October 1, 1998 to September 30, 2003

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.