An integrated map of genetic variation from 1,092 human genomes

David M. Altshuler, Richard M. Durbin, Gonçalo R. Abecasis, David R. Bentley, Aravinda Chakravarti, Andrew G. Clark, Peter Donnelly, Evan E. Eichler, Paul Flicek, Stacey B. Gabriel, Richard A. Gibbs, Eric D. Green, Matthew E. Hurles, Bartha M. Knoppers, Jan O. Korbel, Eric S. Lander, Charles Lee, Hans Lehrach, Elaine R. Mardis, Gabor T. MarthGil A. McVean, Deborah A. Nickerson, Jeanette P. Schmidt, Stephen T. Sherry, Jun Wang, Richard K. Wilson, Huyen Dinh, Christie Kovar, Sandra Lee, Lora Lewis, Donna Muzny, Jeff Reid, Min Wang, Xiaodong Fang, Xiaosen Guo, Min Jian, Hui Jiang, Xin Jin, Guoqing Li, Jingxiang Li, Yingrui Li, Zhuo Li, Xiao Liu, Yao Lu, Xuedi Ma, Zhe Su, Shuaishuai Tai, Meifang Tang, Bo Wang, Guangbiao Wang, Honglong Wu, Renhua Wu, Ye Yin, Wenwei Zhang, Jiao Zhao, Meiru Zhao, Xiaole Zheng, Yan Zhou, Namrata Gupta, Laura Clarke, Rasko Leinonen, Richard E. Smith, Xiangqun Zheng-Bradley, Russell Grocock, Sean Humphray, Terena James, Zoya Kingsbury, Ralf Sudbrak, Marcus W. Albrecht, Vyacheslav S. Amstislavskiy, Tatiana A. Borodina, Matthias Lienhard, Florian Mertes, Marc Sultan, Bernd Timmermann, Marie Laure Yaspo, Lucinda Fulton, Robert Fulton, George M. Weinstock, Senduran Balasubramaniam, John Burton, Petr Danecek, Thomas M. Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael Quail, Christopher J. Davies, Jeremy Gollub, Teresa Webster, Brant Wong, Yiping Zhan, Adam Auton, Fuli Yu, Matthew Bainbridge, Danny Challis, Uday S. Evani, James Lu, Uma Nagaswamy, Aniko Sabo, Yi Wang, Jin Yu, Lachlan J.M. Coin, Lin Fang, Qibin Li, Zhenyu Li, Haoxiang Lin, Binghang Liu, Ruibang Luo, Nan Qin, Haojing Shao, Bingqiang Wang, Yinlong Xie, Chen Ye, Chang Yu, Fan Zhang, Hancheng Zheng, Hongmei Zhu, Erik P. Garrison, Deniz Kural, Wan Ping Lee, Wen Fung Leong, Alistair N. Ward, Jiantao Wu, Mengyao Zhang, Lauren Griffin, Chih Heng Hsieh, Ryan E. Mills, Xinghua Shi, Marcin Von Grotthuss, Chengsheng Zhang, Mark J. Daly, Mark A. Depristo, Eric Banks, Gaurav Bhatia, Mauricio O. Carneiro, Guillermo Del Angel, Giulio Genovese, Robert E. Handsaker, Chris Hartl, Steven A. McCarroll, James C. Nemesh, Ryan E. Poplin, Stephen F. Schaffner, Khalid Shakir, Seungtai C. Yoon, Jayon Lihm, Vladimir Makarov, Hanjun Jin, Wook Kim, Ki Cheol Kim, Tobias Rausch, Kathryn Beal, Fiona Cunningham, Javier Herrero, William M. McLaren, Graham R.S. Ritchie, Srikanth Gottipati, Alon Keinan, Juan L. Rodriguez-Flores, Pardis C. Sabeti, Sharon R. Grossman, Shervin Tabrizi, Ridhi Tariyal, David N. Cooper, Edward V. Ball, Peter D. Stenson, Bret Barnes, Markus Bauer, R. Keira Cheetham, Tony Cox, Michael Eberle, Scott Kahn, Lisa Murray, John Peden, Richard Shaw, Kai Ye, Mark A. Batzer, Miriam K. Konkel, Jerilyn A. Walker, Daniel G. MacArthur, Monkol Lek, Ralf Herwig, Mark Shriver, Carlos D. Bustamante, Jake K. Byrnes, Francisco M. De La Vega, Simon Gravel, Eimear E. Kenny, Jeffrey M. Kidd, Brian K. Maples, Andres Moreno-Estrada, Fouad Zakharia, Eran Halperin, Yael Baran, David W. Craig, Alexis Christoforides, Nils Homer, Tyler Izatt, Ahmet A. Kurdoglu, Shripad A. Sinari, Kevin Squire, Chunlin Xiao, Jonathan Sebat, Vineet Bafna, Kenny Ye, Esteban G. Burchard, Ryan D. Hernandez, Christopher R. Gignoux, David Haussler, Sol J. Katzman, W. James Kent, Bryan Howie, Andres Ruiz-Linares, Emmanouil T. Dermitzakis, Tuuli Lappalainen, Scott E. Devine, Xinyue Liu, Ankit Maroo, Luke J. Tallon, Jeffrey A. Rosenfeld, Leslie P. Michelson, Hyun Min Kang, Paul Anderson, Andrea Angius, Abigail Bigham, Tom Blackwell, Fabio Busonero, Francesco Cucca, Christian Fuchsberger, Chris Jones, Goo Jun, Yun Li, Robert Lyons, Andrea Maschio, Eleonora Porcu, Fred Reinier, Serena Sanna, David Schlessinger, Carlo Sidore, Adrian Tan, Mary Kate Trost, Philip Awadalla, Alan Hodgkinson, Gerton Lunter, Jonathan L. Marchini, Simon Myers, Claire Churchhouse, Olivier Delaneau, Anjali Gupta-Hinch, Zamin Iqbal, Iain Mathieson, Andy Rimmer, Dionysia K. Xifara, Taras K. Oleksyk, Yunxin Fu, Xiaoming Liu, Momiao Xiong, Lynn Jorde, David Witherspoon, Jinchuan Xing, Brian L. Browning, Can Alkan, Iman Hajirasouliha, Fereydoun Hormozdiari, Arthur Ko, Peter H. Sudmant, Ken Chen, Asif Chinwalla, Li Ding, David Dooling, Daniel C. Koboldt, Michael D. McLellan, John W. Wallis, Michael C. Wendl, Qunyuan Zhang, Chris Tyler-Smith, Cornelis A. Albers, Qasim Ayub, Yuan Chen, Alison J. Coffey, Vincenza Colonna, Ni Huang, Luke Jostins, Heng Li, Aylwyn Scally, Klaudia Walter, Yali Xue, Yujun Zhang, Mark B. Gerstein, Alexej Abyzov, Suganthi Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, Lukas Habegger, Arif O. Harmanci, Mike Jin, Ekta Khurana, Xinmeng Jasmine Mu, Cristina Sisu, Jeremiah Degenhardt, Adrian M. Stütz, R. Keira Cheetham, Deanna Church, Jacob J. Michaelson, Ben Blackburne, Sarah J. Lindsay, Zemin Ning, Adam Frankish, Jennifer Harrow, Xinmeng Jasmine Mu, Gerald Fowler, Walker Hale, Divya Kalra, Jonathan Barker, Gavin Kelman, Eugene Kulesha, Rajesh Radhakrishnan, Asier Roa, Dmitriy Smirnov, Ian Streeter, Iliana Toneva, Brendan Vaughan, Victor Ananiev, Zinaida Belaia, Dimitriy Beloslyudtsev, Nathan Bouk, Chao Chen, Robert Cohen, Charles Cook, John Garner, Timothy Hefferon, Mikhail Kimelman, Chunlei Liu, John Lopez, Peter Meric, Chris O'Sullivan, Yuri Ostapchuk, Lon Phan, Sergiy Ponomarov, Valerie Schneider, Eugene Shekhtman, Karl Sirotkin, Douglas Slotta, Hua Zhang, Kathleen C. Barnes, Christine Beiswanger, Hongyu Cai, Hongzhi Cao, Neda Gharani, Brenna Henn, Danielle Jones, Jane S. Kaye, Alastair Kent, Angeliki Kerasidou, Rasika Mathias, Pilar N. Ossorio, Michael Parker, David Reich, Charles N. Rotimi, Charmaine D. Royal, Karla Sandoval, Yeyang Su, Zhongming Tian, Sarah Tishkoff, Lorraine H. Toji, Marc Via, Yuhong Wang, Huanming Yang, Ling Yang, Jiayong Zhu, Walter Bodmer, Gabriel Bedoya, Cai Zhi Ming, Gao Yang, Chu Jia You, Leena Peltonen, Andres Garcia-Montero, Alberto Orfao, Julie Dutil, Juan C. Martinez-Cruzado, Lisa D. Brooks, Adam L. Felsenfeld, Jean E. McEwen, Nicholas C. Clemm, Audrey Duncanson, Michael Dunn, Mark S. Guyer, Jane L. Peterson, Phil Lacroute

