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The 1000 Genomes Project Consortium *; Corresponding authors; Steering committee; Altshuler, David M. (Co-Chair) 3; Durbin, Richard M. (Co-Chair, Principal Investigator) 4; Donnelly, Peter 8,9; Green, Eric D. 15; Nickerson, Deborah A. 10; Production group; Baylor College of Medicine; Boerwinkle, Eric 14; Doddapaneni, Harsha 14; Han, Yi 14; Korchina, Viktoriya 14; Kovar, Christie 14; Lee, Sandra 14; Muzny, Donna 14; Reid, Jeffrey G. 14; Zhu, Yiming 14; BGI-Shenzhen; Wang, Jun (Principal Investigator) 26,27,28,29,30; Chang, Yuqi 26; Feng, Qiang 26,27; Fang, Xiaodong 26,27; Guo, Xiaosen 26,27; Jian, Min 26,27; Jiang, Hui 26,27; Jin, Xin 26; Lan, Tianming 26; Li, Guoqing 26; Li, Jingxiang 26; Li, Yingrui 26; Liu, Shengmao 26; Liu, Xiao 26,27; Lu, Yao 26; Ma, Xuedi 26; Tang, Meifang 26; Wang, Bo 26; Wang, Guangbiao 26; Wu, Honglong 26; Wu, Renhua 26; Xu, Xun 26; Yin, Ye 26; Zhang, Dandan 26; Zhang, Wenwei 26; Zhao, Jiao 26; Zhao, Meiru 26; Zheng, Xiaole 26; Broad Institute of MIT and Harvard; Lander, Eric S. (Principal Investigator) 13; Gabriel, Stacey B. (Co-Chair) 13; Gupta, Namrata 13; Coriell Institute for Medical Research; Gharani, Neda 31; Toji, Lorraine H. 31; Gerry, Norman P. 31; Resch, Alissa M. 31; European Molecular Biology Laboratory, European Bioinformatics Institute; Barker, Jonathan 12; Gil, Laurent 12; Hunt, Sarah E. 12; Kelman, Gavin 12; Kulesha, Eugene 12; Leinonen, Rasko 12; McLaren, William M. 12; Radhakrishnan, Rajesh 12; Roa, Asier 12; Smirnov, Dmitriy 12; Smith, Richard E. 12; Streeter, Ian 12; Thormann, Anja 12; Toneva, Iliana 12; Vaughan, Brendan 12; Zheng-Bradley, Xiangqun 12; Illumina; Bentley, David R. (Principal Investigator) 5; Grocock, Russell 5; Humphray, Sean 5; James, Terena 5; Kingsbury, Zoya 5; Max Planck Institute for Molecular Genetics; Lehrach, Hans (Principal Investigator) 20,21; Sudbrak, Ralf (Project Leader) 32; Albrecht, Marcus W. 33; Amstislavskiy, Vyacheslav S. 20; Borodina, Tatiana A. 33; Lienhard, Matthias 20; Mertes, Florian 20; Sultan, Marc 20; Timmermann, Bernd 20; Yaspo, Marie-Laure 20; McDonnell Genome Institute at Washington University; Mardis, Elaine R. (Co-Principal Investigator) (Co-Chair) 22; Wilson, Richard K. (Co-Principal Investigator) 22; Fulton, Lucinda 22; Fulton, Robert 22; US National Institutes of Health; Ananiev, Victor 25; Belaia, Zinaida 25; Beloslyudtsev, Dimitriy 25; Bouk, Nathan 25; Chen, Chao 25; Church, Deanna 34; Cohen, Robert 25; Cook, Charles 25; Garner, John 25; Hefferon, Timothy 25; Kimelman, Mikhail 25; Liu, Chunlei 25; Lopez, John 25; Meric, Peter 25; O'Sullivan, Chris 35; Ostapchuk, Yuri 25; Phan, Lon 25; Ponomarov, Sergiy 25; Schneider, Valerie 25; Shekhtman, Eugene 25; Sirotkin, Karl 25; Slotta, Douglas 25; Zhang, Hua 25; University of Oxford; Wellcome Trust Sanger Institute; Balasubramaniam, Senduran 4; Burton, John 4; Danecek, Petr 4; Keane, Thomas M. 4; Kolb-Kokocinski, Anja 