Semantic Scholar Open Access 2012 7972 sitasi

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

Gil A. David M. Richard M. Gonçalo R. David R. Aravind McVean Altshuler (Co-Chair) Durbin (Co-Chair) Abec G. McVean David M. Richard M. Gonçalo R. David R. Aravinda Andrew Altshuler (Co-Chair) Durbin (Co-Chair) Abecasis Be David M. Altshuler (Co-Chair) Richard M. Durbin (Co-Chair) +495 lainnya

Lihat Sumber DOI

Abstrak

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.

Topik & Kata Kunci

Biology Medicine

Penulis (500)

Gil A. David M. Richard M. Gonçalo R. David R. Aravind McVean Altshuler (Co-Chair) Durbin (Co-Chair) Abec

G. McVean

David M. Richard M. Gonçalo R. David R. Aravinda Andrew Altshuler (Co-Chair) Durbin (Co-Chair) Abecasis Be

David M. Altshuler (Co-Chair)

Richard M. Durbin (Co-Chair)

G. Abecasis

D. Bentley

A. Chakravarti

A. Clark

P. Donnelly

Evan E. Eichler

Paul Flicek

S. Gabriel

R. A. Gibbs

E. Green

M. Hurles

B. Knoppers

J. Korbel

E. Lander

Charles Lee

H. Lehrach

E. Mardis

Gabor T. Marth

G. McVean

D. Nickerson

Jeanette Schmidt

S. Sherry

Jun Wang

R. Wilson

Richard A. Huyen Christie Sandra Lora Donna Jeff Min Jun X Gibbs (Principal Investigator) Dinh Kovar Lee Lewi

Richard A. Huyen Christie Sandra Lora Donna Jeff Min Gibbs (Principal Investigator) Dinh Kovar Lee Lewi

Richard A. Gibbs (Principal Investigator)

H. Dinh

C. Kovar

Sandy Lee

L. Lewis

D. Muzny

J. Reid

Min Wang

Jun Xiaodong Xiaosen Min Hui Xin Guoqing Jingxiang Yin Wang (Principal Investigator) Fang Guo Jian Jiang

Jun Wang (Principal Investigator)

X. Fang

Xiaosen Guo

Min Jian

Hui Jiang

Xin Jin

Guoqing Li

Jingxiang Li

Yingrui Li

Zhu Li

Xiao Liu

Yao Lu

Xuedi Ma

Zheng Su

S. Tai

M. Tang

Bo Wang

Guangbiao Wang

Honglong Wu

Renhua Wu

Ye Yin

Wenwei Zhang

Jiao Zhao

Meiru Zhao

Xiaole Zheng

Yan Zhou

Eric S. David M. Stacey B. Namrata Lander (Principal Investigator) Altshuler Gabriel

Eric S. Lander (Principal Investigator)

D. Altshuler

Stacey B. Gabriel (Co-Chair)

N. Gupta

Paul Laura Rasko Richard E. Xiangqun Flicek (Principal Investigator) Clarke Leinonen Sm

Paul Flicek (Principal Investigator)

Laura Clarke

Rasko Leinonen

Richard E. Smith

Xiangqun Zheng-Bradley

David R. Russell Sean Terena Zoya Bentley (Principal Investigator) Grocock Humphray

David R. Bentley (Principal Investigator)

R. Grocock

S. Humphray

Terena James

Z. Kingsbury

Hans Ralf Marcus W. Vyacheslav S. Tatiana A. Matthias F Lehrach (Principal Investigator) Sudbrak (Project

Hans Lehrach (Principal Investigator)

Ralf Sudbrak (Project Leader)

Marcus W. Albrecht

V. Amstislavskiy

T. Borodina

M. Lienhard

F. Mertes

M. Sultan

B. Timmermann

M. Yaspo

Stephen T. Sherry (Principal Investigator)

Gil A. McVean (Principal Investigator)

Elaine R. Richard K. Lucinda Robert George M. Mardis (Co-Principal Investigator) (Co-Chair) Wils

Elaine R. Mardis (Co-Principal Investigator) (Co-Chair)

Richard K. Wilson (Co-Principal Investigator)

L. Fulton

R. Fulton

G. Weinstock

Richard M. Senduran John Petr Thomas M. Anja Shane James M Durbin (Principal Investigator) Balasubramaniam Bu

Richard M. Durbin (Principal Investigator)

Senduran Balasubramaniam

J. Burton

P. Danecek

Thomas M. Keane

Anja Kolb-Kokocinski

Shane A. McCarthy

J. Stalker

Michael A. Quail

Jeanette P. Christopher J. Jeremy Teresa Brant Yiping Adam Schmidt (Principal Investigator) Davies Gollub Web

Jeanette P. Christopher J. Jeremy Teresa Brant Yiping Schmidt (Principal Investigator) Davies Gollub Web

Jeanette P. Schmidt (Principal Investigator)

C. J. Davies

J. Gollub

Teresa A. Webster

Brant Wong

Yiping Zhan

Adam Auton (Principal Investigator)

Richard A. Fuli Matthew Danny Uday S. James Donna Uma Jeff Gibbs (Principal Investigator) Yu (Project Leader)

Fuli Yu (Project Leader)

M. Bainbridge

Danny Challis

U. S. Evani

James T. Lu

U. Nagaswamy

A. Sabo

Yi Wang

Jin Yu

Jun Lachlan J. M. Lin Xiaosen Xin Guoqing Qibin Yingru Wang (Principal Investigator) Coin Fang Guo Jin Li