Research output: Contribution to journalArticle

4411 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)56-65
Number of pages10
JournalNature
Volume491
Issue number7422
DOIs
StatePublished - Nov 1 2012

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Human Genome
Genome
Population
Single Nucleotide Polymorphism
Exome
Information Storage and Retrieval
Medical Genetics
Haplotypes
Transcription Factors
Binding Sites

All Science Journal Classification (ASJC) codes

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Cite this

Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., ... Lacroute, P. (2012). An integrated map of genetic variation from 1,092 human genomes. Nature, 491(7422), 56-65. https://doi.org/10.1038/nature11632
Altshuler, David M. ; Durbin, Richard M. ; Abecasis, Gonçalo R. ; Bentley, David R. ; Chakravarti, Aravinda ; Clark, Andrew G. ; Donnelly, Peter ; Eichler, Evan E. ; Flicek, Paul ; Gabriel, Stacey B. ; Gibbs, Richard A. ; Green, Eric D. ; Hurles, Matthew E. ; Knoppers, Bartha M. ; Korbel, Jan O. ; Lander, Eric S. ; Lee, Charles ; Lehrach, Hans ; Mardis, Elaine R. ; Marth, Gabor T. ; McVean, Gil A. ; Nickerson, Deborah A. ; Schmidt, Jeanette P. ; Sherry, Stephen T. ; Wang, Jun ; Wilson, Richard K. ; Dinh, Huyen ; Kovar, Christie ; Lee, Sandra ; Lewis, Lora ; Muzny, Donna ; Reid, Jeff ; Wang, Min ; Fang, Xiaodong ; Guo, Xiaosen ; Jian, Min ; Jiang, Hui ; Jin, Xin ; Li, Guoqing ; Li, Jingxiang ; Li, Yingrui ; Li, Zhuo ; Liu, Xiao ; Lu, Yao ; Ma, Xuedi ; Su, Zhe ; Tai, Shuaishuai ; Tang, Meifang ; Wang, Bo ; Wang, Guangbiao ; Wu, Honglong ; Wu, Renhua ; Yin, Ye ; Zhang, Wenwei ; Zhao, Jiao ; Zhao, Meiru ; Zheng, Xiaole ; Zhou, Yan ; Gupta, Namrata ; Clarke, Laura ; Leinonen, Rasko ; Smith, Richard E. ; Zheng-Bradley, Xiangqun ; Grocock, Russell ; Humphray, Sean ; James, Terena ; Kingsbury, Zoya ; Sudbrak, Ralf ; Albrecht, Marcus W. ; Amstislavskiy, Vyacheslav S. ; Borodina, Tatiana A. ; Lienhard, Matthias ; Mertes, Florian ; Sultan, Marc ; Timmermann, Bernd ; Yaspo, Marie Laure ; Fulton, Lucinda ; Fulton, Robert ; Weinstock, George M. ; Balasubramaniam, Senduran ; Burton, John ; Danecek, Petr ; Keane, Thomas M. ; Kolb-Kokocinski, Anja ; McCarthy, Shane ; Stalker, James ; Quail, Michael ; Davies, Christopher J. ; Gollub, Jeremy ; Webster, Teresa ; Wong, Brant ; Zhan, Yiping ; Auton, Adam ; Yu, Fuli ; Bainbridge, Matthew ; Challis, Danny ; Evani, Uday S. ; Lu, James ; Nagaswamy, Uma ; Sabo, Aniko ; Wang, Yi ; Yu, Jin ; Coin, Lachlan J.M. ; Fang, Lin ; Li, Qibin ; Li, Zhenyu ; Lin, Haoxiang ; Liu, Binghang ; Luo, Ruibang ; Qin, Nan ; Shao, Haojing ; Wang, Bingqiang ; Xie, Yinlong ; Ye, Chen ; Yu, Chang ; Zhang, Fan ; Zheng, Hancheng ; Zhu, Hongmei ; Garrison, Erik P. ; Kural, Deniz ; Lee, Wan Ping ; Fung Leong, Wen ; Ward, Alistair N. ; Wu, Jiantao ; Zhang, Mengyao ; Griffin, Lauren ; Hsieh, Chih Heng ; Mills, Ryan E. ; Shi, Xinghua ; Von Grotthuss, Marcin ; Zhang, Chengsheng ; Daly, Mark J. ; Depristo, Mark A. ; Banks, Eric ; Bhatia, Gaurav ; Carneiro, Mauricio O. ; Del Angel, Guillermo ; Genovese, Giulio ; Handsaker, Robert E. ; Hartl, Chris ; McCarroll, Steven A. ; Nemesh, James C. ; Poplin, Ryan E. ; Schaffner, Stephen F. ; Shakir, Khalid ; Yoon, Seungtai C. ; Lihm, Jayon ; Makarov, Vladimir ; Jin, Hanjun ; Kim, Wook ; Cheol Kim, Ki ; Rausch, Tobias ; Beal, Kathryn ; Cunningham, Fiona ; Herrero, Javier ; McLaren, William M. ; Ritchie, Graham R.S. ; Gottipati, Srikanth ; Keinan, Alon ; Rodriguez-Flores, Juan L. ; Sabeti, Pardis C. ; Grossman, Sharon R. ; Tabrizi, Shervin ; Tariyal, Ridhi ; Cooper, David N. ; Ball, Edward V. ; Stenson, Peter D. ; Barnes, Bret ; Bauer, Markus ; Keira Cheetham, R. ; Cox, Tony ; Eberle, Michael ; Kahn, Scott ; Murray, Lisa ; Peden, John ; Shaw, Richard ; Ye, Kai ; Batzer, Mark A. ; Konkel, Miriam K. ; Walker, Jerilyn A. ; MacArthur, Daniel G. ; Lek, Monkol ; Herwig, Ralf ; Shriver, Mark ; Bustamante, Carlos D. ; Byrnes, Jake K. ; De La Vega, Francisco M. ; Gravel, Simon ; Kenny, Eimear E. ; Kidd, Jeffrey M. ; Maples, Brian K. ; Moreno-Estrada, Andres ; Zakharia, Fouad ; Halperin, Eran ; Baran, Yael ; Craig, David W. ; Christoforides, Alexis ; Homer, Nils ; Izatt, Tyler ; Kurdoglu, Ahmet A. ; Sinari, Shripad A. ; Squire, Kevin ; Xiao, Chunlin ; Sebat, Jonathan ; Bafna, Vineet ; Ye, Kenny ; Burchard, Esteban G. ; Hernandez, Ryan D. ; Gignoux, Christopher R. ; Haussler, David ; Katzman, Sol J. ; James Kent, W. ; Howie, Bryan ; Ruiz-Linares, Andres ; Dermitzakis, Emmanouil T. ; Lappalainen, Tuuli ; Devine, Scott E. ; Liu, Xinyue ; Maroo, Ankit ; Tallon, Luke J. ; Rosenfeld, Jeffrey A. ; Michelson, Leslie P. ; Min Kang, Hyun ; Anderson, Paul ; Angius, Andrea ; Bigham, Abigail ; Blackwell, Tom ; Busonero, Fabio ; Cucca, Francesco ; Fuchsberger, Christian ; Jones, Chris ; Jun, Goo ; Li, Yun ; Lyons, Robert ; Maschio, Andrea ; Porcu, Eleonora ; Reinier, Fred ; Sanna, Serena ; Schlessinger, David ; Sidore, Carlo ; Tan, Adrian ; Kate Trost, Mary ; Awadalla, Philip ; Hodgkinson, Alan ; Lunter, Gerton ; Marchini, Jonathan L. ; Myers, Simon ; Churchhouse, Claire ; Delaneau, Olivier ; Gupta-Hinch, Anjali ; Iqbal, Zamin ; Mathieson, Iain ; Rimmer, Andy ; Xifara, Dionysia K. ; Oleksyk, Taras K. ; Fu, Yunxin ; Liu, Xiaoming ; Xiong, Momiao ; Jorde, Lynn ; Witherspoon, David ; Xing, Jinchuan ; Browning, Brian L. ; Alkan, Can ; Hajirasouliha, Iman ; Hormozdiari, Fereydoun ; Ko, Arthur ; Sudmant, Peter H. ; Chen, Ken ; Chinwalla, Asif ; Ding, Li ; Dooling, David ; Koboldt, Daniel C. ; McLellan, Michael D. ; Wallis, John W. ; Wendl, Michael C. ; Zhang, Qunyuan ; Tyler-Smith, Chris ; Albers, Cornelis A. ; Ayub, Qasim ; Chen, Yuan ; Coffey, Alison J. ; Colonna, Vincenza ; Huang, Ni ; Jostins, Luke ; Li, Heng ; Scally, Aylwyn ; Walter, Klaudia ; Xue, Yali ; Zhang, Yujun ; Gerstein, Mark B. ; Abyzov, Alexej ; Balasubramanian, Suganthi ; Chen, Jieming ; Clarke, Declan ; Fu, Yao ; Habegger, Lukas ; Harmanci, Arif O. ; Jin, Mike ; Khurana, Ekta ; Jasmine Mu, Xinmeng ; Sisu, Cristina ; Degenhardt, Jeremiah ; Stütz, Adrian M. ; Keira Cheetham, R. ; Church, Deanna ; Michaelson, Jacob J. ; Blackburne, Ben ; Lindsay, Sarah J. ; Ning, Zemin ; Frankish, Adam ; Harrow, Jennifer ; Mu, Xinmeng Jasmine ; Fowler, Gerald ; Hale, Walker ; Kalra, Divya ; Barker, Jonathan ; Kelman, Gavin ; Kulesha, Eugene ; Radhakrishnan, Rajesh ; Roa, Asier ; Smirnov, Dmitriy ; Streeter, Ian ; Toneva, Iliana ; Vaughan, Brendan ; Ananiev, Victor ; Belaia, Zinaida ; Beloslyudtsev, Dimitriy ; Bouk, Nathan ; Chen, Chao ; Cohen, Robert ; Cook, Charles ; Garner, John ; Hefferon, Timothy ; Kimelman, Mikhail ; Liu, Chunlei ; Lopez, John ; Meric, Peter ; O'Sullivan, Chris ; Ostapchuk, Yuri ; Phan, Lon ; Ponomarov, Sergiy ; Schneider, Valerie ; Shekhtman, Eugene ; Sirotkin, Karl ; Slotta, Douglas ; Zhang, Hua ; Barnes, Kathleen C. ; Beiswanger, Christine ; Cai, Hongyu ; Cao, Hongzhi ; Gharani, Neda ; Henn, Brenna ; Jones, Danielle ; Kaye, Jane S. ; Kent, Alastair ; Kerasidou, Angeliki ; Mathias, Rasika ; Ossorio, Pilar N. ; Parker, Michael ; Reich, David ; Rotimi, Charles N. ; Royal, Charmaine D. ; Sandoval, Karla ; Su, Yeyang ; Tian, Zhongming ; Tishkoff, Sarah ; Toji, Lorraine H. ; Via, Marc ; Wang, Yuhong ; Yang, Huanming ; Yang, Ling ; Zhu, Jiayong ; Bodmer, Walter ; Bedoya, Gabriel ; Ming, Cai Zhi ; Yang, Gao ; Jia You, Chu ; Peltonen, Leena ; Garcia-Montero, Andres ; Orfao, Alberto ; Dutil, Julie ; Martinez-Cruzado, Juan C. ; Brooks, Lisa D. ; Felsenfeld, Adam L. ; McEwen, Jean E. ; Clemm, Nicholas C. ; Duncanson, Audrey ; Dunn, Michael ; Guyer, Mark S. ; Peterson, Jane L. ; Lacroute, Phil. / An integrated map of genetic variation from 1,092 human genomes. In: Nature. 2012 ; Vol. 491, No. 7422. pp. 56-65.
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abstract = "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.",
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Wenwei Zhang and Jiao Zhao and Meiru Zhao and Xiaole Zheng and Yan Zhou and Namrata Gupta and Laura Clarke and Rasko Leinonen and Smith, {Richard E.} and Xiangqun Zheng-Bradley and Russell Grocock and Sean Humphray and Terena James and Zoya Kingsbury and Ralf Sudbrak and Albrecht, {Marcus W.} and Amstislavskiy, {Vyacheslav S.} and Borodina, {Tatiana A.} and Matthias Lienhard and Florian Mertes and Marc Sultan and Bernd Timmermann and Yaspo, {Marie Laure} and Lucinda Fulton and Robert Fulton and Weinstock, {George M.} and Senduran Balasubramaniam and John Burton and Petr Danecek and Keane, {Thomas M.} and Anja Kolb-Kokocinski and Shane McCarthy and James Stalker and Michael Quail and Davies, {Christopher J.} and Jeremy Gollub and Teresa Webster and Brant Wong and Yiping Zhan and Adam Auton and Fuli Yu and Matthew Bainbridge and Danny Challis and Evani, {Uday S.} and James Lu and Uma Nagaswamy and Aniko Sabo and Yi Wang and Jin Yu and Coin, {Lachlan J.M.} and Lin Fang and Qibin Li and Zhenyu Li and Haoxiang Lin and Binghang Liu and Ruibang Luo and Nan Qin and Haojing Shao and Bingqiang Wang and Yinlong Xie and Chen Ye and Chang Yu and Fan Zhang and Hancheng Zheng and Hongmei Zhu and Garrison, {Erik P.} and Deniz Kural and Lee, {Wan Ping} and {Fung Leong}, Wen and Ward, {Alistair N.} and Jiantao Wu and Mengyao Zhang and Lauren Griffin and Hsieh, {Chih Heng} and Mills, {Ryan E.} and Xinghua Shi and {Von Grotthuss}, Marcin and Chengsheng Zhang and Daly, {Mark J.} and Depristo, {Mark A.} and Eric Banks and Gaurav Bhatia and Carneiro, {Mauricio O.} and {Del Angel}, Guillermo and Giulio Genovese and Handsaker, {Robert E.} and Chris Hartl and McCarroll, {Steven A.} and Nemesh, {James C.} and Poplin, {Ryan E.} and Schaffner, {Stephen F.} and Khalid Shakir and Yoon, {Seungtai C.} and Jayon Lihm and Vladimir Makarov and Hanjun Jin and Wook Kim and {Cheol Kim}, Ki and Tobias Rausch and Kathryn Beal and Fiona Cunningham and Javier Herrero and McLaren, {William M.