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.

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).