Initial Goals

U.S. Human Genome Project (FY 1991-1995)


This synopsis of goals is based on the U. S. Department of Energy Human Genome 1991-92 Program Report, published 6/92.
Genetic Mapping
Complete a fully connected human genetic map with markers spaced an average of 2 to 5 centimorgans apart. Identify each marker by an STS.

Physical Mapping
Assemble STS maps of all human chromosomes with the goal of having markers spaced at approximately 100,000 base-pair intervals.

Generate overlapping sets of cloned DNA or closely spaced unambiguously ordered markers with continuity over lengths of 2 million base pairs for large parts of human genome.

DNA Sequencing
Improve current methods and/or develop new methods for DNA sequencing that will allow large scale sequencing of DNA at a cost of 50 cents per base pair.

Determine the sequence of an aggregate of 10 million base pairs of human DNA in large, continuous stretches in the course of technology development and validation.

Model Organisms
Prepare a genetic map of the mouse genome based on DNA markers. Start physical mapping on one or two chromosomes.

Sequence an aggregate of about 20 million base pairs of DNA from a variety of model organisms, focusing on stretches that are 1 million base pairs long, in the course of the development and validation of new and/or improved DNA-sequencing technology.

Informatics
Develop effective software and database designs to support large-scale mapping and sequencing projects.

Create database tools that provide easy access to up-to-date physical mapping, genetic mapping, chromosome mapping, and sequencing information and allow ready comparison of the data in several data sets.

Develop algorithms and analytical tools to interpret genomic information.

Ethical, Legal and Social Implications
Develop programs addressed at understanding the ethical, legal, and social implications of the human genome project.

Identify and define the major issues and develop initial policy options to address them.

Research Training
Support research training of pre- and post-doctoral fellows starting in FY 1990. Increase the number of trainees supported until a steady state of about 600 per year is reached by the fifth year.

Examine the need for other types of research training in the next year.

Technology Development
Support innovative and high-risk technological developments as well as improvements in current technology to meet the needs of the genome project as a whole.

TechnologyTransfer
Enhance the already close working relationships with industry.

Encourage and facilitate the transfer of technologies and of medically important information to the medical community.


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