pontificia Universidad Catolica de Chile, Vicuña Mackena 4860, Santiago, Chile.; Wichmann, H.-Erich; ;; Zhang, Weihua; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, Norfolk Place, London W2 1PG, UK.; Oâ Donnell, Christopher J.; ;; Arfan Ikram, M.; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Netherlands Consortium for Healthy Aging (NCHA), Netherland Genome Initiative (NGI), Erasmus 3000 CA Rotterdam, The Netherlands.; Shrine, Nick R.G.; Department of Health Sciences, University of Leicester, University Rd, Leicester LE1 7RH, UK.; Wain, Louise V.; Department of Health Sciences, University of Leicester, University Rd, Leicester LE1 7RH, UK.; Hofman, Albert; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Mattace-Raso, Francesco U. S.; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.; Demirkan, Ayse; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Isaacs, Aaron; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Rivadeneira, Fernando; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.; Ala-Korpela, Mika; ;; Tukiainen, Taru; ;; Würtz, Peter; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, Norfolk Place, London W2 1PG, UK.;; Twee-Hee Ong, Rick; ;; Völker, Uwe; Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-University Greifswald, 17487 Greifswald, Germany.; Lathrop, Mark; Centre National de Génotypage, Commissariat à Lâ Energie Atomique, Institut de Génomique, 91057 Evry, France.; Zelenika, Diana; Centre National de Génotypage, Commissariat à Lâ Energie Atomique, Institut de Génomique, 91057 Evry, France.; Terzic, Janos; Faculty of Medicine, University of Split, 21000 Split, Croatia.; Zukowska-Szczechowska, Ewa; Department of Internal Medicine, Diabetology, and Nephrology, Medical University of Silesia, 41-800, Zabrze, Poland.; Polasek, Ozren; Department of Medical Statistics, Epidemiology and Medical Informatics, Andrija Stampar School of Public Health, University of Zagreb, 10000 Zagreb, Croatia.; Laan, Maris; Institute of Molecular and Cell Biology, University of Tartu, Riia 23, Tartu 51010, Estonia.; Shyong Tai, E; ;; Harris, Tamara B.; Laboratory of Epidemiology, Demography, Biometry, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.; Ridker, Paul M; ;; Tuomilehto, Jaakko; ;;; Sijbrands, Eric J. G.; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.; Loos, Ruth J. F.; MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.; Uitterlinden, Andre G.; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.; Netherlands Consortium for Healthy Aging (NCHA), Netherland Genome Initiative (NGI), Erasmus 3000 CA Rotterdam, The Netherlands.; Wareham, Nicholas J.; MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.; Gudnason, Vilmundur; Icelandic Heart Association, 201 Kópavogur, Iceland.; University of Iceland, 101 Reykajvik, Iceland.; Witteman, Jacqueline C. M.; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Netherlands Consortium for Healthy Aging (NCHA), Netherland Genome Initiative (NGI), Erasmus 3000 CA Rotterdam, The Netherlands.; Järvelin, Marjo-Riitta; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, Norfolk Place, London W2 1PG, UK.;;;; Psaty, Bruce M.; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology and Health Services, University of Washington, Seattle, Washington 98101, USA.;; Abecasis, Gonçalo R.; Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan 48103, USA.; Elliott, Paul; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, Norfolk Place, London W2 1PG, UK.;; van Duijn, Cornelia M.; Department of Epidemiology, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.; Centre of Medical Systems Biology (CMSB 1-2), NGI Erasmus Medical Center, Rotterdam, The Netherlands.; Newton-Cheh, Christopher; ;; Levy, Daniel; ;; Center for Population Studies, National Heart Lung, and Blood Institute, Bethesda, Maryland 20824, USA.; Caulfield, Mark J.; Clinical Pharmacology and The Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.; Johnson, Toby; Clinical Pharmacology and The Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK. (Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved., 2011)