L. Coin

L. Fang

Qibin Li

Zhenyu Li

Haoxiang Lin

Binghang Liu

Ruibang Luo

Nan Qin

Haojing Shao

Bingqi Wang

Yinlong Xie

C. Ye

Chang Yu

Fan Zhang

Hancheng Zheng

Hongmei Zhu

Gabor T. Erik P. Deniz Wan-Ping Wen Alistair N. Jiantao Marth (Principal Investigator) Garrison Kural Lee

Gabor T. Marth (Principal Investigator)

Erik P. Garrison

Deniz Kural

Wan-Ping Lee

Wen Fung Leong

Alistair N. Ward

Jiantao Wu

Mengyao Zhang

Charles Lauren Chih-Heng Ryan E. Xinghua Marcin Chengsheng Lee (Principal Investigator) Griffin Hsieh Mills S

Charles Lee (Principal Investigator)

Lauren E. Griffin

Chih-heng Hsieh

Ryan E. Mills

Xinghua Shi

Marcin von Grotthuss

Chengsheng Zhang

Mark J. Mark A. David M. Eric Gaurav Mauricio O. Guille Daly (Principal Investigator) DePristo (Project Le

Mark J. Daly (Principal Investigator)

Mark A. DePristo (Project Leader)

E. Banks

G. Bhatia

Mauricio O. Carneiro

G. Del Angel

G. Genovese

R. Handsaker

C. Hartl

S. Mccarroll

J. Nemesh

R. Poplin

S. Schaffner

Khalid Shakir

Seungtai C. Jayon Vladimir Yoon (Principal Investigator) Lihm Makarov

Seungtai C. Yoon (Principal Investigator)

Jayon Lihm

Vladimir Makarov

Hanjun Wook Ki Jin (Principal Investigator) Kim Cheol Kim

Hanjun Jin (Principal Investigator)

Wook Kim

Ki Cheol Kim

Jan O. Tobias Korbel (Principal Investigator) Rausch

Jan O. Korbel (Principal Investigator)

T. Rausch

Paul Kathryn Laura Fiona Javier William M. Graham R. S. Flicek (Principal Investigator) Beal Clarke Cunnin

Kathryn M Beal

Fiona Cunningham

Javier Herrero

W. McLaren

G. Ritchie

Andrew G. Srikanth Alon Juan L. Clark (Principal Investigator) Gottipati Keinan Ro

Andrew G. Clark (Principal Investigator)

S. Gottipati

A. Keinan

Juan L. Rodriguez-Flores

Pardis C. Sharon R. Shervin Ridhi Sabeti (Principal Investigator) Grossman Tabrizi T

Pardis C. Sabeti (Principal Investigator)

S. Grossman

S. Tabrizi

Ridhi Tariyal

David N. Edward V. Peter D. Cooper (Principal Investigator) Ball Stenson

David N. Cooper (Principal Investigator)

E. Ball

P. Stenson

David R. Bret Markus R. Tony Michael Sean Scott Lisa Joh Bentley (Principal Investigator) Barnes Bauer Keir

B. Barnes

Markus Bauer

R. Keira Cheetham

Tony Cox

M. Eberle

Scott D. Kahn

L. Murray

J. Peden

Richard Shaw

Kai Ye (Principal Investigator)

Mark A. Miriam K. Jerilyn A. Batzer (Principal Investigator) Konkel Walker

Mark A. Batzer (Principal Investigator)

Miriam K. Konkel

Jerilyn A. Walker

Daniel G. Monkol MacArthur (Principal Investigator) Lek

Daniel G. MacArthur (Principal Investigator)

M. Lek

Vyacheslav S. Ralf Sudbrak (Project Leader) Amstislavskiy Herwig

Sudbrak (Project Leader)

R. Herwig

Mark D. Shriver (Principal Investigator)

Carlos D. Jake K. Francisco M. Simon Eimear E. Jeffrey M. Bustamante (Principal Investigator) Byrnes De La V

Carlos D. Bustamante (Principal Investigator)

Jake K. Byrnes

F. M. De La Vega

S. Gravel

E. Kenny

J. Kidd

P. Lacroute

B. K. Maples

A. Moreno-Estrada

Fouad Zakharia

Eran Yael Halperin (Principal Investigator) Baran

Eran Halperin (Principal Investigator)

Yael Baran

David W. Alexis Nils Tyler Ahmet A. Shripad A. Kevin Craig (Principal Investigator) Christoforides Home

David W. Craig (Principal Investigator)

Alexis Christoforides

Nils Homer

Tyler Izatt

Ahmet A. Kurdoglu

Shripad A. Sinari

Kevin Squire

Stephen T. Chunlin Sherry (Principal Investigator) Xiao

Chunlin Xiao

Jonathan Vineet Kenny Sebat (Principal Investigator) Bafna Ye

Jonathan Sebat (Principal Investigator)

V. Bafna

Kenny Q. Ye

Esteban G. Ryan D. Christopher R. Burchard (Principal Investigator) Hernandez (Princ

Esteban G. Burchard (Principal Investigator)

Ryan D. Hernandez (Principal Investigator)

Christopher R. Gignoux

David Sol J. W. Haussler (Principal Investigator) Katzman James Ke

David Haussler (Principal Investigator)

Sol Katzman

W. James Kent

Bryan N. Howie

Andres Ruiz-Linares (Principal Investigator)

Emmanouil T. Tuuli Dermitzakis (Principal Investigator) Lappalainen

Emmanouil T. Dermitzakis (Principal Investigator)

T. Lappalainen

Scott E. Xinyue Ankit Luke J. Devine (Principal Investigator) Liu Maroo Tallon

Scott E. Devine (Principal Investigator)

