Глобальный эталон генетической вариабельности человека

A global reference for human genetic variation
Fengtang Yang, Ryan D. Hernandez, Bret Barnes, Jun Wang, Heng Li, Richard Durbin, Robert E. Handsaker, Nils Homer, Gábor Marth, Gonçalo R. Abecasis, Ruibang Luo, Peter H. Sudmant, Evan E. Eichler, Yun‐Xin Fu, Lon Phan, Stephen T. Sherry, Huanming Yang, Xun Xu, Wenwei Zhang, Richard A. Gibbs, Richard K. Wilson, Stacey Gabriel, David Haussler, Lucinda Fulton, Robert S. Fulton, Elaine R. Mardis, Ken Chen, Guoqing Li, Matthew E. Hurles, Bartha Maria Knoppers, Paul Flicek, Anselm Hennis, Charles N. Rotimi, Andrew G. Clark, Steven A. McCarroll, Deborah A. Nickerson, Mark J. Daly, Iain Mathieson, Brian L. Browning, D.N. Cooper, Eric Banks, David Altshuler, Mark A. DePristo, Namrata Gupta, Ryan Poplin, Khalid Shakir, Peter D. Stenson, Danish Saleheen, Daniel G. MacArthur, Petr Danecek, Thomas Keane, Shane McCarthy, Eric Boerwinkle, Kai Ye, Li Ding, Tyler Izatt, John F. Peden, Giulio Genovese, Kenny Ye, Qibin Li, Eric S. Lander, Laura Clarke, Chris O’Sullivan, Walker Hale, Alberto Órfão, Tenghui Chen, Yun Li, Anand Swaroop, Tuuli Lappalainen, Emmanouil T. Dermitzakis, Stephen B. Montgomery, Bernd Timmermann, Christie Kovar, Donna M. Muzny, Donghoon Kim, Michael A. Quail, Alissa Resch, Jun Wang, Emily Y. Chew, Yali Xue, Vincenza Colonna, Chris Tyler‐Smith, Jan O. Korbel, Suganthi Balasubramanian, Mark Gerstein, Rasko Leinonen, Declan Clarke, Arif Harmanci, Donghoon Lee, Jeffery A. Schloss, Cristina Sisu, Yekaterina Vaydylevich, Daniel R. Zerbino, Melissa Gymrek, Alicia R. Martin, Pardis C. Sabeti, Yuhong Wang, Ian Streeter, Ian Dunham, Mark D. Shriver, John Huddleston, Tobias Rausch, Jared T. Simpson, Yinlong Xie, Yingrui Li, David Bentley, John H. Burton, Sean Humphray, Hans Lehrach, Deanna M. Church, Adam L. Felsenfeld, Mark Chaisson, Yu Kong, Lisa Murray, Gil McVean, Lisa Brooks, Carlos D. Bustamante, Yao Lu, Ira M. Hall, Xiaosen Guo, Can Alkan, Xiaodong Fang, Vineet Bafna, Sharon R. Browning, Xin Jin, Hancheng Zheng, Honglong Wu, Meiru Zhao, Hongzhi Cao, Xiao Liu, Renhua Wu, Meifang Tang, Jingxiang Li, Simon Gravel, Hongmei Zhu, Min Jian, Chang Yu, Binghang Liu, Guoqing Li, Lin Fang, Chen Ye, Alan Hodgkinson, Haojing Shao, Suyash Shringarpure, Andrés Moreno‐Estrada, Daniel C. Koboldt, Chao Chen, Tianming Lan, Heiko Horn, Kasper Lage, Fiona Cunningham, Yan Zhang, Sandra Louzada, Philip Awadalla, Javier Herrero, Jaspal S. Kooner, Jean E. McEwen, Jeffrey G. Reid, Yiming Zhu, Zechen Chong, Jieming Chen, Olivier Delaneau, HarshaVardhan Doddapaneni, Michael Dunn, Erik Garrison, Ekta Khurana, Viktoriya Korchina, Benjamin Raeder, Oliver Stegle, Marie‐Laure Yaspo, Lars G. Fritsche, Adam Auton, Aravinda Chakravarti, Peter Donnelly, Eric D. Green, Charles Lee, Jeanette P. Schmidt, Yi Han, Yuqi Chang, Qiang Feng, Xiaosen Guo, Hui Jiang, Shengmao Liu, Xuedi Ma, Bo Wang, Guangbiao Wang, Ye Yin, Dandan Zhang, Jiao Zhao, Xiaole Zheng, Neda Gharani, Lorraine H. Toji, Norman P. Gerry, Juliet N. Barker, Laurent Gil, Sarah Hunt, Gavin Kelman, Eugene Kulesha, William McLaren, Rajesh Radhakrishnan, Asier Roa, Dmitriy Smirnov, Richard E. Smith, Anja Thormann, Iliana Toneva, Brendan Vaughan, Xiangqun