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. 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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. 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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
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.
医学与生命科学
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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