Revised Goals

U.S. Human Genome Project (FY 1994-1998)

Genetic Mapping

Complete the 2- to 5-cM map by 1995. (Goals for map resolution remain unchanged.)

Develop technology for rapid genotyping.

Develop markers that are easier to use.

Develop new mapping technologies.

Physical Mapping

Complete a sequence tagged site (STS) map of the human genome at a resolution of 100 kb. (Goals for map resolution remain unchanged.)

DNA Sequencing

Develop efficient approaches to sequencing one- to several megabase regions of DNA of high biological interest.

Develop technology for high-throughput sequencing, focusing on systems integration of all steps from template preparation to data analysis.

Build up a sequencing capacity to allow sequencing at a collective rate of 50 Mb per year by the end of the period. This rate should result in an aggregate of 80 Mb of DNA sequence completed by the end of FY 1998.

Gene Identification

Develop efficient methods for identifying genes and for placement of known genes on physical maps or sequenced DNA.

Technology Development

Substantially expand support of innovative technological developments as well as improvements in current technology for DNA sequencing and for meeting the needs of the Human Genome Project as a whole.

Model Organisms

Finish an STS map of the mouse genome at a 300-kb resolution.

Finish the sequence of the Escherichia coli and Saccharomyces cerevisiae genomes by 1998 or earlier.

Continue sequencing Caenorhabditis elegans and Drosophila melanogaster genomes with the aim of bringing C. elegans to near completion by 1998.

Sequence selected segments of mouse DNA side by side with corresponding human DNA in areas of high biological interest.

Informatics

Continue to create, develop, and operate databases and database tools for easy access to data, including effective tools and standards for data exchange and links among databases.

Consolidate, distribute, and continue to develop effective software for large-scale genome projects.

Continue to develop tools for comparing and interpreting genome information.

Ethical, Legal, and Social Implications (ELSI)

Continue to identify and define issues and develop policy options to address them.

Develop and disseminate policy options regarding genetic testing services with potential widespread use.

Foster greater acceptance of human genetic variation.

Enhance and expand public and professional education that is sensitive to sociocultural and psychological issues.

Training

Continue to encourage training of scientists in interdisciplinary sciences related to genome research.

Technology Transfer

Encourage and enhance technology transfer both into and out of centers of genome research.

Outreach

Cooperate with those who would establish distribution centers for genome materials.

Share all information and materials within 6 months of their development. This should be accomplished by submission of information to public databases or repositories, or both, where appropriate.

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Wednesday, October 01, 2003

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