Initial sequencing and analysis of the human genome : Article : Nature

Initial sequencing and analysis of the human genome : Article : Nature

Human Genome

Nature 409, 860-921 (15 February 2001) | doi:10.1038/35057062; Received 7 December 2000; Accepted 9 January 2001

articleInitial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium Eric S. Lander¹, Lauren M. Linton¹, Bruce Birren¹, Chad Nusbaum¹, Michael C. Zody¹, Jennifer Baldwin¹, Keri Devon¹, Ken Dewar¹, Michael Doyle¹, William FitzHugh¹, Roel Funke¹, Diane Gage¹, Katrina Harris¹, Andrew Heaford¹, John Howland¹, Lisa Kann¹, Jessica Lehoczky¹, Rosie LeVine¹, Paul McEwan¹, Kevin McKernan¹, James Meldrim¹, Jill P. Mesirov¹, Cher Miranda¹, William Morris¹, Jerome Naylor¹, Christina Raymond¹, Mark Rosetti¹, Ralph Santos¹, Andrew Sheridan¹, Carrie Sougnez¹, Nicole Stange-Thomann¹, Nikola Stojanovic¹, Aravind Subramanian¹ & Dudley Wyman¹ for Whitehead Institute for Biomedical Research, Center for Genome Research:, Jane Rogers², John Sulston², Rachael Ainscough², Stephan Beck², David Bentley², John Burton², Christopher Clee², Nigel Carter², Alan Coulson², Rebecca Deadman², Panos Deloukas², Andrew Dunham², Ian Dunham², Richard Durbin², Lisa French², Darren Grafham², Simon Gregory², Tim Hubbard², Sean Humphray², Adrienne Hunt², Matthew Jones², Christine Lloyd², Amanda McMurray², Lucy Matthews², Simon Mercer², Sarah Milne², James C. Mullikin², Andrew Mungall², Robert Plumb², Mark Ross², Ratna Shownkeen² & Sarah Sims² for The Sanger Centre:, Robert H. Waterston³, Richard K. Wilson³, LaDeana W. Hillier³, John D. McPherson³, Marco A. Marra³, Elaine R. Mardis³, Lucinda A. Fulton³, Asif T. Chinwalla³, Kymberlie H. Pepin³, Warren R. Gish³, Stephanie L. Chissoe³, Michael C. Wendl³, Kim D. Delehaunty³, Tracie L. Miner³, Andrew Delehaunty³, Jason B. Kramer³, Lisa L. Cook³, Robert S. Fulton³, Douglas L. Johnson³, Patrick J. Minx³ & Sandra W. Clifton³ for Washington University Genome Sequencing Center, Trevor Hawkins⁴, Elbert Branscomb⁴, Paul Predki⁴, Paul Richardson⁴, Sarah Wenning⁴, Tom Slezak⁴, Norman Doggett⁴, Jan-Fang Cheng⁴, Anne Olsen⁴, Susan Lucas⁴, Christopher Elkin⁴, Edward Uberbacher⁴ & Marvin Frazier⁴ for US DOE Joint Genome Institute:, Richard A. Gibbs⁵, Donna M. Muzny⁵, Steven E. Scherer⁵, John B. Bouck⁵, Erica J. Sodergren⁵, Kim C. Worley⁵, Catherine M. Rives⁵, James H. Gorrell⁵, Michael L. Metzker⁵, Susan L. Naylor⁶, Raju S. Kucherlapati⁷, David L. Nelson & George M. Weinstock⁸ for Baylor College of Medicine Human Genome Sequencing Center:, Yoshiyuki Sakaki⁹, Asao Fujiyama⁹, Masahira Hattori⁹, Tetsushi Yada⁹, Atsushi Toyoda⁹, Takehiko Itoh⁹, Chiharu Kawagoe⁹, Hidemi Watanabe⁹, Yasushi Totoki⁹ & Todd Taylor⁹ for RIKEN Genomic Sciences Center:, Jean Weissenbach¹⁰, Roland Heilig¹⁰, William Saurin¹⁰, Francois Artiguenave¹⁰, Philippe Brottier¹⁰, Thomas Bruls¹⁰, Eric Pelletier¹⁰, Catherine Robert¹⁰ & Patrick Wincker¹⁰ for Genoscope and CNRS UMR-8030:, André Rosenthal¹², Matthias Platzer¹², Gerald Nyakatura¹², Stefan Taudien¹² & Andreas Rump¹² for Department of Genome Analysis, Institute of Molecular Biotechnology:, Douglas R. Smith¹¹, Lynn Doucette-Stamm¹¹, Marc Rubenfield¹¹, Keith Weinstock¹¹, Hong