Zheng-Bradley, Russell Grocock, Terena James, Zoya Kingsbury, Ralf Sudbrak, Marcus W. Albrecht, Vyacheslav Amstislavskiy, Tatiana Borodina, Matthias Lienhard, Florian Mertes, Marc Sultan, Victor Ananiev, Zinaida Belaia, Dimitriy Beloslyudtsev, Nathan Bouk, Robert Cohen, Charles Cook, John Garner, Timothy Hefferon, Mikhail Kimelman, Chunlei Liu, John Lopez, Peter Meric, Yuri Ostapchuk, Sergiy Ponomarov, Valérie Schneider, Eugene Shekhtman, Karl Sirotkin, Douglas J. Slotta, Hua Zhang, Senduran Balasubramaniam, Anja Kolb‐Kokocinski, James Stalker, Christopher J. Davies, Jeremy Gollub, Teresa Webster, Brant Wong, Yiping Zhan, Christopher Campbell, Anthony Marcketta, Fuli Yu, Lilian Antunes, Matthew N. Bainbridge, Aniko Sabo, Zhuoyi Huang, Lachlan Coin, Zhenyu Li, Haoxiang Lin, Fan Zhang, Elif Dal, Fatma Kahveci, Deniz Kural, Wan-Ping Lee, Wen Fung Leong, Michael P. Strömberg, Alistair Ward, Jiantao Wu, Mengyao Zhang, Gaurav Bhatia, Guillermo del Angel, Seva Kashin, James Nemesh, Seungtai Yoon, Jayon Lihm, Vladimir Makarov, Srikanth Gottipati, Alon Keinan, Juan L. Rodríguez-Flores, Markus H. Fritz, Adrian M. Stütz, Kathryn Beal, Avik Datta, Graham R. S. Ritchie, Ilya Shlyakhter, S. F. Schaffner, Joseph J. Vitti, Edward V. Ball, Markus Bauer, R. Keira Cheetham, Anthony J. Cox, Michael A. Eberle, Scott D. Kahn, Richard J. Shaw, Eimear E. Kenny, Mark A. Batzer, Miriam K. Konkel, Jerilyn A. Walker, Monkol Lek, Ralf Herwig, David E. Larson, Yaniv Erlich, Thomas Willems, Jeffrey Rosenfeld, Francisco M. De La Vega, Jake Byrnes, Andrew Carroll, Marianne K. DeGorter, Phil Lacroute, Brian K. Maples, Fouad Zakharia, Eran Halperin, Yael Baran, Eliza Cerveira, Jaeho Hwang, Ankit Malhotra, Dariusz Plewczyński, Kamen Radew, Xian Mallory, Chengsheng Zhang, Fiona Hyland, David W. Craig, Alexis Christoforides, Ahmet Kurdoglu, Shripad Sinari, Kevin Squire, Chunlin Xiao, Jonathan Sebat, Danny Antaki, Madhusudan Gujral, Amina Noor, Esteban G. Burchard, Christopher R. Gignoux, Sol Katzman, Wm. Kent, Bryan Howie, Andrés Ruiz‐Linares, Scott E. Devine, Hyun Min Kang, Jeffrey M. Kidd, Tom Blackwell, Sean Caron, Wei Chen, Sarah B. Emery, Christian Fuchsberger, Goo Jun, Bingshan Li, Robert Lyons, Chris Scheller, Carlo Sidore, Shiya Song, Elżbieta Śliwerska, Daniel Taliun, Adrian Tan, Ryan Welch, Mary Kate Wing, Xiaowei Zhan, Xinghua Shi, Andrew Quitadamo, Gerton Lunter, Jonathan Marchini, Simon Myers, Claire Churchhouse, Anjali Gupta Hinch, Warren W. Kretzschmar, Zamin Iqbal, Androniki Menelaou, Andy Rimmer, Dionysia K. Xifara, Tarás K. Oleksyk, Xiaoming Liu, Momiao Xiong, Lynn B. Jorde, David J. Witherspoon, Jinchuan Xing, Fereydoun Hormozdiari, Cornelis A. Albers, Qasim Ayub, Yuan Chen, Luke Jostins, Klaudia Walter, Alexej Abyzov, Yao Fu, Jeremy Liu, Xinmeng Jasmine Mu, Jing Zhang, Christopher Hartl, Jeremiah D. Degenhardt, Sascha Meiers, Francesco Paolo Casale, Eric-Wubbo Lameijer, Jacob J. Michaelson, Eugene J. Gardner, Ryan E. Mills, Gargi Dayama, Xian Fan, Maika Malig, Bradley J. Nelson, Nicholas F. Parrish, Ben Blackburne, Sarah Lindsay, Zemin Ning, Hugo Y. K. Lam, Danny Challis, Uday S. Evani, James T. Lu, Uma Nagaswamy, Jin Yu, Wangshen Li, Lukas Habegger, Haiyuan Yu, Jakob Berg