Abstract

The Human Genome Project has transformed biology through its integrated big science approach to deciphering a reference human genome sequence along with the complete sequences of key model organisms. The project exemplifies the power, necessity and success of large, integrated, cross-disciplinary efforts - so-called ‘big science’ - directed towards complex major objectives. In this article, we discuss the ways in which this ambitious endeavor led to the development of novel technologies and analytical tools, and how it brought the expertise of engineers, computer scientists and mathematicians together with biologists. It established an open approach to data sharing and open-source software, thereby making the data resulting from the project accessible to all. The genome sequences of microbes, plants and animals have revolutionized many fields of science, including microbiology, virology, infectious disease and plant biology. Moreover, deeper knowledge of human sequence variation has begun to alter the practice of medicine. The Human Genome Project has inspired subsequent large-scale data acquisition initiatives such as the International HapMap Project, 1000 Genomes, and The Cancer Genome Atlas, as well as the recently announced Human Brain Project and the emerging Human Proteome Project.

Highlights

  • The Human Genome Project has transformed biology through its integrated big science approach to deciphering a reference human genome sequence along with the complete sequences of key model organisms

  • The idea of the Human Genome Project (HGP) was first publicly advocated by Renato Dulbecco in an article published in 1984, in which he argued that knowing the human genome sequence would facilitate an

  • The US Department of Energy (DOE) initially pushed for the HGP, partly using the argument that knowing the genome sequence would help us understand the radiation effects on the human genome resulting from exposure to atom bombs and other aspects of energy transmission [7]

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Summary

Hood L

2. Collins FS, McKusick VA: Implications of the Human Genome Project for medical science. 3. Green ED, Guyer MS, National Human Genome Research Institute: Charting a course for genomic medicine from base to bedside. 4. Dulbecco R: A turning point in cancer research: sequencing the human genome. 6. Cooke-Degan RM: The Gene Wars: Science, Politics and the Human Genome. 7. Report on the Human Genome Initiative for the Office of Health and Environmental Research. 8. National Academy of Science: Report of the Committee on Mapping and Sequencing the Human Genome. The United States Human Genome Project, The First Five Years: Fiscal Years. Collins FS, Galas D: A new five-year plan for the U.S Human Genome Program.

16. International Human Genome Sequencing Consortium
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Findings
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