Mei Lee¹¹ & JoAnn Dubois¹¹ for GTC Sequencing Center:, Huanming Yang¹³, Jun Yu¹³, Jian Wang¹³, Guyang Huang¹⁴ & Jun Gu¹⁵ for Beijing Genomics Institute/Human Genome Center:, Leroy Hood¹⁶, Lee Rowen¹⁶, Anup Madan¹⁶ & Shizen Qin¹⁶for Multimegabase Sequencing Center, The Institute for Systems Biology:, Ronald W. Davis¹⁷, Nancy A. Federspiel¹⁷, A. Pia Abola¹⁷ & Michael J. Proctor¹⁷for Stanford Genome Technology Center:, Bruce A. Roe²², Feng Chen²² & Huaqin Pan²² for University of Oklahoma's Advanced Center for Genome Technology:, Juliane Ramser²³, Hans Lehrach²³ & Richard Reinhardt²³ for Max Planck Institute for Molecular Genetics:, W. Richard McCombie²⁴, Melissa de la Bastide²⁴ & Neilay Dedhia²⁴ for Cold Spring Harbor Laboratory, Lita Annenberg Hazen Genome Center:, Helmut Blöcker²⁵, Klaus Hornischer²⁵ & Gabriele Nordsiek²⁵ for GBF—German Research Centre for Biotechnology:, Richa Agarwala²⁶, L. Aravind²⁶, Jeffrey A. Bailey²⁷, Alex Bateman², Serafim Batzoglou¹, Ewan Birney²⁸, Peer Bork^29,30, Daniel G. Brown¹, Christopher B. Burge³¹, Lorenzo Cerutti²⁸, Hsiu-Chuan Chen²⁶, Deanna Church²⁶, Michele Clamp², Richard R. Copley³⁰, Tobias Doerks^29,30, Sean R. Eddy³², Evan E. Eichler²⁷, Terrence S. Furey³³, James Galagan¹, James G. R. Gilbert², Cyrus Harmon³⁴, Yoshihide Hayashizaki³⁵, David Haussler³⁶, Henning Hermjakob²⁸, Karsten Hokamp³⁷, Wonhee Jang²⁶, L. Steven Johnson³², Thomas A. Jones³², Simon Kasif³⁸, Arek Kaspryzk²⁸, Scot Kennedy³⁹, W. James Kent⁴⁰, Paul Kitts²⁶, Eugene V. Koonin²⁶, Ian Korf³, David Kulp³⁴, Doron Lancet⁴¹, Todd M. Lowe⁴², Aoife McLysaght³⁷, Tarjei Mikkelsen³⁸, John V. Moran⁴³, Nicola Mulder²⁸, Victor J. Pollara¹, Chris P. Ponting⁴⁴, Greg Schuler²⁶, Jörg Schultz³⁰, Guy Slater²⁸, Arian F. A. Smit⁴⁵, Elia Stupka²⁸, Joseph Szustakowki³⁸, Danielle Thierry-Mieg²⁶, Jean Thierry-Mieg²⁶, Lukas Wagner²⁶, John Wallis³, Raymond Wheeler³⁴, Alan Williams³⁴, Yuri I. Wolf²⁶, Kenneth H. Wolfe³⁷, Shiaw-Pyng Yang³ & Ru-Fang Yeh³¹ for *Genome Analysis Group (listed in alphabetical order, also includes individuals listed under other headings):, Francis Collins⁴⁶, Mark S. Guyer⁴⁶, Jane Peterson⁴⁶, Adam Felsenfeld⁴⁶ & Kris A. Wetterstrand⁴⁶for Scientific management: National Human Genome Research Institute, US National Institutes of Health:, Richard M. Myers¹⁸, Jeremy Schmutz¹⁸, Mark Dickson¹⁸, Jane Grimwood¹⁸ & David R. Cox¹⁸ for Stanford Human Genome Center:, Maynard V. Olson¹⁹, Rajinder Kaul¹⁹ & Christopher Raymond¹⁹ for University of Washington Genome Center:, Nobuyoshi Shimizu²⁰, Kazuhiko Kawasaki²⁰ & Shinsei Minoshima²⁰ for Department of Molecular Biology, Keio University School of Medicine:, Glen A. Evans^21,, Maria Athanasiou²¹ & Roger Schultz²¹ for University of Texas Southwestern Medical Center at Dallas:, Aristides Patrinos⁴⁷ for Office of Science, US Department of Energy: & Michael J. Morgan⁴⁸ for The Wellcome Trust:

^aPresent addresses: Genome Sequencing Project, Egea Biosciences, Inc., 4178 Sorrento Valley Blvd., Suite F, San Diego, CA92121, USA (G.A.E.); INRA, Station d’Amélioration des Plantes, 63039Clermont-Ferrand Cedex 2, France (L.C.).

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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.