>An Introduction

The U.S. Human Genome Project (HGP), composed of the DOE and NIH Human Genome Programs, is the national coordinated effort to characterize all human genetic material by determining the complete sequence of the DNA in the human genome. The HGP's ultimate goal has been to discover all the more than 30,000 human genes and render them accessible for further biological study. To facilitate the future interpretation of human gene function, parallel studies have been carried out on selected model organisms. View timeline and history for background information on the project.

The HGP will meet an ambitious schedule to complete the full sequence in 2003, two years ahead of previous projections. Technology available shortly after the start of the HGP in 1990 could have been used to attain HGP objectives, but the cost and time required would have been unacceptable. Because of this, a major emphasis of the project's early years was to optimize existing methods and develop new technologies to increase DNA mapping and sequencing efficiency by 10- to 20-fold. The genome was sequenced with technologies and methods that evolved over the past 10 years.

In the course of completing the sequence, an interim "working draft" of the human sequence was produced and published in Nature (15 February, 2001) simultaneously with a companion publication of the human sequence generated by Celera Genomics Corporation (Science, 16 February, 2001). Other goals have involved further improving sequencing technologies; studying human genome sequence variation, both at the level of single nucleotides (single nucleotide polymorphisms, or SNPs) and entire chromosomal segments, referred to as haplotypes; sequencing the mouse, rat, frog, pufferfish, and sea squirt genomes; and sequencing of additional microbial genomes. All this supports ongoing efforts in comparative genomics, the most powerful way to elucidate the roles of the many related genes observed in the genomes of these model organisms. The DOE Human Genome Program also has developed high-throughput approaches to identify cis-regulatory sequences in the human and other genomes, based on shared nonprotein-coding sequences in the genomes of such evolutionarily diverse organisms as the sea squirt (Ciona intestinalis), the pufferfish (Fugu rupribes), and the frog (Xenopus tropicalis). Additional longstanding elements of the DOE Human Genome Program have included studies of the ethical, legal, and social implications (ELSI) of genome research; bioinformatics and computational biology; training genome scientists; and encouraging cross-disciplinary interest in genome research by scientists in disciplines such as physics, engineering, and computation.

The DOE Human Genome Program has supported research projects at universities, the DOE Joint Genome Institute, DOE-owned national laboratories, and other research organizations. As part of the international Human Genome Project, vital and very active genome research also has been pursued by researchers and science-funding agencies outside the United States.

Information obtained as part of the HGP will dramatically change almost all biological and medical research and dwarf the catalog of current genetic knowledge. Both the methods and data developed through the project are likely to benefit investigations of many other genomes, including a large number of commercially important plants and animals. In a related project to sequence the genomes of environmentally and industrially interesting microbes, in 1994 DOE initiated the Microbial Genome Program. For this reason, in addition to the DOE and NIH programs, genome research is being carried out at agencies such as the U.S. Department of Agriculture, the National Science Foundation, and the private sector.

For more details, see

• Human Genome Project Information
• DOE Genome Research (2000 and 2002 human and microbial research abstracts)
• Science of genetics related to the Human Genome Project
• History of the DOE Human Genome Program
• Publications about the HGP
  • 2002 DOE HGP Abstracts
  • A Vital Legacy (downloads a pdf file)
  • To Know Ourselves
  • Primer on Molecular Genetics
  • Others

     

    Contact for additional information

    Human Genome Management Information System
    Oak Ridge National Laboratory
    1060 Commerce Park MS 6480
    Oak Ridge, TN 37830
    Telephone: 865/576-6669
    Fax: 865/574-9888
    URL: www.ornl.gov/hgmis

    Program Office Address

    Life Sciences Division
    Office of Biological and Environmental Research
    Office of Science
    ME-2221/Germantown Bldg.
    U. S. Department of Energy
    1000 Independence Ave., SW
    Washington, DC 20585-1290
    Telephone: 301/903-6488
    Fax: 301/903-8521
    E-mail: genome@science.doe.gov

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