} and Ritchie, {Graham R.S.} and Srikanth Gottipati and Alon Keinan and Rodriguez-Flores, {Juan L.} and Sabeti, {Pardis C.} and Grossman, {Sharon R.} and Shervin Tabrizi and Ridhi Tariyal and Cooper, {David N.} and Ball, {Edward V.} and Stenson, {Peter D.} and Bret Barnes and Markus Bauer and {Keira Cheetham}, R. and Tony Cox and Michael Eberle and Scott Kahn and Lisa Murray and John Peden and Richard Shaw and Kai Ye and Batzer, {Mark A.} and Konkel, {Miriam K.} and Walker, {Jerilyn A.} and MacArthur, {Daniel G.} and Monkol Lek and Ralf Herwig and Mark Shriver and Bustamante, {Carlos D.} and Byrnes, {Jake K.} and {De La Vega}, {Francisco M.} and Simon Gravel and Kenny, {Eimear E.} and Kidd, {Jeffrey M.} and Maples, {Brian K.} and Andres Moreno-Estrada and Fouad Zakharia and Eran Halperin and Yael Baran and Craig, {David W.} and Alexis Christoforides and Nils Homer and Tyler Izatt and Kurdoglu, {Ahmet A.} and Sinari, {Shripad A.} and Kevin Squire and Chunlin Xiao and Jonathan Sebat and Vineet Bafna and Kenny Ye and Burchard, {Esteban G.} and Hernandez, {Ryan D.} and Gignoux, {Christopher R.} and David Haussler and Katzman, {Sol J.} and {James Kent}, W. and Bryan Howie and Andres Ruiz-Linares and Dermitzakis, {Emmanouil T.} and Tuuli Lappalainen and Devine, {Scott E.} and Xinyue Liu and Ankit Maroo and Tallon, {Luke J.} and Rosenfeld, {Jeffrey A.} and Michelson, {Leslie P.} and {Min Kang}, Hyun and Paul Anderson and Andrea Angius and Abigail Bigham and Tom Blackwell and Fabio Busonero and Francesco Cucca and Christian Fuchsberger and Chris Jones and Goo Jun and Yun Li and Robert Lyons and Andrea Maschio and Eleonora Porcu and Fred Reinier and Serena Sanna and David Schlessinger and Carlo Sidore and Adrian Tan and {Kate Trost}, Mary and Philip Awadalla and Alan Hodgkinson and Gerton Lunter and Marchini, {Jonathan L.} and Simon Myers and Claire Churchhouse and Olivier Delaneau and Anjali Gupta-Hinch and Zamin Iqbal and Iain Mathieson and Andy Rimmer and Xifara, {Dionysia K.} and Oleksyk, {Taras K.} and Yunxin Fu and Xiaoming Liu and Momiao Xiong and Lynn Jorde and David Witherspoon and Jinchuan Xing and Browning, {Brian L.} and Can Alkan and Iman Hajirasouliha and Fereydoun Hormozdiari and Arthur Ko and Sudmant, {Peter H.} and Ken Chen and Asif Chinwalla and Li Ding and David Dooling and Koboldt, {Daniel C.} and McLellan, {Michael D.} and Wallis, {John W.} and Wendl, {Michael C.} and Qunyuan Zhang and Chris Tyler-Smith and Albers, {Cornelis A.} and Qasim Ayub and Yuan Chen and Coffey, {Alison J.} and Vincenza Colonna and Ni Huang and Luke Jostins and Heng Li and Aylwyn Scally and Klaudia Walter and Yali Xue and Yujun Zhang and Gerstein, {Mark B.} and Alexej Abyzov and Suganthi Balasubramanian and Jieming Chen and Declan Clarke and Yao Fu and Lukas Habegger and Harmanci, {Arif O.} and Mike Jin and Ekta Khurana and {Jasmine Mu}, Xinmeng and Cristina Sisu and Jeremiah Degenhardt and St{\"u}tz, {Adrian M.} and {Keira Cheetham}, R. and Deanna Church and Michaelson, {Jacob J.} and Ben Blackburne and Lindsay, {Sarah J.} and Zemin Ning and Adam Frankish and Jennifer Harrow and Mu, {Xinmeng Jasmine} and Gerald Fowler and Walker Hale and Divya Kalra and Jonathan Barker and Gavin Kelman and Eugene Kulesha and Rajesh Radhakrishnan and Asier Roa and Dmitriy Smirnov and Ian Streeter and Iliana Toneva and Brendan Vaughan and Victor Ananiev and Zinaida Belaia and Dimitriy Beloslyudtsev and Nathan Bouk and Chao Chen and Robert Cohen and Charles Cook and John Garner and Timothy Hefferon and Mikhail Kimelman and Chunlei Liu and John Lopez and Peter Meric and Chris O'Sullivan and Yuri Ostapchuk and Lon Phan and Sergiy Ponomarov and Valerie Schneider and Eugene Shekhtman and Karl Sirotkin and Douglas Slotta and Hua Zhang and Barnes, {Kathleen C.} and Christine Beiswanger and Hongyu Cai and Hongzhi Cao and Neda Gharani and Brenna Henn and Danielle Jones and Kaye, {Jane S.} and Alastair Kent and Angeliki Kerasidou and Rasika Mathias and Ossorio, {Pilar N.} and Michael Parker and David Reich and Rotimi, {Charles N.} and Royal, {Charmaine D.} and Karla Sandoval and Yeyang Su and Zhongming Tian and Sarah Tishkoff and Toji, {Lorraine H.} and Marc Via and Yuhong Wang and Huanming Yang and Ling Yang and Jiayong Zhu and Walter Bodmer and Gabriel Bedoya and Ming, {Cai Zhi} and Gao Yang and {Jia You}, Chu and Leena Peltonen and Andres Garcia-Montero and Alberto Orfao and Julie Dutil and Martinez-Cruzado, {Juan C.} and Brooks, {Lisa D.} and Felsenfeld, {Adam L.} and McEwen, {Jean E.} and Clemm, {Nicholas C.} and Audrey Duncanson and Michael Dunn and Guyer, {Mark S.} and Peterson, {Jane L.} and Phil Lacroute",
year = "2012",
month = "11",
day = "1",
doi = "10.1038/nature11632",
language = "English (US)",
volume = "491",
pages = "56--65",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "7422",