4; McCarthy, Shane 4; Stalker, James 4; Quail, Michael 4; Analysis group; Affymetrix; Schmidt, Jeanette P. (Principal Investigator) 24; Davies, Christopher J. 24; Gollub, Jeremy 24; Webster, Teresa 24; Wong, Brant 24; Zhan, Yiping 24; Albert Einstein College of Medicine; Auton, Adam (Principal Investigator) 1; Campbell, Christopher L. 1; Kong, Yu 1; Marcketta, Anthony 1; Yu, Fuli (Project Leader) 14; Antunes, Lilian 14; Bainbridge, Matthew 14; Sabo, Aniko 14; Huang, Zhuoyi 14; Coin, Lachlan J. M. 26; Fang, Lin 26,27; Li, Qibin 26; Li, Zhenyu 26; Lin, Haoxiang 26; Liu, Binghang 26; Luo, Ruibang 26; Shao, Haojing 26,129; Xie, Yinlong 26; Ye, Chen 26; Yu, Chang 26; Zhang, Fan 26; Zheng, Hancheng 26; Zhu, Hongmei 26; Bilkent University; Alkan, Can 36; Dal, Elif 36; Kahveci, Fatma 36; Boston College; Garrison, Erik P. (Project Lead) 4; Kural, Deniz 37; Lee, Wan-Ping 37; Leong, Wen Fung 23,38; Stromberg, Michael 39; Ward, Alistair N. 23; Wu, Jiantao 23,39; Zhang, Mengyao 23,40; Daly, Mark J. (Principal Investigator) 13; DePristo, Mark A. (Project Leader) 41; Handsaker, Robert E. (Project Leader) 13,40; Banks, Eric 13; Bhatia, Gaurav 13; del Angel, Guillermo 13; Genovese, Giulio 13; Li, Heng 13; Kashin, Seva 13,40; Nemesh, James C. 13; Poplin, Ryan E. 13; Cold Spring Harbor Laboratory; Yoon, Seungtai C. (Principal Investigator) 42; Lihm, Jayon 42; Makarov, Vladimir 43; Cornell University; Clark, Andrew G. (Principal Investigator) 7; Gottipati, Srikanth 44; Keinan, Alon 7; Rodriguez-Flores, Juan L. 45; European Molecular Biology Laboratory; Rausch, Tobias (Project Leader) 17,46; Fritz, Markus H. 46; Stutz, Adrian M. 17; Beal, Kathryn 12; Datta, Avik 12; Herrero, Javier 47; Ritchie, Graham R. S. 12; Zerbino, Daniel 12; Harvard University; Sabeti, Pardis C. (Principal Investigator) 13,48; Shlyakhter, Ilya 13,48; Schaffner, Stephen F. 13,48; Vitti, Joseph 13,49; Human Gene Mutation Database; Cooper, David N. (Principal Investigator) 50; Ball, Edward V. 50; Stenson, Peter D. 50; Barnes, Bret 39; Bauer, Markus 5; Cheetham, Keira R. 5; Cox, Anthony 5; Eberle, Michael 5; Kahn, Scott 39; Murray, Lisa 5; Peden, John 5; Shaw, Richard 5; Icahn School of Medicine at Mount Sinai; Kenny, Eimear E. (Principal Investigator) 51; Louisiana State University; Batzer, Mark A. (Principal Investigator) 52; Konkel, Miriam K. 52; Walker, Jerilyn A. 52; Massachusetts General Hospital; MacArthur, Daniel G. (Principal Investigator) 53; Lek, Monkol 53; Herwig, Ralf 20; Koboldt, Daniel C. 22; Larson, David 22; Ye, Kai 22; McGill University; Gravel, Simon 54; National Eye Institute, NIH; Swaroop, Anand 55; Chew, Emily 55; New York Genome Center; Lappalainen, Tuuli (Principal Investigator) 56,57; Erlich, Yaniv (Principal Investigator) 56,58; Gymrek, Melissa 13,56,59,60; Willems, Thomas Frederick 61; Ontario Institute for Cancer Research; Simpson, Jared T. 62; Pennsylvania State University; Shriver, Mark D. (Principal Investigator) 