Online Education Kit: 2001: First Draft of the Human Genome Sequence Released

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

2001: First Draft of the Human Genome Sequence Released

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The Human Genome Project international consortium published a first draft and initial analysis of the human genome sequence. The draft sequence covered more than 90 percent of the human genome. One surprise is that the estimated number of genes was lower than expected, just 30,000-35,000. (The final genome sequence produced in 2003 has further lowered this estimate to the 20,000-25,000 range) The sequence data was immediately and freely released to the world. Researchers can access the data through public databases on the Internet and can use the information without restriction. At the same time, another version of the humane genome sequence was published by J. Craig Venter and colleagues working at Celera Genomics Corporation.

The effort to sequence the human genome has been referred to as biology's moonshot. The International Human Genome Sequencing Consortium included hundreds of researchers working at 20 centers located in China, France, Germany, Great Britain, Japan, and the United States. The centers producing the most sequence data were: Baylor College of Medicine, Houston, TX; Washington School of Medicine, St. Louis, MO; Whitehead Institute/MIT Center for Genome Research, Cambridge, MA; the Department of Energy's Joint Genome Institute, Walnut Creek, CA; and The Wellcome Trust Sanger Institute near Cambridge, England. In the United States the effort was led by the National Human Genome Research Institute and the Department of Energy.

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Summary Data Taken from the Draft Sequence of the Human Genome:

The draft sequence of the human genome contains some small gaps that remain to be filled. Nevertheless, scientists have already begun the process of analyzing the data. Some of the important observations were:


International Human Genome Consortium. Initial sequencing and analysis of the human genome. Nature, 409: 860-921. 2001. [PubMed]

Venter, J.C. Adams, M.D., Myers, E.W., Li, P.W., Mural, R.J., et al. The sequence of the human genome. Science, 291: 1304-1351. 2001. [PubMed]

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Last Reviewed: July 29, 2013