Xinyue Liu

A. Maroo

L. Tallon

Jeffrey A. Leslie P. Rosenfeld (Principal Investigator) Michelson

Jeffrey A. Rosenfeld (Principal Investigator)

L. P. Michelson

Gonçalo R. Hyun Paul Andrea Abigail Tom Fabio Francesco Ch Abecasis (Principal Investigator) (Co-Chair) Min K

Gonçalo R. Abecasis (Principal Investigator) (Co-Chair)

Hyun Min Kang (Project Leader)

Paul Anderson

A. Angius

A. Bigham

T. Blackwell

F. Busonero

F. Cucca

C. Fuchsberger

Chris Jones

G. Jun

Yun Li

R. Lyons

A. Maschio

E. Porcu

F. Reinier

S. Sanna

D. Schlessinger

C. Sidore

Adrian Tan

Mary Kate Trost

Philip Alan Awadalla (Principal Investigator) Hodgkinson

Philip Awadalla (Principal Investigator)

A. Hodgkinson

Gerton Gil A. Jonathan L. Simon Claire Olivier Anjali Zam Lunter (Principal Investigator) McVean (Principal

Gerton Lunter (Principal Investigator)

Gil A. McVean (Principal Investigator) (Co-Chair)

Jonathan L. Marchini (Principal Investigator)

Simon Myers (Principal Investigator)

C. Churchhouse

Olivier Delaneau

Anjali Gupta-Hinch

Z. Iqbal

I. Mathieson

A. Rimmer

Dionysia K. Xifara

Taras K. Oleksyk (Principal Investigator)

Yunxin Xiaoming Momiao Fu (Principal Investigator) Liu Xiong

Yunxin Fu (Principal Investigator)

Xiaoming Liu

Momiao Xiong

Lynn David Jinchuan Jorde (Principal Investigator) Witherspoon Xing

Lynn Jorde (Principal Investigator)

D. Witherspoon

Jinchuan Xing

Evan E. Brian L. Can Iman Fereydoun Arthur Peter H. Eichler (Principal Investigator) Browning (Princip

Evan E. Eichler (Principal Investigator)

Brian L. Browning (Principal Investigator)

C. Alkan

Iman Hajirasouliha

F. Hormozdiari

Arthur Ko

Peter Sudmant

Elaine R. Ken Asif Li David Daniel C. Michael D. John W. Mardis (Co-Principal Investigator) Chen Chinwalla

Elaine R. Mardis (Co-Principal Investigator)

Ken Chen

A. Chinwalla

L. Ding

D. Dooling

D. Koboldt

M. McLellan

J. Wallis

M. Wendl

Qunyuan Zhang

Richard M. Matthew E. Chris Cornelis A. Qasim Senduran Yua Durbin (Principal Investigator) Hurles (Principal

Matthew E. Hurles (Principal Investigator)

Chris Tyler-Smith (Principal Investigator)

C. A. Albers

Q. Ayub

Yuan Chen

A. Coffey

V. Colonna

N. Huang

L. Jostins

Heng Li

A. Scally

Klaudia Walter

Yali Xue

Yujun Zhang

Mark B. Alexej Suganthi Jieming Declan Yao Lukas Arif O Gerstein (Principal Investigator) Abyzov Balasubra

Mark B. Gerstein (Principal Investigator)

A. Abyzov

S. Balasubramanian

Jieming Chen

Declan Clarke

Yao Fu

L. Habegger

A. Harmanci

Mike Jin

Ekta Khurana

Xinmeng Jasmine Mu

Cristina Sisu

Yingrui Ruibang Hongmei Charles Lauren Chih-Heng Ryan E. X Li Luo Zhu Lee (Principal Investigator) (Co-Chair)

Yingrui Ruibang Hongmei Li Luo Zhu

Charles Lauren Chih-Heng Ryan E. Xinghua Marcin Chengsheng Lee (Principal Investigator) (Co-Chair) Griffin Hs

Charles Lee (Principal Investigator) (Co-Chair)

Gabor T. Erik P. Deniz Wan-Ping Alistair N. Jiantao Meng Marth (Principal Investigator) Garrison Kural Lee

Steven A. David M. Eric Guillermo Giulio Robert E. Chris McCarroll (Project Leader) Altshuler Banks del Ang

Steven A. McCarroll (Project Leader)

Jeremiah D. Degenhardt

Paul Laura Richard E. Xiangqun Flicek (Principal Investigator) Clarke Smith Zheng

Jan O. Tobias Adrian M. Korbel (Principal Investigator) (Co-Chair) Rausch

Jan O. Korbel (Principal Investigator) (Co-Chair)

A. Stütz

David R. Bret R. Michael Sean Scott Lisa Richard Bentley (Principal Investigator) Barnes Keira Chee

David W. Nils Craig (Principal Investigator) Homer

Deanna Chunlin Church Xiao

D. Church

Jonathan Vineet Jacob J. Kenny Sebat (Principal Investigator) Bafna Michaelson Ye

J. Michaelson

Gerton Gil A. Zamin Lunter (Principal Investigator) McVean (Principal

David Jinchuan Witherspoon Xing

Evan E. Can Iman Fereydoun Arthur Peter H. Eichler (Principal Investigator) (Co-Chair) Alkan

Evan E. Eichler (Principal Investigator) (Co-Chair)

Ken Asif Li Michael D. John W. Chen Chinwalla Ding McLellan Wallis

Matthew E. Ben Heng Sarah J. Zemin Aylwyn Klaudia Yujun Hurles (Principal Investigator) (Co-Chair) Blackbu