}

Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, ML, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Yu, F, Bainbridge, M, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Sabo, A, Wang, Y, Yu, J, Coin, LJM, Fang, L, Li, Q, Li, Z, Lin, H, Liu, B, Luo, R, Qin, N, Shao, H, Wang, B, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Garrison, EP, Kural, D, Lee, WP, Fung Leong, W, Ward, AN, Wu, J, Zhang, M, Griffin, L, Hsieh, CH, Mills, RE, Shi, X, Von Grotthuss, M, Zhang, C, Daly, MJ, Depristo, MA, Banks, E, Bhatia, G, Carneiro, MO, Del Angel, G, Genovese, G, Handsaker, RE, Hartl, C, McCarroll, SA, Nemesh, JC, Poplin, RE, Schaffner, SF, Shakir, K, Yoon, SC, Lihm, J, Makarov, V, Jin, H, Kim, W, Cheol Kim, K, Rausch, T, Beal, K, Cunningham, F, Herrero, J, McLaren, WM, Ritchie, GRS, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Sabeti, PC, Grossman, SR, Tabrizi, S, Tariyal, R, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Keira Cheetham, R, Cox, T, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Ye, K, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Shriver, M, Bustamante, CD, Byrnes, JK, De La Vega, FM, Gravel, S, Kenny, EE, Kidd, JM, Maples, BK, Moreno-Estrada, A, Zakharia, F, Halperin, E, Baran, Y, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Bafna, V, Ye, K, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, James Kent, W, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Lappalainen, T, Devine, SE, Liu, X, Maroo, A, Tallon, LJ, Rosenfeld, JA, Michelson, LP, Min Kang, H, Anderson, P, Angius, A, Bigham, A, Blackwell, T, Busonero, F, Cucca, F, Fuchsberger, C, Jones, C, Jun, G, Li, Y, Lyons, R, Maschio, A, Porcu, E, Reinier, F, Sanna, S, Schlessinger, D, Sidore, C, Tan, A, Kate Trost, M, Awadalla, P, Hodgkinson, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Iqbal, Z, Mathieson, I, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Liu, X, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Alkan, C, Hajirasouliha, I, Hormozdiari, F, Ko, A, Sudmant, PH, Chen, K, Chinwalla, A, Ding, L, Dooling, D, Koboldt, DC, McLellan, MD, Wallis, JW, Wendl, MC, Zhang, Q, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Coffey, AJ, Colonna, V, Huang, N, Jostins, L, Li, H, Scally, A, Walter, K, Xue, Y, Zhang, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Fu, Y, Habegger, L, Harmanci, AO, Jin, M, Khurana, E, Jasmine Mu, X, Sisu, C, Degenhardt, J, Stütz, AM, Keira Cheetham, R, Church, D, Michaelson, JJ, Blackburne, B, Lindsay, SJ, Ning, Z, Frankish, A, Harrow, J, Mu, XJ, Fowler, G, Hale, W, Kalra, D, Barker, J, Kelman, G, Kulesha, E, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Toneva, I, Vaughan, B, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Reich, D, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Toji, LH, Via, M, Wang, Y, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Ming, CZ, Yang, G, Jia You, C, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Brooks, LD, Felsenfeld, AL, McEwen, JE, Clemm, NC, Duncanson, A, Dunn, M, Guyer, MS, Peterson, JL & Lacroute, P 2012, 'An integrated map of genetic variation from 1,092 human genomes', Nature, vol. 491, no. 7422, pp. 56-65. https://doi.org/10.1038/nature11632

