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.