Human Genome

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

Initial 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 Qin16 for Multimegabase Sequencing Center, The Institute for Systems Biology:, Ronald W. Davis17, Nancy A. Federspiel17, A. Pia Abola17 & Michael J. Proctor17 for 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 Bork29,30, Daniel G. Brown1, Christopher B. Burge31, Lorenzo Cerutti28, Hsiu-Chuan Chen26, Deanna Church26, Michele Clamp2, Richard R. Copley30, Tobias Doerks29,30, 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. Wetterstrand46 for 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. Evans21,, 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.).

Top

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.

  1. Whitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA
  2. The Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1RQ, United Kingdom
  3. Washington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, Missouri 63108, USA
  4. US DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, California 94598, USA
  5. Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics, One Baylor Plaza, Houston, Texas 77030, USA;
  6. Department of Cellular and Structural Biology, The University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, San Antonio, Texas 78229-3900, USA;
  7. Department of Molecular Genetics, Albert Einstein College of Medicine, 1635 Poplar Street, Bronx, New York 10461, USA;
  8. Baylor College of Medicine Human Genome Sequencing Center and the Department of Microbiology & Molecular Genetics, University of Texas Medical School, PO Box 20708, Houston, Texas 77225, USA
  9. RIKEN Genomic Sciences Center, 1-7-22 Suehiro-cho, Tsurumi-ku Yokohama-city, Kanagawa 230-0045, Japan
  10. Genoscope and CNRS UMR-8030, 2 Rue Gaston Cremieux, CP 5706, 91057 Evry Cedex, France
  11. GTC Sequencing Center, Genome Therapeutics Corporation, 100 Beaver Street, Waltham, Massachusetts 02453-8443, USA
  12. Department of Genome Analysis, Institute of Molecular Biotechnology, Beutenbergstrasse 11, D-07745 Jena, Germany
  13. Beijing Genomics Institute/Human Genome Center, Institute of Genetics, Chinese Academy of Sciences, Beijing 100101, China;
  14. Southern China National Human Genome Research Center, Shanghai 201203, China;
  15. Northern China National Human Genome Research Center, Beijing 100176, China
  16. Multimegabase Sequencing Center, The Institute for Systems Biology, 4225 Roosevelt Way, NE Suite 200, Seattle, Washington 98105, USA
  17. Stanford Genome Technology Center, 855 California Avenue, Palo Alto, California 94304, USA
  18. Stanford Human Genome Center and Department of Genetics, Stanford University School of Medicine, Stanford, California 94305-5120, USA
  19. University of Washington Genome Center, 225 Fluke Hall on Mason Road, Seattle, Washington 98195, USA
  20. Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan
  21. University of Texas Southwestern Medical Center at Dallas, 6000 Harry Hines Blvd., Dallas, Texas 75235-8591, USA
  22. University of Oklahoma's Advanced Center for Genome Technology, Dept. of Chemistry and Biochemistry, University of Oklahoma, 620 Parrington Oval, Rm 311, Norman, Oklahoma 73019, USA
  23. Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
  24. Cold Spring Harbor Laboratory, Lita Annenberg Hazen Genome Center, 1 Bungtown Road, Cold Spring Harbor, New York 11724, USA
  25. GBF - German Research Centre for Biotechnology, Mascheroder Weg 1, D-38124 Braunschweig, Germany
  26. National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bldg. 38A, 8600 Rockville Pike, Bethesda, Maryland 20894, USA;
  27. Department of Genetics, Case Western Reserve School of Medicine and University Hospitals of Cleveland, BRB 720, 10900 Euclid Ave., Cleveland, Ohio 44106, USA;
  28. EMBL European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom;
  29. Max Delbrück Center for Molecular Medicine, Robert-Rossle-Strasse 10, 13125 Berlin-Buch, Germany;
  30. EMBL, Meyerhofstrasse 1, 69012 Heidelberg, Germany;
  31. Dept. of Biology, Massachusetts Institute of Technology, 77 Massachusetts Ave., Cambridge, Massachusetts 02139-4307, USA;
  32. Howard Hughes Medical Institute, Dept. of Genetics, Washington University School of Medicine, Saint Louis, Missouri 63110, USA;
  33. Dept. of Computer Science, University of California at Santa Cruz, Santa Cruz, California 95064, USA;
  34. Affymetrix, Inc., 2612 8th St, Berkeley, California 94710, USA;
  35. Genome Exploration Research Group, Genomic Sciences Center, RIKEN Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan;
  36. Howard Hughes Medical Institute, Department of Computer Science, University of California at Santa Cruz, California 95064, USA;
  37. University of Dublin, Trinity College, Department of Genetics, Smurfit Institute, Dublin 2, Ireland;
  38. Cambridge Research Laboratory, Compaq Computer Corporation and MIT Genome Center, 1 Cambridge Center, Cambridge, Massachusetts 02142, USA;
  39. Dept. of Mathematics, University of California at Santa Cruz, Santa Cruz, California 95064, USA;
  40. Dept. of Biology, University of California at Santa Cruz, Santa Cruz, California 95064, USA;
  41. Crown Human Genetics Center and Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot 71600, Israel;
  42. Dept. of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA;
  43. The University of Michigan Medical School, Departments of Human Genetics and Internal Medicine, Ann Arbor, Michigan 48109, USA;
  44. MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK;
  45. Institute for Systems Biology, 4225 Roosevelt Way NE, Seattle, WA 98105, USA
  46. National Human Genome Research Institute, US National Institutes of Health, 31 Center Drive, Bethesda, Maryland 20892, USA;
  47. Office of Science, US Department of Energy, 19901 Germantown Road, Germantown, Maryland 20874, USA;
  48. The Wellcome Trust, 183 Euston Road, London, NW1 2BE, UK.

Correspondence to: Correspondence and requests for materials should be addressed to E. S. Lander (e-mail: Email: lander@genome.wi.mit.edu), R. H. Waterston (e-mail: Email: bwaterst@watson.wustl.edu), J. Sulston (e-mail: Email: jes@sanger.ac.uk) or F. S. Collins (e-mail: Email: fc23a@nih.gov).