An integrated map of genetic variation from 1,092 human genomes. / Altshuler, David M.; Durbin, Richard M.; Abecasis, Gonçalo R.; Bentley, David R.; Chakravarti, Aravinda; Clark, Andrew G.; Donnelly, Peter; Eichler, Evan E.; Flicek, Paul; Gabriel, Stacey B.; Gibbs, Richard A.; Green, Eric D.; Hurles, Matthew E.; Knoppers, Bartha M.; Korbel, Jan O.; Lander, Eric S.; Lee, Charles; Lehrach, Hans; Mardis, Elaine R.; Marth, Gabor T.; McVean, Gil A.; Nickerson, Deborah A.; Schmidt, Jeanette P.; Sherry, Stephen T.; Wang, Jun; Wilson, Richard K.; Dinh, Huyen; Kovar, Christie; Lee, Sandra; Lewis, Lora; Muzny, Donna; Reid, Jeff; Wang, Min; Fang, Xiaodong; Guo, Xiaosen; Jian, Min; Jiang, Hui; Jin, Xin; Li, Guoqing; Li, Jingxiang; Li, Yingrui; Li, Zhuo; Liu, Xiao; Lu, Yao; Ma, Xuedi; Su, Zhe; Tai, Shuaishuai; Tang, Meifang; Wang, Bo; Wang, Guangbiao; Wu, Honglong; Wu, Renhua; Yin, Ye; Zhang, Wenwei; Zhao, Jiao; Zhao, Meiru; Zheng, Xiaole; Zhou, Yan; Gupta, Namrata; Clarke, Laura; Leinonen, Rasko; Smith, Richard E.; Zheng-Bradley, Xiangqun; Grocock, Russell; Humphray, Sean; James, Terena; Kingsbury, Zoya; Sudbrak, Ralf; Albrecht, Marcus W.; Amstislavskiy, Vyacheslav S.; Borodina, Tatiana A.; Lienhard, Matthias; Mertes, Florian; Sultan, Marc; Timmermann, Bernd; Yaspo, Marie Laure; Fulton, Lucinda; Fulton, Robert; Weinstock, George M.; Balasubramaniam, Senduran; Burton, John; Danecek, Petr; Keane, Thomas M.; Kolb-Kokocinski, Anja; McCarthy, Shane; Stalker, James; Quail, Michael; Davies, Christopher J.; Gollub, Jeremy; Webster, Teresa; Wong, Brant; Zhan, Yiping; Auton, Adam; Yu, Fuli; Bainbridge, Matthew; Challis, Danny; Evani, Uday S.; Lu, James; Nagaswamy, Uma; Sabo, Aniko; Wang, Yi; Yu, Jin; Coin, Lachlan J.M.; Fang, Lin; Li, Qibin; Li, Zhenyu; Lin, Haoxiang; Liu, Binghang; Luo, Ruibang; Qin, Nan; Shao, Haojing; Wang, Bingqiang; Xie, Yinlong; Ye, Chen; Yu, Chang; Zhang, Fan; Zheng, Hancheng; Zhu, Hongmei; Garrison, Erik P.; Kural, Deniz; Lee, Wan Ping; Fung Leong, Wen; Ward, Alistair N.; Wu, Jiantao; Zhang, Mengyao; Griffin, Lauren; Hsieh, Chih Heng; Mills, Ryan E.; Shi, Xinghua; Von Grotthuss, Marcin; Zhang, Chengsheng; Daly, Mark J.; Depristo, Mark A.; Banks, Eric; Bhatia, Gaurav; Carneiro, Mauricio O.; Del Angel, Guillermo; Genovese, Giulio; Handsaker, Robert E.; Hartl, Chris; McCarroll, Steven A.; Nemesh, James C.; Poplin, Ryan E.; Schaffner, Stephen F.; Shakir, Khalid; Yoon, Seungtai C.; Lihm, Jayon; Makarov, Vladimir; Jin, Hanjun; Kim, Wook; Cheol Kim, Ki; Rausch, Tobias; Beal, Kathryn; Cunningham, Fiona; Herrero, Javier; McLaren, William M.; Ritchie, Graham R.S.; Gottipati, Srikanth; Keinan, Alon; Rodriguez-Flores, Juan L.; Sabeti, Pardis C.; Grossman, Sharon R.; Tabrizi, Shervin; Tariyal, Ridhi; Cooper, David N.; Ball, Edward V.; Stenson, Peter D.; Barnes, Bret; Bauer, Markus; Keira Cheetham, R.; Cox, Tony; Eberle, Michael; Kahn, Scott; Murray, Lisa; Peden, John; Shaw, Richard; Ye, Kai; Batzer, Mark A.; Konkel, Miriam K.; Walker, Jerilyn A.; MacArthur, Daniel G.; Lek, Monkol; Herwig, Ralf; Shriver, Mark; Bustamante, Carlos D.; Byrnes, Jake K.; De La Vega, Francisco M.; Gravel, Simon; Kenny, Eimear E.; Kidd, Jeffrey M.; Maples, Brian K.; Moreno-Estrada, Andres; Zakharia, Fouad; Halperin, Eran; Baran, Yael; Craig, David W.; Christoforides, Alexis; Homer, Nils; Izatt, Tyler; Kurdoglu, Ahmet A.; Sinari, Shripad A.; Squire, Kevin; Xiao, Chunlin; Sebat, Jonathan; Bafna, Vineet; Ye, Kenny; Burchard, Esteban G.; Hernandez, Ryan D.; Gignoux, Christopher R.; Haussler, David; Katzman, Sol J.; James Kent, W.; Howie, Bryan; Ruiz-Linares, Andres; Dermitzakis, Emmanouil T.; Lappalainen, Tuuli; Devine, Scott E.; Liu, Xinyue; Maroo, Ankit; Tallon, Luke J.; Rosenfeld, Jeffrey A.; Michelson, Leslie P.; Min Kang, Hyun; Anderson, Paul; Angius, Andrea; Bigham, Abigail; Blackwell, Tom; Busonero, Fabio; Cucca, Francesco; Fuchsberger, Christian; Jones, Chris; Jun, Goo; Li, Yun; Lyons, Robert; Maschio, Andrea; Porcu, Eleonora; Reinier, Fred; Sanna, Serena; Schlessinger, David; Sidore, Carlo; Tan, Adrian; Kate Trost, Mary; Awadalla, Philip; Hodgkinson, Alan; Lunter, Gerton; Marchini, Jonathan L.; Myers, Simon; Churchhouse, Claire; Delaneau, Olivier; Gupta-Hinch, Anjali; Iqbal, Zamin; Mathieson, Iain; Rimmer, Andy; Xifara, Dionysia K.; Oleksyk, Taras K.; Fu, Yunxin; Liu, Xiaoming; Xiong, Momiao; Jorde, Lynn; Witherspoon, David; Xing, Jinchuan; Browning, Brian L.; Alkan, Can; Hajirasouliha, Iman; Hormozdiari, Fereydoun; Ko, Arthur; Sudmant, Peter H.; Chen, Ken; Chinwalla, Asif; Ding, Li; Dooling, David; Koboldt, Daniel C.; McLellan, Michael D.; Wallis, John W.; Wendl, Michael C.; Zhang, Qunyuan; Tyler-Smith, Chris; Albers, Cornelis A.; Ayub, Qasim; Chen, Yuan; Coffey, Alison J.; Colonna, Vincenza; Huang, Ni; Jostins, Luke; Li, Heng; Scally, Aylwyn; Walter, Klaudia; Xue, Yali; Zhang, Yujun; Gerstein, Mark B.; Abyzov, Alexej; Balasubramanian, Suganthi; Chen, Jieming; Clarke, Declan; Fu, Yao; Habegger, Lukas; Harmanci, Arif O.; Jin, Mike; Khurana, Ekta; Jasmine Mu, Xinmeng; Sisu, Cristina; Degenhardt, Jeremiah; Stütz, Adrian M.; Keira Cheetham, R.; Church, Deanna; Michaelson, Jacob J.; Blackburne, Ben; Lindsay, Sarah J.; Ning, Zemin; Frankish, Adam; Harrow, Jennifer; Mu, Xinmeng Jasmine; Fowler, Gerald; Hale, Walker; Kalra, Divya; Barker, Jonathan; Kelman, Gavin; Kulesha, Eugene; Radhakrishnan, Rajesh; Roa, Asier; Smirnov, Dmitriy; Streeter, Ian; Toneva, Iliana; Vaughan, Brendan; Ananiev, Victor; Belaia, Zinaida; Beloslyudtsev, Dimitriy; Bouk, Nathan; Chen, Chao; Cohen, Robert; Cook, Charles; Garner, John; Hefferon, Timothy; Kimelman, Mikhail; Liu, Chunlei; Lopez, John; Meric, Peter; O'Sullivan, Chris; Ostapchuk, Yuri; Phan, Lon; Ponomarov, Sergiy; Schneider, Valerie; Shekhtman, Eugene; Sirotkin, Karl; Slotta, Douglas; Zhang, Hua; Barnes, Kathleen C.; Beiswanger, Christine; Cai, Hongyu; Cao, Hongzhi; Gharani, Neda; Henn, Brenna; Jones, Danielle; Kaye, Jane S.; Kent, Alastair; Kerasidou, Angeliki; Mathias, Rasika; Ossorio, Pilar N.; Parker, Michael; Reich, David; Rotimi, Charles N.; Royal, Charmaine D.; Sandoval, Karla; Su, Yeyang; Tian, Zhongming; Tishkoff, Sarah; Toji, Lorraine H.; Via, Marc; Wang, Yuhong; Yang, Huanming; Yang, Ling; Zhu, Jiayong; Bodmer, Walter; Bedoya, Gabriel; Ming, Cai Zhi; Yang, Gao; Jia You, Chu; Peltonen, Leena; Garcia-Montero, Andres; Orfao, Alberto; Dutil, Julie; Martinez-Cruzado, Juan C.; Brooks, Lisa D.; Felsenfeld, Adam L.; McEwen, Jean E.; Clemm, Nicholas C.; Duncanson, Audrey; Dunn, Michael; Guyer, Mark S.; Peterson, Jane L.; Lacroute, Phil.

