A global reference for human genetic variation

Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin;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. Marth;Gil A. McVean;Deborah A. Nickerson;Jeanette P. Schmidt;Stephen T. Sherry;军 王;Richard K. Wilson;Eric Boerwinkle;Harsha Doddapaneni;Yi Han;Viktoriya Korchina;Christie Kovar;Sandra Lee;Donna Muzny;Jeffrey G. Reid;Yiming Zhu;Yuqi Chang;Qiang Feng;Xiaodong Fang;Xiaosen Guo;Min Jian;Hui Jiang;Xin Jin;Tianming Lan;Guoqing Li;Jingxiang Li;Yingrui Li;Shengmao Liu;Xiao Liu;Yao Lu;Xuedi Ma;Meifang Tang;Bo Wang;Guangbiao Wang;Honglong Wu;Renhua Wu;Xun Xu;Ye Yin;Dandan Zhang;Wenwei Zhang;Jiao Zhao;Meiru Zhao;Xiaole Zheng;Namrata Gupta;Neda Gharani;Lorraine H. Toji;Norman P. Gerry;Alissa M. Resch;Jonathan Barker;Laura Clarke;Laurent Gil;Sarah E. Hunt;Gavin Kelman;Eugene Kulesha;Rasko Leinonen;William M. McLaren;Rajesh Radhakrishnan;Asier Roa;Dmitriy Smirnov;Richard E. Smith;Ian Streeter;Anja Thormann;Iliana Toneva;Brendan Vaughan;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;Victor Ananiev;Zinaida Belaia;Dimitriy Beloslyudtsev;Nathan Bouk;Chao Chen;Deanna Church;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;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;Christopher L. Campbell;Yu Kong;Anthony Marcketta;Fuli Yu;Lilian Antunes;Matthew Bainbridge;Aniko Sabo;Zhuoyi Huang;Lachlan J.M. Coin;Lin Fang;Qibin Li;Zhenyu Li;Haoxiang Lin;Binghang Liu;Ruibang Luo;Haojing Shao;Yinlong Xie;Chen Ye;Chang Yu;Fan Zhang;Hancheng Zheng;Hongmei Zhu;Can Alkan;Elif Dal;Fatma Kahveci;Erik P. Garrison;Deniz Kural;Wan Ping Lee;Wen Fung Leong;Michael Stromberg;Alistair N. Ward;Jiantao Wu;Mengyao Zhang;Mark J. Daly;Mark A. DePristo;Robert E. Handsaker;Eric Banks;Gaurav Bhatia;Guillermo Del Angel;Giulio Genovese;Heng Li;Seva Kashin;Steven A. McCarroll;James C. Nemesh;Ryan E. Poplin;Seungtai C. Yoon;Jayon Lihm;Vladimir Makarov;Srikanth Gottipati;Alon Keinan;Juan L. Rodriguez-Flores;Tobias Rausch;Markus H. Fritz;Adrian M. Stütz;Kathryn Beal;Avik Datta;Javier Herrero;Graham R.S. Ritchie;Daniel Zerbino;Pardis C. Sabeti;Ilya Shlyakhter;Stephen F. Schaffner;Joseph Vitti;David N. Cooper;Edward V. Ball;Peter D. Stenson;Bret Barnes;Markus Bauer;R. Keira Cheetham;Anthony Cox;Michael Eberle;Scott Kahn;Lisa Murray;John Peden;Richard Shaw;Eimear E. Kenny;Mark A. Batzer;Miriam K. Konkel;Jerilyn A. Walker;Daniel G. MacArthur;Monkol Lek;Ralf Herwig;Li Ding;Daniel C. Koboldt;David Larson;Kai Ye;Simon Gravel;Anand Swaroop;Emily Chew;Tuuli Lappalainen;Yaniv Erlich;Melissa Gymrek;Thomas Frederick Willems;Jared T. Simpson;Mark D. Shriver;Jeffrey A. Rosenfeld;Carlos D. Bustamante;Stephen B. Montgomery;Francisco M. De La Vega;Jake K. Byrnes;Andrew W. Carroll;Marianne K. DeGorter;Phil Lacroute;Brian K. Maples;Alicia R. Martin;Andres Moreno-Estrada;Suyash S. Shringarpure;Fouad Zakharia;Eran Halperin;Yael Baran;Eliza Cerveira;Jaeho Hwang;Ankit Malhotra;Dariusz Plewczynski;Kamen Radew;Mallory Romanovitch;Chengsheng Zhang;Fiona C.L. Hyland;David W. Craig;Alexis Christoforides;Nils Homer;Tyler Izatt;Ahmet A. Kurdoglu;Shripad