Initial sequencing and analysis of the human genome

被引：15997

作者：

Lander, ES

Int Human Genome Sequencing Consortium

Linton, LM

Birren, B

Nusbaum, C

Zody, MC

Baldwin, J

Devon, K

Dewar, K

Doyle, M

FitzHugh, W

Funke, R

Gage, D

Harris, K

Heaford, A

Howland, J

Kann, L

Lehoczky, J

LeVine, R

McEwan, P

McKernan, K

Meldrim, J

Mesirov, JP

Miranda, C

Morris, W

Naylor, J

Raymond, C

Rosetti, M

Santos, R

Sheridan, A

Sougnez, C

Stange-Thomann, N

Stojanovic, N

Subramanian, A

Wyman, D

Rogers, J

Sulston, J

Ainscough, R

Beck, S

Bentley, D

Burton, J

Clee, C

Carter, N

Coulson, A

Deadman, R

Deloukas, P

Dunham, A

Dunham, I

Durbin, R

French, L

机构：

[1] Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

[2] Sanger Ctr, Hinxton CB10 1RQ, Cambs, England

[3] Washington Univ, Genome Sequencing Ctr, St Louis, MO 63108 USA

[4] US DOE, Joint Genome Inst, Walnut Creek, CA 94598 USA

[5] Baylor Coll Med, Human Genome Sequencing Ctr, Dept Mol & Human Genet, Houston, TX 77030 USA

[6] Univ Texas, Hlth Sci Ctr, Dept Cellular & Struct Biol, San Antonio, TX 78229 USA

[7] Yeshiva Univ Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10461 USA

[8] Univ Texas, Sch Med, Dept Microbiol & Mol Genet, Houston, TX 77225 USA

[9] RIKEN, Genom Sci Ctr, Tsurumi Ku, Yokohama, Kanagawa 2300045, Japan

[10] Genoscope, F-91057 Evry, France

[11] CNRS, UMR 8030, F-91057 Evry, France

[12] Genome Therapeut Corp, GTC Sequencing Ctr, Waltham, MA 02453 USA

[13] Inst Mol Biotechnol, Dept Genome Anal, D-07745 Jena, Germany

[14] Chinese Acad Sci, Inst Genet, Ctr Human Genome, Beijing Genom Inst, Beijing 100101, Peoples R China

[15] So China Natl Human Genome Res Ctr, Shanghai 201203, Peoples R China

[16] No China Natl Human Genome Res Ctr, Beijing 100176, Peoples R China

[17] Inst Syst Biol, Multimegabase Sequencing Ctr, Seattle, WA 98105 USA

[18] Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA

[19] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

[20] Stanford Univ, Stanford Human Genome Ctrr, Sch Med, Stanford, CA 94305 USA

[21] Univ Washington, Genome Ctr, Seattle, WA 98195 USA

[22] Keio Univ, Sch Med, Dept Biol Mol, Shinjuku Ku, Tokyo 1608582, Japan

[23] Univ Texas, SW Med Ctr, Dallas, TX 75235 USA

[24] Univ Oklahoma, Adv Ctr Genome Technol, Dept Chem & Biochem, Norman, OK 73019 USA

[25] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[26] Cold Spring Harbor Lab, Lita Annenberg Hazen Genome Ctr, Cold Spring Harbor, NY 11724 USA

[27] GBF, German Res Ctr Biotechnol, D-38124 Braunschweig, Germany

[28] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

[29] Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA

[30] Univ Hosp Cleveland, Cleveland, OH 44106 USA

[31] EMBL, European Bioinformat Inst, Cambridge CB10 1SD, England

[32] Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

[33] MIT, Dept Biol, Cambridge, MA 02139 USA

[34] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA

[35] Univ Calif Santa Cruz, Dept Comp Sci, Santa Cruz, CA 95064 USA

[36] Affymetrix Inc, Berkeley, CA 94710 USA

[37] RIKEN, Yokoham Inst, Genom Sci Ctr, Genom Explorat Res Grp,Tsurumi Ku, Kanagawa 2300045, Japan

[38] Univ Calif Santa Cruz, Dept Comp Sci, Howard Hughes Med Inst, Santa Cruz, CA 95064 USA

[39] Univ Dublin Trinity Coll, Dept Genet, Smurfit Inst, Dublin 2, Ireland

[40] Compaq Comp Corp, Cambridge Res Lab, Cambridge, MA 02142 USA

[41] MIT, Genome Ctr, Cambridge, MA 02142 USA

[42] Univ Calif Santa Cruz, Dept Math, Santa Cruz, CA 95064 USA

[43] Univ Calif Santa Cruz, Dept Biol, Santa Cruz, CA 95064 USA

[44] Weizmann Inst Sci, Crown Human Genet Ctr, IL-71600 Rehovot, Israel

[45] Weizmann Inst Sci, Dept Mol Genet, IL-71600 Rehovot, Israel

[46] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

[47] Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA

[48] Univ Michigan, Sch Med, Dept Internal Med, Ann Arbor, MI 48109 USA

[49] Univ Oxford, Dept Human Anat & Genet, MRC, Funct Genet Unit, Oxford OX1 3QX, England

[50] Inst Syst Biol, Seattle, WA 98105 USA

来源：

NATURE | 2001年 / 409卷 / 6822期

关键词：

D O I：

10.1038/35057062

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：860 / 921

页数：62

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