63; Rutgers Cancer Institute of New Jersey; Rosenfeld, Jeffrey A. (Principal Investigator) 64; Stanford University; Montgomery, Stephen B. (Principal Investigator) 66; De La Vega, Francisco M. (Principal Investigator) 65; Byrnes, Jake K. 67; Carroll, Andrew W. 68; DeGorter, Marianne K. 66; Lacroute, Phil 65; Maples, Brian K. 65; Martin, Alicia R. 65; Moreno-Estrada, Andres 65,69; Shringarpure, Suyash S. 65; Zakharia, Fouad 65; Tel-Aviv University; Halperin, Eran (Principal Investigator) 70,71,72; Baran, Yael 70; The Jackson Laboratory for Genomic Medicine; Cerveira, Eliza 18; Hwang, Jaeho 18; Malhotra, Ankit (Co-Project Lead) 18; Plewczynski, Dariusz 18; Radew, Kamen 18; Romanovitch, Mallory 18; Zhang, Chengsheng (Co-Project Lead) 18; Thermo Fisher Scientific; Hyland, Fiona C. L. 73; Translational Genomics Research Institute; Craig, David W. (Principal Investigator) 74; Christoforides, Alexis 74; Homer, Nils 75; Izatt, Tyler 74; Kurdoglu, Ahmet A. 74; Sinari, Shripad A. 74; Squire, Kevin 76; Xiao, Chunlin 25; University of California, San Diego; Sebat, Jonathan (Principal Investigator) 77,78; Antaki, Danny 77; Gujral, Madhusudan 77; Noor, Amina 77; Ye, Kenny 79; University of California, San Francisco; Burchard, Esteban G. (Principal Investigator) 80; Hernandez, Ryan D. (Principal Investigator) 80,81,82; Gignoux, Christopher R. 80; University of California, Santa Cruz; Haussler, David (Principal Investigator) 83,84; Katzman, Sol J. 83; Kent, James W. 83; University of Chicago; Howie, Bryan 85; University College London; Ruiz-Linares, Andres (Principal Investigator) 86; University of Geneva; Dermitzakis, Emmanouil T. (Principal Investigator) 87,88,89; University of Maryland School of Medicine; Devine, Scott E. (Principal Investigator) 90; University of Michigan; Abecasis, Goncalo R. (Principal Investigator) (Co-Chair) 2; Kang, Hyun Min (Project Leader) 2; Kidd, Jeffrey M. (Principal Investigator) 91,92; Blackwell, Tom 2; Caron, Sean 2; Chen, Wei 93; Emery, Sarah 92; Fritsche, Lars 2; Fuchsberger, Christian 2; Jun, Goo 2,94; Li, Bingshan 95; Lyons, Robert 96; Scheller, Chris 2; Sidore, Carlo 2,97,98; Song, Shiya 91; Sliwerska, Elzbieta 92; Taliun, Daniel 2; Tan, Adrian 2; Welch, Ryan 2; Wing, Mary Kate 2; Zhan, Xiaowei 99; University of Montreal; Awadalla, Philip (Principal Investigator) 62,100; Hodgkinson, Alan 100; University of North Carolina at Chapel Hill; Li, Yun 101; University of North Carolina at Charlotte; Shi, Xinghua (Principal Investigator) 102; Quitadamo, Andrew 102; Lunter, Gerton (Principal Investigator) 8; McVean, Gil A. (Principal Investigator) (Co-Chair) 8,9; Marchini, Jonathan L. (Principal Investigator) 8,9; Myers, Simon (Principal Investigator) 8,9; Churchhouse, Claire 9; Delaneau, Olivier 9,87; Gupta-Hinch, Anjali 8; Kretzschmar, Warren 8; Iqbal, Zamin 8; Mathieson, Iain 8; Menelaou, Androniki 9,103; Rimmer, Andy 87; Xifara, Dionysia K. 8,9; University of Puerto Rico; Oleksyk, Taras