A. Sinari;Kevin Squire;Chunlin Xiao;Jonathan Sebat;Danny Antaki;Madhusudan Gujral;Amina Noor;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;Scott E. Devine;Hyun Min Kang;Jeffrey M. Kidd;Tom Blackwell;Sean Caron;Wei Chen;Sarah Emery;Lars Fritsche;Christian Fuchsberger;Goo Jun;Bingshan Li;Robert Lyons;Chris Scheller;Carlo Sidore;Shiya Song;Elzbieta Sliwerska;Daniel Taliun;Adrian Tan;Ryan Welch;Mary Kate Wing;Xiaowei Zhan;Philip Awadalla;Alan Hodgkinson;Yun Li;Xinghua Shi;Andrew Quitadamo;Gerton Lunter;Jonathan L. Marchini;Simon Myers;Claire Churchhouse;Olivier Delaneau;Anjali Gupta-Hinch;Warren Kretzschmar;Zamin Iqbal;Iain Mathieson;Androniki Menelaou;Andy Rimmer;Dionysia K. Xifara;Taras K. Oleksyk;Yunxin Fu;Xiaoming Liu;Momiao Xiong;Lynn Jorde;David Witherspoon;Jinchuan Xing;Brian L. Browning;Sharon R. Browning;Fereydoun Hormozdiari;Peter H. Sudmant;Ekta Khurana;Chris Tyler-Smith;Cornelis A. Albers;Qasim Ayub;Yuan Chen;Vincenza Colonna;Luke Jostins;Klaudia Walter;Yali Xue;Mark B. Gerstein;Alexej Abyzov;Suganthi Balasubramanian;Jieming Chen;Declan Clarke;Yao Fu;Arif O. Harmanci;Mike Jin;Donghoon Lee;Jeremy Liu;Xinmeng Jasmine Mu;Jing Zhang;Yan Zhang;Chris Hartl;Khalid Shakir;Jeremiah Degenhardt;Sascha Meiers;Benjamin Raeder;Francesco Paolo Casale;Oliver Stegle;Eric Wubbo Lameijer;Ira Hall;Vineet Bafna;Jacob Michaelson;Eugene J. Gardner;Ryan E. Mills;Gargi Dayama;Ken Chen;Xian Fan;Zechen Chong;Tenghui Chen;Mark J. Chaisson;John Huddleston;Maika Malig;Bradley J. Nelson;Nicholas F. Parrish;Ben Blackburne;Sarah J. Lindsay;Zemin Ning;Yujun Zhang;Hugo Lam;Cristina Sisu;Danny Challis;Uday S. Evani;James Lu;Uma Nagaswamy;Jin Yu;Wangshen Li;Lukas Habegger;Haiyuan Yu;Fiona Cunningham;Ian Dunham;Kasper Lage;Jakob Berg Jespersen;Heiko Horn;Donghoon Kim;Rob Desalle;Apurva Narechania;Melissa A.Wilson Sayres;Fernando L. Mendez;G. David Poznik;Peter A. Underhill;David Mittelman;Ruby Banerjee;Maria Cerezo;Thomas W. Fitzgerald;Sandra Louzada;Andrea Massaia;Fengtang Yang;Divya Kalra;Walker Hale;Xu Dan;Kathleen C. Barnes;Christine Beiswanger;Hongyu Cai;Hongzhi Cao;Brenna Henn;Danielle Jones;Jane S. Kaye;Alastair Kent;Angeliki Kerasidou;Rasika Mathias;Pilar N. Ossorio;Michael Parker;Charles N. Rotimi;Charmaine D. Royal;Karla Sandoval;Yeyang Su;Zhongming Tian;Sarah Tishkoff;Marc Via;Yuhong Wang;焕明 杨;Ling Yang;Jiayong Zhu;Walter Bodmer;Gabriel Bedoya;Zhiming Cai;Yang Gao;Jiayou Chu;Leena Peltonen;Andres Garcia-Montero;Alberto Orfao;Julie Dutil;Juan C. Martinez-Cruzado;Rasika A. Mathias;Anselm Hennis;Harold Watson;Colin McKenzie;Firdausi Qadri;Regina LaRocque;Xiaoyan Deng;Danny Asogun;Onikepe Folarin;Christian Happi;Omonwunmi Omoniwa;Matt Stremlau;Ridhi Tariyal;Muminatou Jallow;Fatoumatta Sisay Joof;Tumani Corrah;Kirk Rockett;Dominic Kwiatkowski;Jaspal Kooner;Tran Tinh Hien;Sarah J. Dunstan;Nguyen ThuyHang;Richard Fonnie;Robert Garry;Lansana Kanneh;Lina Moses;John Schieffelin;Donald S. Grant;Carla Gallo;Giovanni Poletti;Danish Saleheen;Asif Rasheed;Lisa D. Brooks;Adam L. Felsenfeld;Jean E. McEwen;Yekaterina Vaydylevich;Audrey Duncanson;Michael Dunn;Jeffery A. Schloss

