Five-Year Research Goals of the U.S. Human Genome Project

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Note: For more on the Five Year Research Goals, see the website.

Human DNA Sequence

Achieve coverage of at least 90% of the genome in a working draft based on mapped clones by the end of 2001.
Finish one-third of the human DNA sequence by the end of 2001.
Finish the complete human genome sequence by the end of 2003.
Make the sequence totally and freely accessible.

Sequencing Technology

Continue to increase the throughput and reduce the cost of current sequencing technology.
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 sequences.
Develop technology for comprehensive analysis of gene expression.
Improve methods for genome-wide mutagenesis.
Develop technology for large-scale protein analyses.

Comparative Genomics

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 by 2008.
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 and variation.
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.