Jespersen, Rob DeSalle, Apurva Narechania, Melissa A. Wilson, Fernando L. Méndez, G. David Poznik, Peter A. Underhill, David Mittelman, Ruby Banerjee, María Cerezo, Tomas Fitzgerald, Andrea Massaia, Divya Kalra, Xu Dan, Guoqing Li, Kathleen C. Barnes, Christine Beiswanger, Hongyu Cai, Brenna M. Henn, D. A. Jones, Jane Kaye, Alastair Kent, Angeliki Kerasidou, Rasika A. Mathias, Pilar N. Ossorio, Michael Parker, Charmaine Royal, Karla Sandoval, Yeyang Su, Zhongming Tian, Sarah A. Tishkoff, Marc Vía, Ling Yang, Jiayong Zhu, Walter F. Bodmer, Gabriel Bedoya, Zhiming Cai, Yang Gao, Jiayou Chu, Leena Peltonen, Andrés C. García‐Montero, Julie Dutil, Juan Carlos Martínez‐Cruzado, Harold Watson, Colin A. McKenzie, Firdausi Qadri, Regina C. LaRocque, Xiaoyan Deng, Danny Asogun, Onikepe Folarin, Christian Happi, Omonwunmi Omoniwa, Matt Stremlau, Ridhi Tariyal, Muminatou Jallow, Fatoumatta Sisay Joof, Tumani Corrah, Kirk A. Rockett, Dominic Kwiatkowski, Tran Tinh Hien, Sarah J. Dunstan, Nguyen Thuy Hang, Richard Fonnie, Robert F. Garry, Lansana Kanneh, Lina Moses, John S. Schieffelin, Donald S. Grant, Carla Gallo, Giovanni Poletti, Asif Rasheed, Audrey Duncanson, Indian Telugu in the UK (ITU) and Sri Lankan Tamil in the UK (STU), Jaspal Kooner, Kinh in Ho Chi Minh City, Vietnam (KHV), Trâ`n Tịnh Hiê`n, Sarah J. Dunstan, Nguyen Thuy Hang, Mende in Sierra Leone (MSL), Richard Fonnie, Robert Garry, Lansana Kanneh, Lina Moses, Pardis C. Sabeti, John Schieffelin, Donald S. Grant, Peruvian in Lima, Peru (PEL), Carla Gallo, Giovanni Poletti, Punjabi in Lahore, Pakistan (PJL), Danish Saleheen, Asif Rasheed, Scientific management, Lisa D. Brooks, Adam L. Felsenfeld, Jean E. McEwen, Yekaterina Vaydylevich, Eric D. Green, Audrey Duncanson, Michael Dunn, Jeffery A. Schloss, Huanming Yang, Writing group, Adam Auton, Richard M. Durbin, Erik P. Garrison, Hyun Min Kang, Jan O. Korbel, Jonathan L. Marchini, Shane McCarthy, Gil A. McVean, Gonçalo R. Abecasis, Stacey B. Gabriel, Li Ding, David Haussler, Richard A. Gibbs, Yuan Chen, Yujun Zhang, Chris Tyler-Smith, Yali Xue, Daniel G. MacArthur, Senduran Balasubramaniam, Heng Li, Chris Hartl, Scott Kahn, David R. Bentley, Sean Humphray, Michael Eberle, Aravinda Chakravarti, Andrew G. Clark, Xiangqun Zheng-Bradley, Paul Flicek, Richard E. Smith, Donna Muzny, Bartha M. Knoppers, Vyacheslav S. Amstislavskiy, Marcus W. Albrecht, Daniel C. Koboldt, Jeffrey M. Kidd, Chunlin Xiao, Stephen T. Sherry, Guoqing Li, Ruibang Luo, Xiaole Zheng, Yingrui Li, Xiaosen Guo, Xinghua Shi, Kenny Ye, Simon Gravel, Jerilyn A. Walker, Alexis Christoforides, Evan E. Eichler, Emmanouil T. Dermitzakis, Xinmeng Jasmine Mu, Suganthi Balasubramanian, Ruby Banerjee, Corresponding authors, David M. Altshuler, Production group, Jeffrey G. Reid, BGI-Shenzhen, Xin Jin, Renhua Wu, Laura Clarke, Illumina, Ralf Sudbrak, Analysis group, Affymetrix, Haojing Shao, Hongmei Zhu, Fatma Kahveci, Gabor T. Marth, Mengyao Zhang, Guillermo del Angel, Seva Kashin, Jayon Lihm, Markus H. Fritz, Human Gene Mutation Database, Melissa Gymrek, Thomas Frederick Willems, Carlos D. Bustamante, Marianne K. DeGorter, Andres Moreno-Estrada, Kamen Radew, Mallory Romanovitch, Chengsheng Zhang, Thermo Fisher