Progress, and Applications
of the Human Genome Project
Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News, April-June 1996; 7(6)
The NIH National Center for Human Genome Research (NCHGR) recently announced a pilot study to explore the feasibility of large-scale sequencing of human DNA. This initiative, which is budgeted at $60 million over 3 years, involves six U.S. research centers and is projected to produce the sequence of about 3% of human DNA in the first 2 years.
The pilot study is designed to show whether large-scale sequencing can be done rapidly, accurately, and cost-effectively using current strategies and variations. Groups participating in the pilot project will strive for an error rate of no more than 1 per 10,000 bases, or 99.99% accuracy, in all regions of the genome. The immediate challenge is to refine strategies needed to determine the order of the 3 billion bases in the genome, analyze the information, and present it to the rest of the biomedical research community.
Principal investigators, first-year grants, and individual project goals follow.
Mark Adams (The Institute for Genomic Research): Sequence human DNA on the chromosome 16 short arm; create DNA libraries and develop software for sample tracking, data management, and automation of sequence data assembly.
Richard A. Gibbs (Baylor College of Medicine): Explore the structure of chromosome X regions of high and low gene density and test a novel strategy to reduce the number of sequencing reactions needed to complete a region of DNA with high accuracy.
Eric Lander (Whitehead Institute for Biomedical Research): Develop an exportable robotic system, operated by a relatively small team, with the capacity to sequence human DNA rapidly, accurately, and cost-effectively; focusing first on chromosomes 9 and 17, develop automation to convert the physical map to the map required for sequencing.
Richard Myers (Stanford University): Test a directed strategy that requires more up-front mapping but less complex computation to sequence regions of chromosomes 4 and 21; in collaboration with industrial partners, develop enzymes to improve up-front mapping and DNA chips to verify the sequence.
Maynard Olson (University of Washington, Seattle): Apply critical technologies identified by the group to sequencing regions of chromosome 7. In a complementary parallel project sponsored by DOE, Olson's group will develop additional technology and will sequence regions of other chromosomes.
Robert Waterston (Washington University, St. Louis): Sequence 60 to 100 Mb of human chromosomes 7, 22, and X; test modular management structure for large-scale genome sequencing. Collaborate with the Sanger Centre to increase productivity through improved mechanization, increased automation, and the creation of new software; and decrease costs while maintaining high accuracy.
NCHGR will require grantees to release sequencing data quickly via the WWW. Since the end of 1992, all U.S. Human Genome Project investigators have been held to a rapid data-release standard based on a set of sharing guidelines developed by DOE and NIH. This philosophy was also much in evidence at the recent sequencing meeting sponsored by HUGO in Bermuda, where researchers from major sequencing centers around the world agreed on the importance of continuing the rapid-release policy (see "International Sequencing Meeting").
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