Matthew E. Hurles (Principal Investigator) (Co-Chair)

Benjamin P. Blackburne

S. Lindsay

Z. Ning

Mark B. Alexej Jieming Declan Ekta Xinmeng Cristina Gerstein (Principal Investigator) Abyzov Chen Clar

Mark B. Gerstein (Principal Investigator)

Richard A. Fuli Matthew Danny Uday S. Christie Lora James Gibbs (Principal Investigator) (Co-Chair) Yu (Proj

Richard A. Gibbs (Principal Investigator) (Co-Chair)

Xiaosen Yingrui Renhua Guo Li Wu

Gabor T. Erik P. Wen Alistair N. Marth (Principal Investigator) (Co-Chair) Garrison

Gabor T. Marth (Principal Investigator) (Co-Chair)

Guillermo Mark A. Stacey B. Namrata Chris Ryan E. del Angel DePristo Gabriel Gupta Hartl Poplin

M. DePristo

Andrew G. Juan L. Clark (Principal Investigator) Rodriguez-Flores

Carlos D. Simon Bustamante (Principal Investigator) Gravel

David W. Alexis Nils Tyler Craig (Principal Investigator) Christoforides Home

Gonçalo R. Hyun Abecasis (Principal Investigator) Min Kang

Gonçalo R. Abecasis (Principal Investigator)

Hyun Min Kang

Elaine R. David Lucinda Robert Daniel C. Mardis (Principal Investigator) Dooling Fulton Ful

Elaine R. Mardis (Principal Investigator)

Richard M. Senduran Thomas M. Shane James Durbin (Principal Investigator) Balasubramaniam Ke

Mark B. Suganthi Lukas Gerstein (Principal Investigator) Balasubramanian

Erik P. Richard A. Matthew Donna Fuli Jin Guillermo Rob Garrison Gibbs (Principal Investigator) Bainbridge

Richard A. Matthew Donna Fuli Jin Gibbs (Principal Investigator) Bainbridge Muzny Yu

F. Yu

Guillermo Robert E. del Angel Handsaker

Paul Kathryn Laura Fiona Javier William M. Graham R. S. Flicek (Principal Investigator) Beal Clarke Cunnin

Carlos D. Francisco M. Bustamante (Principal Investigator) De La Vega

David W. Ahmet A. Craig (Principal Investigator) Kurdoglu

Chris Yuan Vincenza Adam Jennifer Yali Tyler-Smith (Principal Investigator) (Co-Chair) Ch

Chris Tyler-Smith (Principal Investigator) (Co-Chair)

A. Frankish

J. Harrow

Mark B. Alexej Suganthi Jieming Declan Yao Arif O. Mike Gerstein (Principal Investigator) (Co-Chair) Abyzo

Mark B. Gerstein (Principal Investigator) (Co-Chair)

Richard A. Gerald Walker Divya Christie Donna Jeff Jun Xia Gibbs (Principal Investigator) Fowler Hale Kalra K

Richard A. Gerald Walker Divya Christie Donna Jeff Gibbs (Principal Investigator) Fowler Hale Kalra K

G. Fowler

Walker Hale

D. Kalra

Jun Xiaosen Guoqing Yingrui Xiaole Wang (Principal Investigator) Guo Li Li Zheng

Paul Laura Jonathan Gavin Eugene Rasko William M. Rajes Flicek (Principal Investigator) (Co-Chair) Clarke

Paul Flicek (Principal Investigator) (Co-Chair)

Laura Clarke (Project Leader)

Jonathan A. Barker

G. Kelman

Eugene Kulesha

Rajesh Radhakrishnan

Asier Roa

Dmitriy Smirnov

Ian Streeter

I. Toneva

Brendan W. Vaughan

David R. Tony Sean Scott Bentley (Principal Investigator) Cox Humphray Kahn

Ralf Marcus W. Matthias Sudbrak (Project Leader) Albrecht Lienhard

David W. Tyler Ahmet A. Craig (Principal Investigator) Izatt Kurdoglu

Stephen T. Victor Zinaida Dimitriy Nathan Chao Deanna Robe Sherry (Principal Investigator) (Co-Chair) Ananiev

Stephen T. Sherry (Principal Investigator) (Co-Chair)

Victor Ananiev

Zinaida Belaia

Dimitriy Beloslyudtsev

Nathan Bouk

Chao Chen

Robert Cohen

Charles Cook

John Garner

T. Hefferon

M. Kimelman

Chunlei Liu

John Lopez

Peter A. Meric

Christa O'Sullivan

Yu. G. Ostapchuk

Lon Phan

Sergiy Ponomarov

Valerie A. Schneider

Eugene M. Shekhtman

K. Sirotkin

D. Slotta

Hua Zhang

Can Arthur Alkan Ko

Aravinda Bartha M. Gonçalo R. Kathleen C. Christine Esteban Chakravarti (Co-Chair) Knoppers (Co-Chair) Abecasi

Aravinda Chakravarti (Co-Chair)

Bartha M. Knoppers (Co-Chair)

G. Abecasis

K. Barnes

C. Beiswanger

E. Burchard

C. Bustamante

Hongyu Cai

H. Cao

R. Durbin

N. Gharani

R. A. Gibbs

B. Henn

Danielle A. Jones

L. Jorde

J. Kaye

A. Kent

Format Sitasi

APA MLA BibTeX

Abec, G.A.D.M.R.M.G.R.D.R.A.M.A.(.D.(., McVean, G., Be, D.M.R.M.G.R.D.R.A.A.A.(.D.(.A., (Co-Chair), D.M.A., (Co-Chair), R.M.D., Abecasis, G. et al. (2012). An integrated map of genetic variation from 1,092 human genomes. https://doi.org/10.1038/nature11632

