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Initial sequencing and analysis of the human genome

Nature · 2001 · Vol. 409(6822) · pp. 860–921

Eric S. Lander✉(Whitehead Institute for Biomedical Research)Lauren Linton(Whitehead Institute for Biomedical Research)Bruce W. Birren(Whitehead Institute for Biomedical Research)Chad Nusbaum(Whitehead Institute for Biomedical Research)Michael C. Zody(Whitehead Institute for Biomedical Research)Jennifer Baldwin(Whitehead Institute for Biomedical Research)Keri Devon(Whitehead Institute for Biomedical Research)Ken Dewar(Whitehead Institute for Biomedical Research)Michael P. Doyle(Whitehead Institute for Biomedical Research)William W. Fitzhugh(Whitehead Institute for Biomedical Research)Roel Funke(Whitehead Institute for Biomedical Research)Diane Gage(Whitehead Institute for Biomedical Research)Katrina L. Harris(Whitehead Institute for Biomedical Research)Andrew Heaford(Whitehead Institute for Biomedical Research)John G. Howland(Whitehead Institute for Biomedical Research)Lisa Kann(Whitehead Institute for Biomedical Research)Jessica A. Lehoczky(Whitehead Institute for Biomedical Research)R Paul Levine(Whitehead Institute for Biomedical Research)Paul McEwan(Whitehead Institute for Biomedical Research)Kevin McKernan(Whitehead Institute for Biomedical Research)James C. Meldrim(Whitehead Institute for Biomedical Research)Jill P. Mesirov(Whitehead Institute for Biomedical Research)Cher Miranda(Whitehead Institute for Biomedical Research)William Morris(Whitehead Institute for Biomedical Research)Jerome W. Naylor(Whitehead Institute for Biomedical Research)Christina Raymond(Whitehead Institute for Biomedical Research)Mark Rosetti(Whitehead Institute for Biomedical Research)Ralph Santos(Whitehead Institute for Biomedical Research)Andrew Sheridan(Whitehead Institute for Biomedical Research)Carrie Sougnez(Whitehead Institute for Biomedical Research)Nicole Stange-Thomann(Whitehead Institute for Biomedical Research)Nikola M. Stojanović(Whitehead Institute for Biomedical Research)Aravind Subramanian(Whitehead Institute for Biomedical Research)Dudley Wyman(Whitehead Institute for Biomedical Research)Jane Rogers(Wellcome Sanger Institute)John Sulston(Wellcome Sanger Institute)R. Ainscough(Wellcome Sanger Institute)Stephan Beck(Wellcome Sanger Institute)David Bentley(Wellcome Sanger Institute)John H. Burton(Wellcome Sanger Institute)Christopher Clee(Wellcome Sanger Institute)Nigel Carter(Wellcome Sanger Institute)Alan Coulson(Wellcome Sanger Institute)Rebecca Deadman(Wellcome Sanger Institute)Panos Deloukas(Wellcome Sanger Institute)Andrew Dunham(Wellcome Sanger Institute)Ian Dunham(Wellcome Sanger Institute)Richard Durbin(Wellcome Sanger Institute)Lisa French(Wellcome Sanger Institute)Darren Grafham(Wellcome Sanger Institute)Simon G. Gregory(Wellcome Sanger Institute)Tim Hubbard(Wellcome Sanger Institute)Sean Humphray(Wellcome Sanger Institute)Adrienne Hunt(Wellcome Sanger Institute)Matthew C. Jones(Wellcome Sanger Institute)Christine Lloyd(Wellcome Sanger Institute)Amanda A. McMurray(Wellcome Sanger Institute)Lucy Matthews(Wellcome Sanger Institute)Simon Mercer(Wellcome Sanger Institute)Sarah Milne(Wellcome Sanger Institute)James C. Mullikin(Wellcome Sanger Institute)Andrew J. Mungall(Wellcome Sanger Institute)R. W. Plumb(Wellcome Sanger Institute)Mark T. Ross(Wellcome Sanger Institute)R. Shownkeen(Wellcome Sanger Institute)Sarah Sims(Wellcome Sanger Institute)R Waterston✉(Washington University in St. Louis)Richard K. Wilson(Washington University in St. Louis)LaDeana W. Hillier(Washington University in St. Louis)John D. McPherson(Washington University in St. Louis)Marco A. Marra(Washington University in St. Louis)Elaine R. Mardis(Washington University in St. Louis)Lucinda A. Fulton(Washington University in St. Louis)Asif Chinwalla(Washington University in St. Louis)Kymberlie Pepin(Washington University in St. Louis)Warren Gish(Washington University in St. Louis)Stephanie L. Chissoe(Washington University in St. Louis)Michael C. Wendl(Washington University in St. Louis)Kim D. Delehaunty(Washington University in St. Louis)Tracie L. Miner(Washington University in