K. (Principal Investigator) 104; University of Texas Health Sciences Center at Houston; Fu, Yunxin (Principal Investigator) 94; Liu, Xiaoming 94; Xiong, Momiao 94; University of Utah; Jorde, Lynn (Principal Investigator) 105; Witherspoon, David 105; Xing, Jinchuan 106; University of Washington; Browning, Brian L. (Principal Investigator) 107; Browning, Sharon R. (Principal Investigator) 108; Hormozdiari, Fereydoun 10; Sudmant, Peter H. 10; Weill Cornell Medical College; Khurana, Ekta (Principal Investigator) 109; Hurles, Matthew E. (Principal Investigator) 4; Albers, Cornelis A. 110,111; Ayub, Qasim 4; Chen, Yuan 4; Colonna, Vincenza 4,112; Jostins, Luke 8; Walter, Klaudia 4; Xue, Yali 4; Yale University; Abyzov, Alexej 116; Balasubramanian, Suganthi 115; Chen, Jieming 113; Clarke, Declan 117; Fu, Yao 113; Harmanci, Arif O. 113; Jin, Mike 115; Lee, Donghoon 113; Liu, Jeremy 115; Mu, Xinmeng Jasmine 13,113; Zhang, Jing 113,115; Zhang, Yan 113,115; Structural variation group; McCarroll, Steven A. (Principal Investigator) 13,40; Hartl, Chris 13; Shakir, Khalid 13; Degenhardt, Jeremiah 7; Korbel, Jan O. (Principal Investigator) (Co-Chair) 12,17; Meiers, Sascha 17; Raeder, Benjamin 17; Casale, Francesco Paolo 12; Stegle, Oliver 12; Leiden University Medical Center; Lameijer, Eric-Wubbo 118; Ding, Li (Principal Investigator) 22; Hall, Ira 22; Lee, Charles (Principal Investigator) (Co-Chair) 18,19; Bafna, Vineet 119; Michaelson, Jacob 120; Gardner, Eugene J. (Project Leader) 90; Mills, Ryan E. (Principal Investigator) 91,92; Dayama, Gargi 91,92; University of Texas MD Anderson Cancer Center; Chen, Ken (Principle Investigator) 121; Fan, Xian 121; Chong, Zechen 121; Chen, Tenghui 121; Eichler, Evan E. (Principal Investigator) (Co-Chair) 10,11; Chaisson, Mark J. 10; Huddleston, John 10,11; Malig, Maika 10; Nelson, Bradley J. 10; Vanderbilt University School of Medicine; Parrish, Nicholas F. 95; Blackburne, Ben 4; Lindsay, Sarah J. 4; Ning, Zemin 4; Zhang, Yujun 4; Lam, Hugo 122; Sisu, Cristina 113; Exome group; Gibbs, Richard A. (Principal Investigator) (Co-Chair) 14; Challis, Danny 14; Evani, Uday S. 14; Lu, James 14; Nagaswamy, Uma 14; Yu, Jin 14; Li, Wangshen 26; Marth, Gabor T. (Principal Investigator) (Co-Chair) 23; Habegger, Lukas 113; Functional interpretation group; Yu, Haiyuan (Principal Investigator) 44; Cunningham, Fiona 12; Dunham, Ian 12; Lage, Kasper (Principal Investigator) 13,123; Jespersen, Jakob Berg 13,123,124; Horn, Heiko 13,123; Tyler-Smith, Chris (Principal Investigator) (Co-Chair) 4; Gerstein, Mark B. (Principal Investigator) (Co-Chair) 113,114,115; Kim, Donghoon 115; Chromosome Y group; American Museum of Natural History; Desalle, Rob 125; Narechania, Apurva 126; Arizona State University; Wilson Sayres, Melissa A. 127; Bustamante, Carlos D. (Principal Investigator) (Co-Chair) 64,65; Mendez, Fernando L. 65; Poznik, David G. 128; Underhill, Peter A. 65; University of