@article{abec2012, author = {Gil A. David M. Richard M. Gonçalo R. David R. Aravind McVean Altshuler (Co-Chair) Durbin (Co-Chair) Abec and G. McVean and David M. Richard M. Gonçalo R. David R. Aravinda Andrew Altshuler (Co-Chair) Durbin (Co-Chair) Abecasis Be and David M. Altshuler (Co-Chair) and Richard M. Durbin (Co-Chair) and G. Abecasis and D. Bentley and A. Chakravarti and A. Clark and P. Donnelly and Evan E. Eichler and Paul Flicek and S. Gabriel and R. A. Gibbs and E. Green and M. Hurles and B. Knoppers and J. Korbel and E. Lander and Charles Lee and H. Lehrach and E. Mardis and Gabor T. Marth and G. McVean and D. Nickerson and Jeanette Schmidt and S. Sherry and Jun Wang and R. Wilson and Richard A. Huyen Christie Sandra Lora Donna Jeff Min Jun X Gibbs (Principal Investigator) Dinh Kovar Lee Lewi and Richard A. Huyen Christie Sandra Lora Donna Jeff Min Gibbs (Principal Investigator) Dinh Kovar Lee Lewi and Richard A. Gibbs (Principal Investigator) and H. Dinh and C. Kovar and Sandy Lee and L. Lewis and D. Muzny and J. Reid and Min Wang and Jun Xiaodong Xiaosen Min Hui Xin Guoqing Jingxiang Yin Wang (Principal Investigator) Fang Guo Jian Jiang and Jun Wang (Principal Investigator) and X. Fang and Xiaosen Guo and Min Jian and Hui Jiang and Xin Jin and Guoqing Li and Jingxiang Li and Yingrui Li and Zhu Li and Xiao Liu and Yao Lu and Xuedi Ma and Zheng Su and S. Tai and M. Tang and Bo Wang and Guangbiao Wang and Honglong Wu and Renhua Wu and Ye Yin and Wenwei Zhang and Jiao Zhao and Meiru Zhao and Xiaole Zheng and Yan Zhou and Eric S. David M. Stacey B. Namrata Lander (Principal Investigator) Altshuler Gabriel and Eric S. Lander (Principal Investigator) and D. Altshuler and Stacey B. Gabriel (Co-Chair) and N. Gupta and Paul Laura Rasko Richard E. Xiangqun Flicek (Principal Investigator) Clarke Leinonen Sm and Paul Flicek (Principal Investigator) and Laura Clarke and Rasko Leinonen and Richard E. Smith and Xiangqun Zheng-Bradley and David R. Russell Sean Terena Zoya Bentley (Principal Investigator) Grocock Humphray and David R. Bentley (Principal Investigator) and R. Grocock and S. Humphray and Terena James and Z. Kingsbury and Hans Ralf Marcus W. Vyacheslav S. Tatiana A. Matthias F Lehrach (Principal Investigator) Sudbrak (Project and Hans Lehrach (Principal Investigator) and Ralf Sudbrak (Project Leader) and Marcus W. Albrecht and V. Amstislavskiy and T. Borodina and M. Lienhard and F. Mertes and M. Sultan and B. Timmermann and M. Yaspo and Stephen T. Sherry (Principal Investigator) and Gil A. McVean (Principal Investigator) and Elaine R. Richard K. Lucinda Robert George M. Mardis (Co-Principal Investigator) (Co-Chair) Wils and Elaine R. Mardis (Co-Principal Investigator) (Co-Chair) and Richard K. Wilson (Co-Principal Investigator) and L. Fulton and R. Fulton and G. Weinstock and Richard M. Senduran John Petr Thomas M. Anja Shane James M Durbin (Principal Investigator) Balasubramaniam Bu and Richard M. Durbin (Principal Investigator) and Senduran Balasubramaniam and J. Burton and P. Danecek and Thomas M. Keane and Anja Kolb-Kokocinski and Shane A. McCarthy and J. Stalker and Michael A. Quail and Jeanette P. Christopher J. Jeremy Teresa Brant Yiping Adam Schmidt (Principal Investigator) Davies Gollub Web and Jeanette P. Christopher J. Jeremy Teresa Brant Yiping Schmidt (Principal Investigator) Davies Gollub Web and Jeanette P. Schmidt (Principal Investigator) and C. J. Davies and J. Gollub and Teresa A. Webster and Brant Wong and Yiping Zhan and Adam Auton (Principal Investigator) and Richard A. Fuli Matthew Danny Uday S. James Donna Uma Jeff Gibbs (Principal Investigator) Yu (Project Leader) and Fuli Yu (Project Leader) and M. Bainbridge and Danny Challis and U. S. Evani and James T. Lu and U. Nagaswamy and A. Sabo and Yi Wang and Jin Yu and Jun Lachlan J. M. Lin Xiaosen Xin Guoqing Qibin Yingru Wang (Principal Investigator) Coin Fang Guo Jin Li and L. Coin and L. Fang and Qibin Li and Zhenyu Li and Haoxiang Lin and Binghang Liu and Ruibang Luo and Nan Qin and Haojing Shao and Bingqi Wang and Yinlong Xie and C. Ye and Chang Yu and Fan Zhang and Hancheng Zheng and Hongmei Zhu and Gabor T. Erik P. Deniz Wan-Ping Wen Alistair N. Jiantao Marth (Principal Investigator) Garrison Kural Lee and Gabor T. Marth (Principal Investigator) and Erik P. Garrison and Deniz Kural and Wan-Ping Lee and Wen Fung Leong and Alistair N. Ward and Jiantao Wu and