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. |
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. |