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.
Author: Aaron Hall
Author Bio:
This article can be searched using: NCHGR Initiates Sequencing Pilot Projects, Education & Reference, Science Programs
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