Scientific, David W. Craig, Tyler Izatt, Sarah Emery, Vincenza Colonna, Jieming Chen, Structural variation group, Nils Homer, Exome group, Mark B. Gerstein, Functional interpretation group, Chromosome Y group, Samples and ELSI group, Jiayong Zhu, Sample collection, British from England and Scotland (GBR), Colombians in Medellín, Colombia (CLM), Han Chinese South (CHS), Finnish in Finland (FIN), Iberian Populations in Spain (IBS), Puerto Ricans in Puerto Rico (PUR), African Caribbean in Barbados (ACB), Bengali in Bangladesh (BEB), Chinese Dai in Xishuangbanna, China (CDX), Esan in Nigeria (ESN), Gambian in Western Division – Mandinka (GWD), Jonathan Barker, Sandra Lee, Mike Jin, Stacey Gabriel, Binghang Liu, Melissa A. Wilson Sayres, Peter A. Underhill, Thomas W. Fitzgerald
2015-09-29
SCID:  54.1/y72rn58w Discuss with AI
Проект «1000 геномов»глобальный эталонный набор данныхгенетическая вариативность человекаоднонуклеотидные полиморфизмыполногеномное секвенирование
Abstract (AI)
Проект «1000 геномов» был направлен на получение всеобъемлющего описания распространённых вариантов генома человека посредством полногеномного секвенирования разнообразной выборки лиц из нескольких популяций. Здесь мы сообщаем о завершении проекта: геномы 2 504 человек из 26 популяций были реконструированы с использованием комбинации полногеномного секвенирования с низким покрытием, глубокого секвенирования экзома и плотного генотипирования на микрочипах. Мы охарактеризовали широкий спектр генетической вариабельности — всего более 88 миллионов вариантов (84,7 миллиона однонуклеотидных полиморфизмов (SNP), 3,6 миллиона коротких вставок/делеций (инделов) и 60 000 структурных вариантов), все они были фазированы в высококачественные гаплотипы. Этот ресурс включает более 99% вариантов SNP с частотой >1% для различных предковых групп. Мы описываем распределение генетической вариабельности в глобальной выборке и обсуждаем последствия для исследований распространённых заболеваний. Представлены результаты заключительной фазы проекта «1000 геномов», включая полногеномное секвенирование, целевое секвенирование экзома и генотипирование на SNP-микрочипах высокой плотности для 2 504 человек из 26 популяций, что создаёт глобальный эталонный набор данных для поддержки биомедицинской генетики. Проект «1000 геномов» был направлен на всестороннюю каталогизацию генетической вариабельности человека в разных популяциях и создание ценного общедоступного геномного ресурса. Полученные к настоящему времени данные применялись в широком спектре задач — от исследований ассоциаций и тонкого картирования до фильтрации предположительно нейтральных вариантов в когортах пациентов с редкими заболеваниями. В настоящее время авторы сообщают о заключительной фазе проекта — фазе 3, охватывающей ранее не охарактеризованные области генетического разнообразия человека с точки зрения исследованных популяций и категорий охарактеризованных вариантов. Теперь выборка включает более 2 500 человек из 26 глобальных популяций; для них выполнены полногеномное секвенирование с низким покрытием, глубокое секвенирование экзома и плотное генотипирование на микрочипах. Авторы обнаруживают, что, хотя большинство распространённых вариантов являются sha...