In: Nature, Vol. 491, No. 7422, 01.11.2012, p. 56-65.

Research output: Contribution to journalArticle

TY - JOUR

T1 - An integrated map of genetic variation from 1,092 human genomes

AU - Altshuler, David M.

AU - Durbin, Richard M.

AU - Abecasis, Gonçalo R.

AU - Bentley, David R.

AU - Chakravarti, Aravinda

AU - Clark, Andrew G.

AU - Donnelly, Peter

AU - Eichler, Evan E.

AU - Flicek, Paul

AU - Gabriel, Stacey B.

AU - Gibbs, Richard A.

AU - Green, Eric D.

AU - Hurles, Matthew E.

AU - Knoppers, Bartha M.

AU - Korbel, Jan O.

AU - Lander, Eric S.

AU - Lee, Charles

AU - Lehrach, Hans

AU - Mardis, Elaine R.

AU - Marth, Gabor T.

AU - McVean, Gil A.

AU - Nickerson, Deborah A.

AU - Schmidt, Jeanette P.

AU - Sherry, Stephen T.

AU - Wang, Jun

AU - Wilson, Richard K.

AU - Dinh, Huyen

AU - Kovar, Christie

AU - Lee, Sandra

AU - Lewis, Lora

AU - Muzny, Donna

AU - Reid, Jeff

AU - Wang, Min

AU - Fang, Xiaodong

AU - Guo, Xiaosen

AU - Jian, Min

AU - Jiang, Hui

AU - Jin, Xin

AU - Li, Guoqing

AU - Li, Jingxiang

AU - Li, Yingrui

AU - Li, Zhuo

AU - Liu, Xiao

AU - Lu, Yao

AU - Ma, Xuedi

AU - Su, Zhe

AU - Tai, Shuaishuai

AU - Tang, Meifang

AU - Wang, Bo

AU - Wang, Guangbiao

AU - Wu, Honglong

AU - Wu, Renhua

AU - Yin, Ye

AU - Zhang, Wenwei

AU - Zhao, Jiao

AU - Zhao, Meiru

AU - Zheng, Xiaole

AU - Zhou, Yan

AU - Gupta, Namrata

AU - Clarke, Laura

AU - Leinonen, Rasko

AU - Smith, Richard E.

AU - Zheng-Bradley, Xiangqun

AU - Grocock, Russell

AU - Humphray, Sean

AU - James, Terena

AU - Kingsbury, Zoya

AU - Sudbrak, Ralf

AU - Albrecht, Marcus W.

AU - Amstislavskiy, Vyacheslav S.

AU - Borodina, Tatiana A.

AU - Lienhard, Matthias

AU - Mertes, Florian

AU - Sultan, Marc

AU - Timmermann, Bernd

AU - Yaspo, Marie Laure

AU - Fulton, Lucinda

AU - Fulton, Robert

AU - Weinstock, George M.

AU - Balasubramaniam, Senduran

AU - Burton, John

AU - Danecek, Petr

AU - Keane, Thomas M.

AU - Kolb-Kokocinski, Anja

AU - McCarthy, Shane

AU - Stalker, James

AU - Quail, Michael

AU - Davies, Christopher J.

AU - Gollub, Jeremy

AU - Webster, Teresa

AU - Wong, Brant

AU - Zhan, Yiping

AU - Auton, Adam

AU - Yu, Fuli

AU - Bainbridge, Matthew

AU - Challis, Danny

AU - Evani, Uday S.

AU - Lu, James

AU - Nagaswamy, Uma

AU - Sabo, Aniko

AU - Wang, Yi

AU - Yu, Jin

AU - Coin, Lachlan J.M.

AU - Fang, Lin

AU - Li, Qibin

AU - Li, Zhenyu

AU - Lin, Haoxiang

AU - Liu, Binghang

AU - Luo, Ruibang

AU - Qin, Nan

AU - Shao, Haojing

AU - Wang, Bingqiang

AU - Xie, Yinlong

AU - Ye, Chen

AU - Yu, Chang

AU - Zhang, Fan

AU - Zheng, Hancheng

AU - Zhu, Hongmei

AU - Garrison, Erik P.

AU - Kural, Deniz

AU - Lee, Wan Ping

AU - Fung Leong, Wen

AU - Ward, Alistair N.

AU - Wu, Jiantao

AU - Zhang, Mengyao

AU - Griffin, Lauren

AU - Hsieh, Chih Heng

AU - Mills, Ryan E.

AU - Shi, Xinghua

AU - Von Grotthuss, Marcin

AU - Zhang, Chengsheng

AU - Daly, Mark J.

AU - Depristo, Mark A.

AU - Banks, Eric

AU - Bhatia, Gaurav

AU - Carneiro, Mauricio O.

AU - Del Angel, Guillermo

AU - Genovese, Giulio

AU - Handsaker, Robert E.

AU - Hartl, Chris

AU - McCarroll, Steven A.

AU - Nemesh, James C.

AU - Poplin, Ryan E.

AU - Schaffner, Stephen F.

AU - Shakir, Khalid

AU - Yoon, Seungtai C.

AU - Lihm, Jayon

AU - Makarov, Vladimir

AU - Jin, Hanjun

AU - Kim, Wook

AU - Cheol Kim, Ki

AU - Rausch, Tobias

AU - Beal, Kathryn

AU - Cunningham, Fiona

AU - Herrero, Javier

AU - McLaren, William M.

AU - Ritchie, Graham R.S.

AU - Gottipati, Srikanth

AU - Keinan, Alon

AU - Rodriguez-Flores, Juan L.

AU - Sabeti, Pardis C.

AU - Grossman, Sharon R.

AU - Tabrizi, Shervin

AU - Tariyal, Ridhi

AU - Cooper, David N.

AU - Ball, Edward V.

AU - Stenson, Peter D.

AU - Barnes, Bret

AU - Bauer, Markus

AU - Keira Cheetham, R.

AU - Cox, Tony

AU - Eberle, Michael

AU - Kahn, Scott

AU - Murray, Lisa

AU - Peden, John

AU - Shaw, Richard

AU - Ye, Kai

AU - Batzer, Mark A.

AU - Konkel, Miriam K.

AU - Walker, Jerilyn A.

AU - MacArthur, Daniel G.

AU - Lek, Monkol

AU - Herwig, Ralf

AU - Shriver, Mark

AU - Bustamante, Carlos D.

AU - Byrnes, Jake K.

AU - De La Vega, Francisco M.

AU - Gravel, Simon

AU - Kenny, Eimear E.

AU - Kidd, Jeffrey M.

AU - Maples, Brian K.