St. Louis)Andrew Delehaunty(Washington University in St. Louis)Jason Kramer(Washington University in St. Louis)Lisa L. Cook(Washington University in St. Louis)Robert S. Fulton(Washington University in St. Louis)D. Johnson(Washington University in St. Louis)Patrick Minx(Washington University in St. Louis)Sandra W. Clifton(Washington University in St. Louis)Trevor Hawkins(Joint Genome Institute)Elbert Branscomb(Joint Genome Institute)Paul Predki(Joint Genome Institute)Paul Richardson(Joint Genome Institute)Sarah Wenning(Joint Genome Institute)Tom Slezak(Joint Genome Institute)Norman A. Doggett(Joint Genome Institute)Jan‐Fang Cheng(Joint Genome Institute)Anne S. Olsen(Joint Genome Institute)Susan Lucas(Joint Genome Institute)Christopher J. Elkin(Joint Genome Institute)Edward C. Uberbacher(Joint Genome Institute)M.E. Frazier(Joint Genome Institute)Richard A. Gibbs(Baylor College of Medicine)Donna M. Muzny(Baylor College of Medicine)Steven E. Scherer(Baylor College of Medicine)John Bouck(Baylor College of Medicine)Erica Sodergren(Baylor College of Medicine)Kim C. Worley(Baylor College of Medicine)Catherine Rives(Baylor College of Medicine)James H. Gorrell(Baylor College of Medicine)Michael L. Metzker(Baylor College of Medicine)Susan L. Naylor(The University of Texas Health Science Center at San Antonio)Raju Kucherlapati(Albert Einstein College of Medicine)David L. NelsonGeorge M. Weinstock(Baylor College of Medicine)Yoshiyuki Sakaki(RIKEN Center for Integrative Medical Sciences)Asao Fujiyama(RIKEN Center for Integrative Medical Sciences)Masahira Hattori(RIKEN Center for Integrative Medical Sciences)Tetsushi Yada(RIKEN Center for Integrative Medical Sciences)Atsushi Toyoda(RIKEN Center for Integrative Medical Sciences)Takehiko Itoh(RIKEN Center for Integrative Medical Sciences)Chiharu Kawagoe(RIKEN Center for Integrative Medical Sciences)Hidemi Watanabe(RIKEN Center for Integrative Medical Sciences)Yasushi Totoki(RIKEN Center for Integrative Medical Sciences)Todd D. Taylor(RIKEN Center for Integrative Medical Sciences)Genoscope and CNRS UMR-8030:(Centre National de la Recherche Scientifique)Jean Weissenbach(Centre National de la Recherche Scientifique)Roland Heilig(Centre National de la Recherche Scientifique)William Saurin(Centre National de la Recherche Scientifique)François Artiguenave(Centre National de la Recherche Scientifique)Philippe Brottier(Centre National de la Recherche Scientifique)Thomas Brüls(Centre National de la Recherche Scientifique)Éric Pelletier(Centre National de la Recherche Scientifique)Catherine Robert(Centre National de la Recherche Scientifique)Patrick WinckerAndré RosenthalMatthias PlatzerGerald NyakaturaStefan TaudienAndreas Rump(NKT Therapeutics (United States))Andrew R. Smith(NKT Therapeutics (United States))Lynn Doucette‐Stamm(NKT Therapeutics (United States))Marc Rubenfield(NKT Therapeutics (United States))Keith G. Weinstock(NKT Therapeutics (United States))Hong Mei Lee(NKT Therapeutics (United States))JoAnn Dubois(BGI Group (China))Huanming Yang(BGI Group (China))Jun Yu(BGI Group (China))Jian Wang(Chinese National Human Genome Center at Shanghai)Guyang Matthew Huang(Chinese National Human Genome Center)Jun Gu(Institute for Systems Biology)Leroy Hood(Institute for Systems Biology)Lee Rowen(Institute for Systems Biology)Anup Madan(Institute for Systems Biology)Shizen Qin(New York Genome Center)Ronald Davis(New York Genome Center)Nancy A. Federspiel(New York Genome Center)A. Pia Abola(New York Genome Center)Michael Proctor(University of Oklahoma)Bruce A. Roe(University of Oklahoma)Feng Chen(University of Oklahoma)Huaqin Pan(Max Planck Institute for Molecular Genetics)Juliane Ramser(Max Planck Institute for Molecular Genetics)Hans Lehrach(Max Planck Institute for Molecular Genetics)Richard Reinhardt(Cold Spring Harbor Laboratory)W. Richard McCombie(Cold Spring Harbor Laboratory)M. de la Bastide(Cold Spring Harbor Laboratory)Neilay Dedhia(Helmholtz Centre for Infection Research)Helmut Blöcker(Helmholtz Centre for Infection Research)Klaus Hornischer(Helmholtz Centre for Infection Research)Gabriele Nordsiek(National Institutes of Health)*Genome Analysis Group (listed in alphabetical