Key Findings
1
Все выявленные варианты были фазированы в высококачественные гаплотипы, что позволило охарактеризовать генетическое разнообразие между популяциями.
2
Завершённый проект 1000 Genomes реконструировал геномы 2 504 человек, представляющих 26 популяций мира, с использованием секвенирования и плотного генотипирования.
3
Проект каталогизировал более 88 миллионов вариантов, включая 84,7 миллиона SNP, 3,6 миллиона коротких вставок/делеций и 60 000 структурных вариантов.
4
Ресурс охватывает более 99% SNP-вариантов с частотой выше 1% среди различных популяций.
5
Созданный глобальный референсный набор данных поддерживает исследования ассоциаций, точное картирование и отбор вероятно нейтральных вариантов в когортах редких заболеваний.
Research Object

Комплексный каталог/ресурс человеческой генетической вариабельности (геномы и фазированные варианты, восстановленные для 2504 человек из 26 популяций)

Research Subject

распределение и полный каталог распространённых генетических вариантов, включая SNP, инделы и структурные варианты, между популяциями и их значимость для исследований распространённых заболеваний

Publication Details
Publication Date
2015-09-29
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Author Information
Authors
Fengtang Yang
Ryan D. Hernandez
Bret Barnes
Jun Wang
Heng Li
Richard Durbin
Robert E. Handsaker
Nils Homer
Gábor Marth
Gonçalo R. Abecasis
Ruibang Luo
Peter H. Sudmant
Evan E. Eichler
Yun‐Xin Fu
Lon Phan
Stephen T. Sherry
Huanming Yang
Xun Xu
Wenwei Zhang
Richard A. Gibbs
Richard K. Wilson
Stacey Gabriel
David Haussler
Lucinda Fulton
Robert S. Fulton
Elaine R. Mardis
Ken Chen
Guoqing Li
Matthew E. Hurles
Bartha Maria Knoppers
Paul Flicek
Anselm Hennis
Charles N. Rotimi
Andrew G. Clark
Steven A. McCarroll
Deborah A. Nickerson
Mark J. Daly
Iain Mathieson
Brian L. Browning
D.N. Cooper
Eric Banks
David Altshuler
Mark A. DePristo
Namrata Gupta
Ryan Poplin
Khalid Shakir
Peter D. Stenson
Danish Saleheen
Daniel G. MacArthur
Petr Danecek
Thomas Keane
Shane McCarthy
Eric Boerwinkle
Kai Ye
Li Ding
Tyler Izatt
John F. Peden
Giulio Genovese
Kenny Ye
Qibin Li
Eric S. Lander
Laura Clarke
Chris O’Sullivan
Walker Hale
Alberto Órfão
Tenghui Chen
Yun Li
Anand Swaroop
Tuuli Lappalainen
Emmanouil T. Dermitzakis
Stephen B. Montgomery
Bernd Timmermann
Christie Kovar
Donna M. Muzny
Donghoon Kim
Michael A. Quail
Alissa Resch
Jun Wang
Emily Y. Chew
Yali Xue
Vincenza Colonna
Chris Tyler‐Smith
Jan O. Korbel
Suganthi Balasubramanian
Mark Gerstein
Rasko Leinonen
Declan Clarke
Arif Harmanci
Donghoon Lee
Jeffery A. Schloss
Cristina Sisu
Yekaterina Vaydylevich
Daniel R. Zerbino
Melissa Gymrek
Alicia R. Martin
Pardis C. Sabeti
Yuhong Wang
Ian Streeter
Ian Dunham
Mark D. Shriver
John Huddleston
Tobias Rausch