Yeshiva University;University of Michigan; Ann Arbor;Vertex Pharmaceuticals; Inc.;Wellcome Sanger Institute;Illumina United Kingdom;Johns Hopkins University;Cornell University;University of Oxford;University of Washington;European Molecular Biology Laboratory;Broad Institute;Baylor College of Medicine;National Institutes of Health;McGill University Faculty of Medicine;Jackson Laboratory;Ewha Womans University;Max Planck Institute for Molecular Genetics;Dahlem Centre for Genome Research and Medical Systems Biology;Washington University St. Louis;University of Utah;Thermo Fisher Scientific;CAS - Beijing Institute of Genomics;University of Copenhagen;King Abdulaziz University;Macau University of Science and Technology;The University of Hong Kong;Coriell Institute for Medical Research;Maastricht University;Alacris Theranostics GmbH;Personalis; Inc.;University of Queensland;Bilkent University;Seven Bridges Genomics Inc;Kansas State University;Harvard University;Synapdx;Cold Spring Harbor Laboratory;Icahn School of Medicine at Mount Sinai;University College London;Cardiff University;Louisiana State University;New York Genome Center;Columbia University;Whitehead Institute for Biomedical Research;Ontario Institute for Cancer Research;Pennsylvania State University;Rutgers - The State University of New Jersey; New Brunswick;Stanford University;Ancestry.com Inc;DNAnexus;CINVESTAV-IPN;Tel Aviv University;University of California at Berkeley;Translational Genomics Research Institute;Life Technologies;University of California at Los Angeles;University of California at San Diego;University of California at San Francisco;University of California at Santa Cruz;Howard Hughes Medical Institute;The University of Chicago;University of Geneva;Swiss Institute of Bioinformatics;University of Maryland; Baltimore;University of Pittsburgh;University of Texas Health Science Center at Houston;Vanderbilt University;National Research Council of Italy;University of Sassari;University of Texas Southwestern Medical Center;University of Montreal;University of North Carolina at Chapel Hill;University of North Carolina at Charlotte;Utrecht University;University of Puerto Rico-Mayaguez;Radboud University Nijmegen;Yale University;Mayo Clinic Rochester; MN;Leiden University;University of Texas MD Anderson Cancer Center;Bina Technologies;Technical University of Denmark;American Museum of Natural History;Arizona State University;Virginia Polytechnic Institute and State University;Stony Brook University;Genetic Alliance UK;University of Wisconsin-Madison;Duke University;University of Pennsylvania;University of Barcelona;James D. Watson Institute of Genome Sciences;Universidad de Antioquia;Peking University;Chinese Academy of Medical Sciences and Peking Union Medical College;Universidad de Salamanca;Ponce Health Sciences University;The University of the West Indies;International Centre for Diarrhoeal Disease Research Bangladesh;Xishuangbanna Health School;Irrua Specialist Teaching Hospital;Redeemers University;Medical Research Council Laboratories Gambia;Hammersmith Hospital;Oxford University Clinical Research Unit;University of Melbourne;Kenema Government Hospital;Tulane University;Universidad Peruana Cayetano Heredia;Center for Non-Communicable Diseases;Wellcome Trust

发表时间:2015-9-30

期 刊:Nature

语 言:English

U R L: http://www.scopus.com/inward/record.url?scp=84943171338&partnerID=8YFLogxK

摘要

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.

文献指纹

医学与生命科学

Human Genetics

Genetic Variation

Whole Genome Sequencing

Single Nucleotide Polymorphism

Genome

Exome

High-Throughput Nucleotide Sequencing

Haplotypes

Population

被引量

期刊度量

Scopus度量

年份 CiteScore SJR SNIP
1996
1997
1998
1999 15.599 7.183
2000 11.917 6.845
2001 9.874 6.735
2002 10.114 7.208
2003 11.384 7.504
2004 11.222 7.523
2005 10.333 7.199
2006 9.702 7.156
2007 10.344 7.097
2008 13.17 7.321
2009 15.185 8.2
2010 16.465 8.23
2011 53.1 17.598 8.652
2012 51 17.546 8.409
2013 50.9 19.69 8.482
2014 49.9 18.78 7.946
2015 51.6 19.669 8.052
2016 49.2 18.389 7.901
2017 53.7 17.875 8.647
2018 55.7 16.345 9.448
2019 51 14.047 8.82
2020 55.9
2021

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