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Initial sequencing and analysis of the human genome

Eric S. LanderWhitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, MA 02142, USA. [email protected]Lauren LintonWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USABruce W. BirrenWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAChad NusbaumWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAMichael C. ZodyWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAJennifer BaldwinWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAKeri DevonWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAKen DewarWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAMichael P. DoyleWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAWilliam W. FitzhughWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USARoel FunkeWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USADiane GageWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAKatrina L. HarrisWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAAndrew HeafordWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAJohn G. HowlandWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USALisa KannWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAJessica A. LehoczkyWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAR Paul LevineWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAPaul McEwanWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAKevin McKernanWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAJames C. MeldrimWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAJill P. MesirovWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USACher MirandaWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAWilliam MorrisWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAJerome W. NaylorWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAChristina RaymondWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAMark RosettiWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USARalph SantosWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAAndrew SheridanWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USACarrie SougnezWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USANicole Stange-ThomannWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USANikola M. StojanovićWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAAravind SubramanianWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USADudley WymanWhitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USAJane RogersThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomJohn SulstonThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomR. AinscoughThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomStephan BeckThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomDavid BentleyThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomJohn H. BurtonThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomChristopher CleeThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomNigel CarterThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomAlan CoulsonThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomRebecca DeadmanThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomPanos DeloukasThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomAndrew DunhamThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomIan DunhamThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomRichard DurbinThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomLisa FrenchThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomDarren GrafhamThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomSimon G. GregoryThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomTim HubbardThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomSean HumphrayThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomAdrienne HuntThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomMatthew C. JonesThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomChristine LloydThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomAmanda A. McMurrayThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomLucy MatthewsThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomSimon MercerThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomSarah MilneThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomJames C. MullikinThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomAndrew J. MungallThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomR. W. PlumbThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomMark T. RossThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomR. ShownkeenThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomSarah SimsThe Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, CB10 1RQ, Cambridgeshire, United KingdomR WaterstonWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USARichard K. WilsonWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USALaDeana W. HillierWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAJohn D. McPhersonWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAMarco A. MarraWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAElaine R. MardisWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USALucinda A. FultonWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAAsif ChinwallaWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAKymberlie PepinWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAWarren GishWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAStephanie L. ChissoeWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAMichael C. WendlWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAKim D. DelehauntyWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USATracie L. MinerWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAAndrew DelehauntyWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAJason KramerWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USALisa L. CookWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USARobert S. FultonWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAD. JohnsonWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USAPatrick MinxWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USASandra W. CliftonWashington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, Missouri, USATrevor HawkinsUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USAElbert BranscombUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USAPaul PredkiUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USAPaul RichardsonUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USASarah WenningUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USATom SlezakUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USANorman A. DoggettUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USAJan‐Fang ChengUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USAAnne S. OlsenUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USASusan LucasUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USAChristopher J. ElkinUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USAEdward C. UberbacherUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USAM.E. FrazierUS DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, California, USA
2001en
ABI

Аннотация

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.

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