Mengyao Zhang and Charles Lauren Chih-Heng Ryan E. Xinghua Marcin Chengsheng Lee (Principal Investigator) Griffin Hsieh Mills S and Charles Lee (Principal Investigator) and Lauren E. Griffin and Chih-heng Hsieh and Ryan E. Mills and Xinghua Shi and Marcin von Grotthuss and Chengsheng Zhang and Mark J. Mark A. David M. Eric Gaurav Mauricio O. Guille Daly (Principal Investigator) DePristo (Project Le and Mark J. Daly (Principal Investigator) and Mark A. DePristo (Project Leader) and E. Banks and G. Bhatia and Mauricio O. Carneiro and G. Del Angel and G. Genovese and R. Handsaker and C. Hartl and S. Mccarroll and J. Nemesh and R. Poplin and S. Schaffner and Khalid Shakir and Seungtai C. Jayon Vladimir Yoon (Principal Investigator) Lihm Makarov and Seungtai C. Yoon (Principal Investigator) and Jayon Lihm and Vladimir Makarov and Hanjun Wook Ki Jin (Principal Investigator) Kim Cheol Kim and Hanjun Jin (Principal Investigator) and Wook Kim and Ki Cheol Kim and Jan O. Tobias Korbel (Principal Investigator) Rausch and Jan O. Korbel (Principal Investigator) and T. Rausch and Paul Kathryn Laura Fiona Javier William M. Graham R. S. Flicek (Principal Investigator) Beal Clarke Cunnin and Kathryn M Beal and Fiona Cunningham and Javier Herrero and W. McLaren and G. Ritchie and Andrew G. Srikanth Alon Juan L. Clark (Principal Investigator) Gottipati Keinan Ro and Andrew G. Clark (Principal Investigator) and S. Gottipati and A. Keinan and Juan L. Rodriguez-Flores and Pardis C. Sharon R. Shervin Ridhi Sabeti (Principal Investigator) Grossman Tabrizi T and Pardis C. Sabeti (Principal Investigator) and S. Grossman and S. Tabrizi and Ridhi Tariyal and David N. Edward V. Peter D. Cooper (Principal Investigator) Ball Stenson and David N. Cooper (Principal Investigator) and E. Ball and P. Stenson and David R. Bret Markus R. Tony Michael Sean Scott Lisa Joh Bentley (Principal Investigator) Barnes Bauer Keir and B. Barnes and Markus Bauer and R. Keira Cheetham and Tony Cox and M. Eberle and Scott D. Kahn and L. Murray and J. Peden and Richard Shaw and Kai Ye (Principal Investigator) and Mark A. Miriam K. Jerilyn A. Batzer (Principal Investigator) Konkel Walker and Mark A. Batzer (Principal Investigator) and Miriam K. Konkel and Jerilyn A. Walker and Daniel G. Monkol MacArthur (Principal Investigator) Lek and Daniel G. MacArthur (Principal Investigator) and M. Lek and Vyacheslav S. Ralf Sudbrak (Project Leader) Amstislavskiy Herwig and Sudbrak (Project Leader) and R. Herwig and Mark D. Shriver (Principal Investigator) and Carlos D. Jake K. Francisco M. Simon Eimear E. Jeffrey M. Bustamante (Principal Investigator) Byrnes De La V and Carlos D. Bustamante (Principal Investigator) and Jake K. Byrnes and F. M. De La Vega and S. Gravel and E. Kenny and J. Kidd and P. Lacroute and B. K. Maples and A. Moreno-Estrada and Fouad Zakharia and Eran Yael Halperin (Principal Investigator) Baran and Eran Halperin (Principal Investigator) and Yael Baran and David W. Alexis Nils Tyler Ahmet A. Shripad A. Kevin Craig (Principal Investigator) Christoforides Home and David W. Craig (Principal Investigator) and Alexis Christoforides and Nils Homer and Tyler Izatt and Ahmet A. Kurdoglu and Shripad A. Sinari and Kevin Squire and Stephen T. Chunlin Sherry (Principal Investigator) Xiao and Chunlin Xiao and Jonathan Vineet Kenny Sebat (Principal Investigator) Bafna Ye and Jonathan Sebat (Principal Investigator) and V. Bafna and Kenny Q. Ye and Esteban G. Ryan D. Christopher R. Burchard (Principal Investigator) Hernandez (Princ and Esteban G. Burchard (Principal Investigator) and Ryan D. Hernandez (Principal Investigator) and Christopher R. Gignoux and David Sol J. W. Haussler (Principal Investigator) Katzman James Ke and David Haussler (Principal Investigator) and Sol Katzman and W. James Kent and Bryan N. Howie and Andres Ruiz-Linares (Principal Investigator) and Emmanouil T. Tuuli Dermitzakis (Principal Investigator) Lappalainen and Emmanouil T. Dermitzakis (Principal Investigator) and T. Lappalainen and Scott E. Xinyue Ankit Luke J. Devine (Principal Investigator) Liu Maroo Tallon and Scott E. Devine (Principal Investigator) and Xinyue Liu and A. Maroo and L. Tallon and Jeffrey A. Leslie P. Rosenfeld (Principal Investigator) Michelson and Jeffrey A. Rosenfeld (Principal Investigator) and L. P. Michelson and Gonçalo R. Hyun Paul Andrea Abigail Tom Fabio Francesco Ch Abecasis (Principal