AU - Moreno-Estrada, Andres

AU - Zakharia, Fouad

AU - Halperin, Eran

AU - Baran, Yael

AU - Craig, David W.

AU - Christoforides, Alexis

AU - Homer, Nils

AU - Izatt, Tyler

AU - Kurdoglu, Ahmet A.

AU - Sinari, Shripad A.

AU - Squire, Kevin

AU - Xiao, Chunlin

AU - Sebat, Jonathan

AU - Bafna, Vineet

AU - Ye, Kenny

AU - Burchard, Esteban G.

AU - Hernandez, Ryan D.

AU - Gignoux, Christopher R.

AU - Haussler, David

AU - Katzman, Sol J.

AU - James Kent, W.

AU - Howie, Bryan

AU - Ruiz-Linares, Andres

AU - Dermitzakis, Emmanouil T.

AU - Lappalainen, Tuuli

AU - Devine, Scott E.

AU - Liu, Xinyue

AU - Maroo, Ankit

AU - Tallon, Luke J.

AU - Rosenfeld, Jeffrey A.

AU - Michelson, Leslie P.

AU - Min Kang, Hyun

AU - Anderson, Paul

AU - Angius, Andrea

AU - Bigham, Abigail

AU - Blackwell, Tom

AU - Busonero, Fabio

AU - Cucca, Francesco

AU - Fuchsberger, Christian

AU - Jones, Chris

AU - Jun, Goo

AU - Li, Yun

AU - Lyons, Robert

AU - Maschio, Andrea

AU - Porcu, Eleonora

AU - Reinier, Fred

AU - Sanna, Serena

AU - Schlessinger, David

AU - Sidore, Carlo

AU - Tan, Adrian

AU - Kate Trost, Mary

AU - Awadalla, Philip

AU - Hodgkinson, Alan

AU - Lunter, Gerton

AU - Marchini, Jonathan L.

AU - Myers, Simon

AU - Churchhouse, Claire

AU - Delaneau, Olivier

AU - Gupta-Hinch, Anjali

AU - Iqbal, Zamin

AU - Mathieson, Iain

AU - Rimmer, Andy

AU - Xifara, Dionysia K.

AU - Oleksyk, Taras K.

AU - Fu, Yunxin

AU - Liu, Xiaoming

AU - Xiong, Momiao

AU - Jorde, Lynn

AU - Witherspoon, David

AU - Xing, Jinchuan

AU - Browning, Brian L.

AU - Alkan, Can

AU - Hajirasouliha, Iman

AU - Hormozdiari, Fereydoun

AU - Ko, Arthur

AU - Sudmant, Peter H.

AU - Chen, Ken

AU - Chinwalla, Asif

AU - Ding, Li

AU - Dooling, David

AU - Koboldt, Daniel C.

AU - McLellan, Michael D.

AU - Wallis, John W.

AU - Wendl, Michael C.

AU - Zhang, Qunyuan

AU - Tyler-Smith, Chris

AU - Albers, Cornelis A.

AU - Ayub, Qasim

AU - Chen, Yuan

AU - Coffey, Alison J.

AU - Colonna, Vincenza

AU - Huang, Ni

AU - Jostins, Luke

AU - Li, Heng

AU - Scally, Aylwyn

AU - Walter, Klaudia

AU - Xue, Yali

AU - Zhang, Yujun

AU - Gerstein, Mark B.

AU - Abyzov, Alexej

AU - Balasubramanian, Suganthi

AU - Chen, Jieming

AU - Clarke, Declan

AU - Fu, Yao

AU - Habegger, Lukas

AU - Harmanci, Arif O.

AU - Jin, Mike

AU - Khurana, Ekta

AU - Jasmine Mu, Xinmeng

AU - Sisu, Cristina

AU - Degenhardt, Jeremiah

AU - Stütz, Adrian M.

AU - Keira Cheetham, R.

AU - Church, Deanna

AU - Michaelson, Jacob J.

AU - Blackburne, Ben

AU - Lindsay, Sarah J.

AU - Ning, Zemin

AU - Frankish, Adam

AU - Harrow, Jennifer

AU - Mu, Xinmeng Jasmine

AU - Fowler, Gerald

AU - Hale, Walker

AU - Kalra, Divya

AU - Barker, Jonathan

AU - Kelman, Gavin

AU - Kulesha, Eugene

AU - Radhakrishnan, Rajesh

AU - Roa, Asier

AU - Smirnov, Dmitriy

AU - Streeter, Ian

AU - Toneva, Iliana

AU - Vaughan, Brendan

AU - Ananiev, Victor

AU - Belaia, Zinaida

AU - Beloslyudtsev, Dimitriy

AU - Bouk, Nathan

AU - Chen, Chao

AU - Cohen, Robert

AU - Cook, Charles

AU - Garner, John

AU - Hefferon, Timothy

AU - Kimelman, Mikhail

AU - Liu, Chunlei

AU - Lopez, John

AU - Meric, Peter

AU - O'Sullivan, Chris

AU - Ostapchuk, Yuri

AU - Phan, Lon

AU - Ponomarov, Sergiy

AU - Schneider, Valerie

AU - Shekhtman, Eugene

AU - Sirotkin, Karl

AU - Slotta, Douglas

AU - Zhang, Hua

AU - Barnes, Kathleen C.

AU - Beiswanger, Christine

AU - Cai, Hongyu

AU - Cao, Hongzhi

AU - Gharani, Neda

AU - Henn, Brenna

AU - Jones, Danielle

AU - Kaye, Jane S.

AU - Kent, Alastair

AU - Kerasidou, Angeliki

AU - Mathias, Rasika

AU - Ossorio, Pilar N.

AU - Parker, Michael

AU - Reich, David

AU - Rotimi, Charles N.

AU - Royal, Charmaine D.

AU - Sandoval, Karla

AU - Su, Yeyang

AU - Tian, Zhongming

AU - Tishkoff, Sarah

AU - Toji, Lorraine H.

AU - Via, Marc

AU - Wang, Yuhong

AU - Yang, Huanming

AU - Yang, Ling

AU - Zhu, Jiayong

AU - Bodmer, Walter

AU - Bedoya, Gabriel

AU - Ming, Cai Zhi

AU - Yang, Gao

AU - Jia You, Chu

AU - Peltonen, Leena

AU - Garcia-Montero, Andres

AU - Orfao, Alberto

AU - Dutil, Julie

AU - Martinez-Cruzado, Juan C.

AU - Brooks, Lisa D.

AU - Felsenfeld, Adam L.

AU - McEwen, Jean E.

AU - Clemm, Nicholas C.

AU - Duncanson, Audrey

AU - Dunn, Michael

AU - Guyer, Mark S.

AU - Peterson, Jane L.

AU - Lacroute, Phil

PY - 2012/11/1

Y1 - 2012/11/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84975795680&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84975795680&partnerID=8YFLogxK

U2 - 10.1038/nature11632

DO - 10.1038/nature11632

M3 - Article

C2 - 23128226

AN - SCOPUS:84975795680

VL - 491

SP - 56

EP - 65

JO - Nature

JF - Nature

SN - 0028-0836

IS - 7422

ER -

Altshuler DM, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 Nov 1;491(7422):56-65. https://doi.org/10.1038/nature11632