order, also includes individuals listed under other headings):(National Institutes of Health)Richa Agarwala(University Hospitals of Cleveland)L. Aravind(Wellcome Sanger Institute)Jeffrey A. Bailey(Whitehead Institute for Biomedical Research)Alex Bateman(European Bioinformatics Institute)Serafim Batzoglou(Max Delbrück Center)Ewan Birney(Whitehead Institute for Biomedical Research)Peer Bork(Massachusetts Institute of Technology)Daniel G. Brown(European Bioinformatics Institute)Christopher B. Burge(National Institutes of Health)Lorenzo Cerutti(National Institutes of Health)Hsiu-Chuan Chen(Wellcome Sanger Institute)Deanna M. Church(European Molecular Biology Organization)Michèle Clamp(Max Delbrück Center)Richard R. Copley(Howard Hughes Medical Institute)Tobias Doerks(University Hospitals of Cleveland)Sean R. Eddy(University of California, Santa Cruz)Evan E. Eichler(Whitehead Institute for Biomedical Research)Terrence S. Furey(Wellcome Sanger Institute)James E. GalaganJames Gilbert(RIKEN Center for Integrative Medical Sciences)Cyrus L. Harmon(Howard Hughes Medical Institute)Yoshihide Hayashizaki(European Bioinformatics Institute)David Haussler(Trinity College Dublin)Henning Hermjakob(National Institutes of Health)Karsten Hokamp(Howard Hughes Medical Institute)Wonhee Jang(Howard Hughes Medical Institute)L. Steven JohnsonThomas A. Jones(European Bioinformatics Institute)Simon Kasif(University of California, Santa Cruz)Arek Kaspryzk(University of California, Santa Cruz)Scot Kennedy(National Institutes of Health)W. James Kent(National Institutes of Health)Paul Kitts(Washington University in St. Louis)Eugene V. KooninIan Korf(Weizmann Institute of Science)David Kulp(Stanford University)Doron Lancet(Trinity College Dublin)Todd M. LoweAoife McLysaght(University of Michigan)Tarjei S. Mikkelsen(European Bioinformatics Institute)John V. Moran(Whitehead Institute for Biomedical Research)Nicola Mulder(University of Oxford)Victor J. Pollara(National Institutes of Health)Chris P. Ponting(European Molecular Biology Organization)Greg Schuler(European Bioinformatics Institute)Jörg Schultz(Theodore Roosevelt High School)Guy Slater(European Bioinformatics Institute)Arian F. A. SmitElia Stupka(National Institutes of Health)Joseph Szustakowki(National Institutes of Health)Danielle Thierry‐Mieg(National Institutes of Health)Jean Thierry‐Mieg(Washington University in St. Louis)Lukas WagnerJohn WallisRaymond M. Wheeler(National Institutes of Health)Alan J. Williams(Trinity College Dublin)Yuri I. Wolf(Washington University in St. Louis)Kenneth H. Wolfe(Massachusetts Institute of Technology)Shiaw-Pyng Yang✉(National Institutes of Health)Ru-Fang Yeh(National Institutes of Health)Francis S. Collins(National Institutes of Health)Mark S. Guyer(National Institutes of Health)Jane L. Peterson(National Institutes of Health)Adam L. Felsenfeld(Stanford University)Kris A. Wetterstrand(Stanford University)R Myers(Stanford University)Jeremy Schmutz(Stanford University)Mark Dickson(Stanford University)Jane Grimwood(University of Washington)David R. Cox(University of Washington)Maynard V. Olson(University of Washington)Rajinder Kaul(Keio University Hospital)Christopher K. Raymond(Keio University Hospital)Nobuyoshi Shimizu(Keio University Hospital)Kazuhiko Kawasaki(Département Biologie et Amélioration des Plantes)Satoshi Minoshima(The University of Texas Southwestern Medical Center)Glen A. Evans(The University of Texas Southwestern Medical Center)Μαρία Αθανασίου(Office of Science)Roger A. Schultz(Wellcome Trust)A.A.N. PatrinosThe Wellcome Trust:Michael J. Morgan

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Abstract

The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.

RNA and protein synthesis mechanisms Genomics and Phylogenetic Studies Genomics and Chromatin DynamicsHuman genomeGenomeSequence (biology)Computational biologyWhole genome sequencingBiologyDNA sequencingEvolutionary biologyData scienceGenetics

MeSH terms

AnimalsChromosome MappingDNA Transposable ElementsDrug IndustryForecastingGenesGenetics, MedicalHumansMutationProteinsRepetitive Sequences, Nucleic AcidRNASpecies SpecificityGenome, HumanHuman Genome Project