Jared T. Simpson
Yinlong Xie
Yingrui Li
David Bentley
John H. Burton
Sean Humphray
Hans Lehrach
Deanna M. Church
Adam L. Felsenfeld
Mark Chaisson
Yu Kong
Lisa Murray
Gil McVean
Lisa Brooks
Carlos D. Bustamante
Yao Lu
Ira M. Hall
Xiaosen Guo
Can Alkan
Xiaodong Fang
Vineet Bafna
Sharon R. Browning
Xin Jin
Hancheng Zheng
Honglong Wu
Meiru Zhao
Hongzhi Cao
Xiao Liu
Renhua Wu
Meifang Tang
Jingxiang Li
Simon Gravel
Hongmei Zhu
Min Jian
Chang Yu
Binghang Liu
Guoqing Li
Lin Fang
Chen Ye
Alan Hodgkinson
Haojing Shao
Suyash Shringarpure
Andrés Moreno‐Estrada
Daniel C. Koboldt
Chao Chen
Tianming Lan
Heiko Horn
Kasper Lage
Fiona Cunningham
Yan Zhang
Sandra Louzada
Philip Awadalla
Javier Herrero
Jaspal S. Kooner
Jean E. McEwen
Jeffrey G. Reid
Yiming Zhu
Zechen Chong
Jieming Chen
Olivier Delaneau
HarshaVardhan Doddapaneni
Michael Dunn
Erik Garrison
Ekta Khurana
Viktoriya Korchina
Benjamin Raeder
Oliver Stegle
Marie‐Laure Yaspo
Lars G. Fritsche
Adam Auton
Aravinda Chakravarti
Peter Donnelly
Eric D. Green
Charles Lee
Jeanette P. Schmidt
Yi Han
Yuqi Chang
Qiang Feng
Xiaosen Guo
Hui Jiang
Shengmao Liu
Xuedi Ma
Bo Wang
Guangbiao Wang
Ye Yin
Dandan Zhang
Jiao Zhao
Xiaole Zheng
Neda Gharani
Lorraine H. Toji
Norman P. Gerry
Juliet N. Barker
Laurent Gil
Sarah Hunt
Gavin Kelman
Eugene Kulesha
William McLaren
Rajesh Radhakrishnan
Asier Roa
Dmitriy Smirnov
Richard E. Smith
Anja Thormann
Iliana Toneva
Brendan Vaughan
Xiangqun Zheng-Bradley
Russell Grocock
Terena James
Zoya Kingsbury
Ralf Sudbrak
Marcus W. Albrecht
Vyacheslav Amstislavskiy
Tatiana Borodina
Matthias Lienhard
Florian Mertes
Marc Sultan
Victor Ananiev
Zinaida Belaia
Dimitriy Beloslyudtsev
Nathan Bouk
Robert Cohen
Charles Cook
John Garner
Timothy Hefferon
Mikhail Kimelman
Chunlei Liu
John Lopez
Peter Meric
Yuri Ostapchuk
Sergiy Ponomarov
Valérie Schneider
Eugene Shekhtman
Karl Sirotkin
Douglas J. Slotta
Hua Zhang
Senduran Balasubramaniam
Anja Kolb‐Kokocinski
James Stalker
Christopher J. Davies
Jeremy Gollub
Teresa Webster
Brant Wong
Yiping Zhan
Christopher Campbell
Anthony Marcketta
Fuli Yu
Lilian Antunes
Matthew N. Bainbridge
Aniko Sabo
Zhuoyi Huang
Lachlan Coin
Zhenyu Li
Haoxiang Lin
Fan Zhang
Elif Dal
Fatma Kahveci
Deniz Kural
Wan-Ping Lee
Wen Fung Leong
Michael P. Strömberg
Alistair Ward
Jiantao Wu
Mengyao Zhang
Gaurav Bhatia
Guillermo del Angel
Seva Kashin
James Nemesh
Seungtai Yoon
Jayon Lihm
Vladimir Makarov
Srikanth Gottipati
Alon Keinan
Juan L. Rodríguez-Flores
Markus H. Fritz
Adrian M. Stütz
Kathryn Beal
Avik Datta
Graham R. S. Ritchie
Ilya Shlyakhter
S. F. Schaffner
Joseph J. Vitti
Edward V. Ball
Markus Bauer
R. Keira Cheetham
Anthony J. Cox
Michael A. Eberle
Scott D. Kahn
Richard J. Shaw
Eimear E. Kenny
Mark A. Batzer
Miriam K. Konkel
Jerilyn A. Walker
Monkol Lek