Investigator) (Co-Chair) Min K and Gonçalo R. Abecasis (Principal Investigator) (Co-Chair) and Hyun Min Kang (Project Leader) and Paul Anderson and A. Angius and A. Bigham and T. Blackwell and F. Busonero and F. Cucca and C. Fuchsberger and Chris Jones and G. Jun and Yun Li and R. Lyons and A. Maschio and E. Porcu and F. Reinier and S. Sanna and D. Schlessinger and C. Sidore and Adrian Tan and Mary Kate Trost and Philip Alan Awadalla (Principal Investigator) Hodgkinson and Philip Awadalla (Principal Investigator) and A. Hodgkinson and Gerton Gil A. Jonathan L. Simon Claire Olivier Anjali Zam Lunter (Principal Investigator) McVean (Principal and Gerton Lunter (Principal Investigator) and Gil A. McVean (Principal Investigator) (Co-Chair) and Jonathan L. Marchini (Principal Investigator) and Simon Myers (Principal Investigator) and C. Churchhouse and Olivier Delaneau and Anjali Gupta-Hinch and Z. Iqbal and I. Mathieson and A. Rimmer and Dionysia K. Xifara and Taras K. Oleksyk (Principal Investigator) and Yunxin Xiaoming Momiao Fu (Principal Investigator) Liu Xiong and Yunxin Fu (Principal Investigator) and Xiaoming Liu and Momiao Xiong and Lynn David Jinchuan Jorde (Principal Investigator) Witherspoon Xing and Lynn Jorde (Principal Investigator) and D. Witherspoon and Jinchuan Xing and Evan E. Brian L. Can Iman Fereydoun Arthur Peter H. Eichler (Principal Investigator) Browning (Princip and Evan E. Eichler (Principal Investigator) and Brian L. Browning (Principal Investigator) and C. Alkan and Iman Hajirasouliha and F. Hormozdiari and Arthur Ko and Peter Sudmant and Elaine R. Ken Asif Li David Daniel C. Michael D. John W. Mardis (Co-Principal Investigator) Chen Chinwalla and Elaine R. Mardis (Co-Principal Investigator) and Ken Chen and A. Chinwalla and L. Ding and D. Dooling and D. Koboldt and M. McLellan and J. Wallis and M. Wendl and Qunyuan Zhang and Richard M. Matthew E. Chris Cornelis A. Qasim Senduran Yua Durbin (Principal Investigator) Hurles (Principal and Matthew E. Hurles (Principal Investigator) and Chris Tyler-Smith (Principal Investigator) and C. A. Albers and Q. Ayub and Yuan Chen and A. Coffey and V. Colonna and N. Huang and L. Jostins and Heng Li and A. Scally and Klaudia Walter and Yali Xue and Yujun Zhang and Mark B. Alexej Suganthi Jieming Declan Yao Lukas Arif O Gerstein (Principal Investigator) Abyzov Balasubra and Mark B. Gerstein (Principal Investigator) and A. Abyzov and S. Balasubramanian and Jieming Chen and Declan Clarke and Yao Fu and L. Habegger and A. Harmanci and Mike Jin and Ekta Khurana and Xinmeng Jasmine Mu and Cristina Sisu and Yingrui Ruibang Hongmei Charles Lauren Chih-Heng Ryan E. X Li Luo Zhu Lee (Principal Investigator) (Co-Chair) and Yingrui Ruibang Hongmei Li Luo Zhu and Charles Lauren Chih-Heng Ryan E. Xinghua Marcin Chengsheng Lee (Principal Investigator) (Co-Chair) Griffin Hs and Charles Lee (Principal Investigator) (Co-Chair) and Gabor T. Erik P. Deniz Wan-Ping Alistair N. Jiantao Meng Marth (Principal Investigator) Garrison Kural Lee and Steven A. David M. Eric Guillermo Giulio Robert E. Chris McCarroll (Project Leader) Altshuler Banks del Ang and Steven A. McCarroll (Project Leader) and Jeremiah D. Degenhardt and Paul Laura Richard E. Xiangqun Flicek (Principal Investigator) Clarke Smith Zheng and Jan O. Tobias Adrian M. Korbel (Principal Investigator) (Co-Chair) Rausch and Jan O. Korbel (Principal Investigator) (Co-Chair) and A. Stütz and David R. Bret R. Michael Sean Scott Lisa Richard Bentley (Principal Investigator) Barnes Keira Chee and David W. Nils Craig (Principal Investigator) Homer and Deanna Chunlin Church Xiao and D. Church and Jonathan Vineet Jacob J. Kenny Sebat (Principal Investigator) Bafna Michaelson Ye and J. Michaelson and Gerton Gil A. Zamin Lunter (Principal Investigator) McVean (Principal and David Jinchuan Witherspoon Xing and Evan E. Can Iman Fereydoun Arthur Peter H. Eichler (Principal Investigator) (Co-Chair) Alkan and Evan E. Eichler (Principal Investigator) (Co-Chair) and Ken Asif Li Michael D. John W. Chen Chinwalla Ding McLellan Wallis and Matthew E. Ben Heng Sarah J. Zemin Aylwyn Klaudia Yujun Hurles (Principal Investigator) (Co-Chair) Blackbu and Matthew E. Hurles (Principal Investigator) (Co-Chair) and Benjamin P. Blackburne and S. Lindsay and Z. Ning and Mark B. Alexej Jieming Declan Ekta Xinmeng Cristina Gerstein (Principal Investigator) Abyzov Chen Clar and Mark