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Five-Year Research Goals of the U.S. Human Genome Project
October 1, 1998, to September 30, 2003
Human DNA Sequence
- Finish the complete human genome sequence by the end of 2003.
- Finish one-third of the human DNA sequence by the end of 2001.
- Achieve coverage of at least 90% of the genome in a working draft based
on mapped clones by the end of 2001.
- Make the sequence totally and freely accessible.
- Continue to increase the throughput and reduce the cost of current sequencing
- Support research on novel technologies that can lead to significant improvements
in sequencing technology.
- Develop effective methods for the advanced development and introduction
of new sequencing technologies into the sequencing process.
Human Genome Sequence Variation
- Develop technologies for rapid, large-scale identification and/or scoring
of single nucleotide polymorphisms and other DNA sequence variants.
- Identify common variants in the coding regions of the majority of identified
genes during this five-year period.
- Create a SNP map of at least 100,000 markers.
- Develop the intellectual foundations for studies of sequence variation.
- Create public resources of DNA samples and cell lines.
Functional Genomics Technology
- Generate sets of full-length cDNA clones and sequences that represent human
genes and model organisms.
- Support research on methods for studying functions of nonprotein-coding
- Develop technology for comprehensive analysis of gene expression.
- Improve methods for genome-wide mutagenesis.
- Develop technology for large-scale protein analyses.
- Complete the sequence of the roundworm C. elegans genome by 1998.
- Complete the sequence of the fruitfly Drosophila genome by 2002.
- Develop an integrated physical and genetic map for the mouse, generate
additional mouse cDNA resources, and complete the sequence of the mouse genome
- Identify other useful model organisms and support appropriate genomic studies.
Ethical, Legal, and Social Issues
- Examine issues surrounding the completion of the human DNA sequence and
the study of human genetic variation.
- Examine issues raised by the integration of genetic technologies and information
into health care and public health activities.
- Examine issues raised by the integration of knowledge about genomics and
gene-environment interactions in non-clinical settings.
- Explore how new genetic knowledge may interact with a variety of philosophical,
theological, and ethical perspectives.
- Explore how racial, ethnic, and socioeconomic factors affect the use, understanding,
and interpretation of genetic information; the use of genetic services; and
the development of policy.
Bioinformatics and Computational Biology
- Improve content and utility of databases.
- Develop better tools for data generation, capture, and annotation.
- Develop and improve tools and databases for comprehensive functional studies.
- Develop and improve tools for representing and analyzing sequence similarity
- Create mechanisms to support effective approaches for producing robust,
exportable software that can be widely shared.
Training and Manpower
- Nurture the training of scientists skilled in genomics research.
- Encourage the establishment of academic career paths for genomic scientists.
- Increase the number of scholars who are knowledgeable in both genomic and
genetic sciences and in ethics, law, or the social sciences.
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