Ralf Herwig
David E. Larson
Yaniv Erlich
Thomas Willems
Jeffrey Rosenfeld
Francisco M. De La Vega
Jake Byrnes
Andrew Carroll
Marianne K. DeGorter
Phil Lacroute
Brian K. Maples
Fouad Zakharia
Eran Halperin
Yael Baran
Eliza Cerveira
Jaeho Hwang
Ankit Malhotra
Dariusz Plewczyński
Kamen Radew
Xian Mallory
Chengsheng Zhang
Fiona Hyland
David W. Craig
Alexis Christoforides
Ahmet Kurdoglu
Shripad Sinari
Kevin Squire
Chunlin Xiao
Jonathan Sebat
Danny Antaki
Madhusudan Gujral
Amina Noor
Esteban G. Burchard
Christopher R. Gignoux
Sol Katzman
Wm. Kent
Bryan Howie
Andrés Ruiz‐Linares
Scott E. Devine
Hyun Min Kang
Jeffrey M. Kidd
Tom Blackwell
Sean Caron
Wei Chen
Sarah B. Emery
Christian Fuchsberger
Goo Jun
Bingshan Li
Robert Lyons
Chris Scheller
Carlo Sidore
Shiya Song
Elżbieta Śliwerska
Daniel Taliun
Adrian Tan
Ryan Welch
Mary Kate Wing
Xiaowei Zhan
Xinghua Shi
Andrew Quitadamo
Gerton Lunter
Jonathan Marchini
Simon Myers
Claire Churchhouse
Anjali Gupta Hinch
Warren W. Kretzschmar
Zamin Iqbal
Androniki Menelaou
Andy Rimmer
Dionysia K. Xifara
Tarás K. Oleksyk
Xiaoming Liu
Momiao Xiong
Lynn B. Jorde
David J. Witherspoon
Jinchuan Xing
Fereydoun Hormozdiari
Cornelis A. Albers
Qasim Ayub
Yuan Chen
Luke Jostins
Klaudia Walter
Alexej Abyzov
Yao Fu
Jeremy Liu
Xinmeng Jasmine Mu
Jing Zhang
Christopher Hartl
Jeremiah D. Degenhardt
Sascha Meiers
Francesco Paolo Casale
Eric-Wubbo Lameijer
Jacob J. Michaelson
Eugene J. Gardner
Ryan E. Mills
Gargi Dayama
Xian Fan
Maika Malig
Bradley J. Nelson
Nicholas F. Parrish
Ben Blackburne
Sarah Lindsay
Zemin Ning
Hugo Y. K. Lam
Danny Challis
Uday S. Evani
James T. Lu
Uma Nagaswamy
Jin Yu
Wangshen Li
Lukas Habegger
Haiyuan Yu
Jakob Berg Jespersen
Rob DeSalle
Apurva Narechania
Melissa A. Wilson
Fernando L. Méndez
G. David Poznik
Peter A. Underhill
David Mittelman
Ruby Banerjee
María Cerezo
Tomas Fitzgerald
Andrea Massaia
Divya Kalra
Xu Dan
Guoqing Li
Kathleen C. Barnes
Christine Beiswanger
Hongyu Cai
Brenna M. Henn
D. A. Jones
Jane Kaye
Alastair Kent
Angeliki Kerasidou
Rasika A. Mathias
Pilar N. Ossorio
Michael Parker
Charmaine Royal
Karla Sandoval
Yeyang Su
Zhongming Tian
Sarah A. Tishkoff
Marc Vía
Ling Yang
Jiayong Zhu
Walter F. Bodmer
Gabriel Bedoya
Zhiming Cai
Yang Gao
Jiayou Chu
Leena Peltonen
Andrés C. García‐Montero
Julie Dutil
Juan Carlos Martínez‐Cruzado
Harold Watson
Colin A. McKenzie
Firdausi Qadri
Regina C. LaRocque
Xiaoyan Deng
Danny Asogun
Onikepe Folarin
Christian Happi
Omonwunmi Omoniwa
Matt Stremlau
Ridhi Tariyal
Muminatou Jallow
Fatoumatta Sisay Joof
Tumani Corrah
Kirk A. Rockett
Dominic Kwiatkowski
Tran Tinh Hien
Sarah J. Dunstan
Nguyen Thuy Hang
Richard Fonnie
Robert F. Garry
Lansana Kanneh
Lina Moses
John S. Schieffelin
Donald S. Grant
Carla Gallo
Giovanni Poletti
Asif Rasheed