Queensland; Coin, Lachlan (Principal Investigator) 129; Virginia Bioinformatics Institute; Mittelman, David 130; Banerjee, Ruby 4; Cerezo, Maria 4; Fitzgerald, Thomas W. 4; Louzada, Sandra 4; Massaia, Andrea 4; Ritchie, Graham R. 4; Yang, Fengtang 4; Data coordination center group; Kalra, Divya 14; Hale, Walker 14; Dan, Xu 26; Flicek, Paul (Principal Investigator) (Co-Chair) 12; Clarke, Laura (Project Lead) 12; Sherry, Stephen T. (Principal Investigator) (Co-Chair) 25; Samples and ELSI group; Chakravarti, Aravinda (Co-Chair) 6; Knoppers, Bartha M. (Co-Chair) 16; Barnes, Kathleen C. 131; Beiswanger, Christine 31; Cai, Hongyu 26; Cao, Hongzhi 26,27; Henn, Brenna 132; Jones, Danielle 44; Kaye, Jane S. 133; Kent, Alastair 134; Kerasidou, Angeliki 135; Mathias, Rasika 136; Ossorio, Pilar N. 137,138; Parker, Michael 135; Rotimi, Charles N. 139; Royal, Charmaine D. 140; Sandoval, Karla 65; Su, Yeyang 26; Tian, Zhongming 26; Tishkoff, Sarah 141; Via, Marc 142; Wang, Yuhong 26; Yang, Ling 26; Zhu, Jiayong 26; Sample collection; British from England and Scotland (GBR); Bodmer, Walter 143; Colombians in Medellin, Colombia (CLM); Bedoya, Gabriel 144; Han Chinese South (CHS); Cai, Zhiming 26; Gao, Yang 145; Chu, Jiayou 146; Finnish in Finland (FIN); Peltonen, Leena +; Iberian Populations in Spain (IBS); Garcia-Montero, Andres 147; Orfao, Alberto 147; Puerto Ricans in Puerto Rico (PUR); Dutil, Julie 148; Martinez-Cruzado, Juan C. 104; African Caribbean in Barbados (ACB); Mathias, Rasika A. 136; Hennis, Anselm 149,150; Watson, Harold 150; McKenzie, Colin 151; Bengali in Bangladesh (BEB); Qadri, Firdausi 152; LaRocque, Regina 152; Chinese Dai in Xishuangbanna, China (CDX); Deng, Xiaoyan 153; Esan in Nigeria (ESN); Asogun, Danny 154; Folarin, Onikepe 155; Happi, Christian 155,156; Omoniwa, Omonwunmi 155,156; Stremlau, Matt 13,48; Tariyal, Ridhi 13,48; Gambian in Western Division - Mandinka (GWD); Jallow, Muminatou 8,157; Joof, Fatoumatta Sisay 8,157; Corrah, Tumani 8,157; Rockett, Kirk 8,157; Kwiatkowski, Dominic 8,157; Indian Telugu in the UK (ITU) and Sri Lankan Tamil in the UK (STU); Kooner, Jaspal 158; Kinh in Ho Chi Minh City, Vietnam (KHV); Hie[spacing grave]n, Tra[spacing grave]n Tinh 159; Dunstan, Sarah J. 159,160; Hang, Nguyen Thuy 159; Mende in Sierra Leone (MSL); Fonnie, Richard 161; Garry, Robert 162; Kanneh, Lansana 161; Moses, Lina 162; Schieffelin, John 162; Grant, Donald S. 161,162; Peruvian in Lima, Peru (PEL); Gallo, Carla 163; Poletti, Giovanni 163; Punjabi in Lahore, Pakistan (PJL); Saleheen, Danish 164,165; Rasheed, Asif 164; Scientific management; Brooks, Lisa D. 166; Felsenfeld, Adam L. 166; McEwen, Jean E. 166; Vaydylevich, Yekaterina 166; Duncanson, Audrey 167; Dunn, Michael 167; Schloss, Jeffery A. 166; Yang, Huanming 26,168; Writing group
[Article] Nature. 526(7571):68-74, October 1, 2015.

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: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.