B. Gerstein (Principal Investigator) and Richard A. Fuli Matthew Danny Uday S. Christie Lora James Gibbs (Principal Investigator) (Co-Chair) Yu (Proj and Richard A. Fuli Matthew Danny Uday S. Christie Lora James Gibbs (Principal Investigator) (Co-Chair) Yu (Proj and Richard A. Gibbs (Principal Investigator) (Co-Chair) and Xiaosen Yingrui Renhua Guo Li Wu and Gabor T. Erik P. Wen Alistair N. Marth (Principal Investigator) (Co-Chair) Garrison and Gabor T. Marth (Principal Investigator) (Co-Chair) and Guillermo Mark A. Stacey B. Namrata Chris Ryan E. del Angel DePristo Gabriel Gupta Hartl Poplin and M. DePristo and Andrew G. Juan L. Clark (Principal Investigator) Rodriguez-Flores and Carlos D. Simon Bustamante (Principal Investigator) Gravel and David W. Alexis Nils Tyler Craig (Principal Investigator) Christoforides Home and Gonçalo R. Hyun Abecasis (Principal Investigator) Min Kang and Gonçalo R. Abecasis (Principal Investigator) and Hyun Min Kang and Elaine R. David Lucinda Robert Daniel C. Mardis (Principal Investigator) Dooling Fulton Ful and Elaine R. Mardis (Principal Investigator) and Richard M. Senduran Thomas M. Shane James Durbin (Principal Investigator) Balasubramaniam Ke and Mark B. Suganthi Lukas Gerstein (Principal Investigator) Balasubramanian and Erik P. Richard A. Matthew Donna Fuli Jin Guillermo Rob Garrison Gibbs (Principal Investigator) Bainbridge and Richard A. Matthew Donna Fuli Jin Gibbs (Principal Investigator) Bainbridge Muzny Yu and F. Yu and Guillermo Robert E. del Angel Handsaker and Paul Kathryn Laura Fiona Javier William M. Graham R. S. Flicek (Principal Investigator) Beal Clarke Cunnin and Carlos D. Francisco M. Bustamante (Principal Investigator) De La Vega and David W. Ahmet A. Craig (Principal Investigator) Kurdoglu and Chris Yuan Vincenza Adam Jennifer Yali Tyler-Smith (Principal Investigator) (Co-Chair) Ch and Chris Tyler-Smith (Principal Investigator) (Co-Chair) and A. Frankish and J. Harrow and Mark B. Alexej Suganthi Jieming Declan Yao Arif O. Mike Gerstein (Principal Investigator) (Co-Chair) Abyzo and Mark B. Gerstein (Principal Investigator) (Co-Chair) and Richard A. Gerald Walker Divya Christie Donna Jeff Jun Xia Gibbs (Principal Investigator) Fowler Hale Kalra K and Richard A. Gerald Walker Divya Christie Donna Jeff Gibbs (Principal Investigator) Fowler Hale Kalra K and G. Fowler and Walker Hale and D. Kalra and Jun Xiaosen Guoqing Yingrui Xiaole Wang (Principal Investigator) Guo Li Li Zheng and Paul Laura Jonathan Gavin Eugene Rasko William M. Rajes Flicek (Principal Investigator) (Co-Chair) Clarke and Paul Flicek (Principal Investigator) (Co-Chair) and Laura Clarke (Project Leader) and Jonathan A. Barker and G. Kelman and Eugene Kulesha and Rajesh Radhakrishnan and Asier Roa and Dmitriy Smirnov and Ian Streeter and I. Toneva and Brendan W. Vaughan and David R. Tony Sean Scott Bentley (Principal Investigator) Cox Humphray Kahn and Ralf Marcus W. Matthias Sudbrak (Project Leader) Albrecht Lienhard and David W. Tyler Ahmet A. Craig (Principal Investigator) Izatt Kurdoglu and Stephen T. Victor Zinaida Dimitriy Nathan Chao Deanna Robe Sherry (Principal Investigator) (Co-Chair) Ananiev and Stephen T. Sherry (Principal Investigator) (Co-Chair) 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 T. Hefferon and M. Kimelman and Chunlei Liu and John Lopez and Peter A. Meric and Christa O'Sullivan and Yu. G. Ostapchuk and Lon Phan and Sergiy Ponomarov and Valerie A. Schneider and Eugene M. Shekhtman and K. Sirotkin and D. Slotta and Hua Zhang and Can Arthur Alkan Ko and Aravinda Bartha M. Gonçalo R. Kathleen C. Christine Esteban Chakravarti (Co-Chair) Knoppers (Co-Chair) Abecasi and Aravinda Chakravarti (Co-Chair) and Bartha M. Knoppers (Co-Chair) and G. Abecasis and K. Barnes and C. Beiswanger and E. Burchard and C. Bustamante and Hongyu Cai and H. Cao and R. Durbin and N. Gharani and R. A. Gibbs and B. Henn and Danielle A. Jones and L. Jorde and J. Kaye and A. Kent}, title = {An integrated map of genetic variation from 1,092 human genomes}, year = {2012}, journal = {Semantic Scholar}, doi = {10.1038/nature11632}, url = {https://www.semanticscholar.org/paper/9d1fc4e31f59310e48532932f6ddea424b3ec986}, }

Akses Cepat

Lihat di Sumber doi.org/10.1038/nature11632

Informasi Jurnal

Tahun Terbit: 2012
Bahasa: en
Total Sitasi: 7972×
Sumber Database: Semantic Scholar
DOI: 10.1038/nature11632
Akses: Open Access ✓