Audrey Duncanson
Indian Telugu in the UK (ITU) and Sri Lankan Tamil in the UK (STU)
Jaspal Kooner
Kinh in Ho Chi Minh City, Vietnam (KHV)
Trâ`n Tịnh Hiê`n
Sarah J. Dunstan
Nguyen Thuy Hang
Mende in Sierra Leone (MSL)
Richard Fonnie
Robert Garry
Lansana Kanneh
Lina Moses
Pardis C. Sabeti
John Schieffelin
Donald S. Grant
Peruvian in Lima, Peru (PEL)
Carla Gallo
Giovanni Poletti
Punjabi in Lahore, Pakistan (PJL)
Danish Saleheen
Asif Rasheed
Scientific management
Lisa D. Brooks
Adam L. Felsenfeld
Jean E. McEwen
Yekaterina Vaydylevich
Eric D. Green
Audrey Duncanson
Michael Dunn
Jeffery A. Schloss
Huanming Yang
Writing group
Adam Auton
Richard M. Durbin
Erik P. Garrison
Hyun Min Kang
Jan O. Korbel
Jonathan L. Marchini
Shane McCarthy
Gil A. McVean
Gonçalo R. Abecasis
Stacey B. Gabriel
Li Ding
David Haussler
Richard A. Gibbs
Yuan Chen
Yujun Zhang
Chris Tyler-Smith
Yali Xue
Daniel G. MacArthur
Senduran Balasubramaniam
Heng Li
Chris Hartl
Scott Kahn
David R. Bentley
Sean Humphray
Michael Eberle
Aravinda Chakravarti
Andrew G. Clark
Xiangqun Zheng-Bradley
Paul Flicek
Richard E. Smith
Donna Muzny
Bartha M. Knoppers
Vyacheslav S. Amstislavskiy
Marcus W. Albrecht
Daniel C. Koboldt
Jeffrey M. Kidd
Chunlin Xiao
Stephen T. Sherry
Guoqing Li
Ruibang Luo
Xiaole Zheng
Yingrui Li
Xiaosen Guo
Xinghua Shi
Kenny Ye
Simon Gravel
Jerilyn A. Walker
Alexis Christoforides
Evan E. Eichler
Emmanouil T. Dermitzakis
Xinmeng Jasmine Mu
Suganthi Balasubramanian
Ruby Banerjee
Corresponding authors
David M. Altshuler
Production group
Jeffrey G. Reid
BGI-Shenzhen
Xin Jin
Renhua Wu
Laura Clarke
Illumina
Ralf Sudbrak
Analysis group
Affymetrix
Haojing Shao
Hongmei Zhu
Fatma Kahveci
Gabor T. Marth
Mengyao Zhang
Guillermo del Angel
Seva Kashin
Jayon Lihm
Markus H. Fritz
Human Gene Mutation Database
Melissa Gymrek
Thomas Frederick Willems
Carlos D. Bustamante
Marianne K. DeGorter
Andres Moreno-Estrada
Kamen Radew
Mallory Romanovitch
Chengsheng Zhang
Thermo Fisher Scientific
David W. Craig
Tyler Izatt
Sarah Emery
Vincenza Colonna
Jieming Chen
Structural variation group
Nils Homer
Exome group
Mark B. Gerstein
Functional interpretation group
Chromosome Y group
Samples and ELSI group
Jiayong Zhu
Sample collection
British from England and Scotland (GBR)
Colombians in Medellín, Colombia (CLM)
Han Chinese South (CHS)
Finnish in Finland (FIN)
Iberian Populations in Spain (IBS)
Puerto Ricans in Puerto Rico (PUR)
African Caribbean in Barbados (ACB)
Bengali in Bangladesh (BEB)
Chinese Dai in Xishuangbanna, China (CDX)
Esan in Nigeria (ESN)
Gambian in Western Division – Mandinka (GWD)
Jonathan Barker
Sandra Lee
Mike Jin
Stacey Gabriel
Binghang Liu
Melissa A. Wilson Sayres
Peter A. Underhill
Thomas W. Fitzgerald
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