Human Genome Project
U.S. Department of Energy

Third 5-Year Research Goals of the U.S. Human Genome Project (FY 1998-2003)

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 DNA sequence by the end of 2003.

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 of sequencing technologies and the introduction of new approaches

Human Genome Sequence Variation

  • Develop technologies for rapid, large-scale identification and scoring of single-nucleotide polymorphisms (SNPs) and other DNA sequence variants.
  • Identify common variants in the coding regions of the majority of identified genes.
  • 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 Caenorhabditis elegans genome by 1998.
  • Complete the sequence of the fruit fly 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 organ- isms 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 healthcare and public-health activities.
  • Examine issues raised by the integration of knowledge about genomics and gene-environment interactions in nonclinical 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 usefulness 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 shared widely.

Training and Manpower

  • Nurture the training of scientists skilled in genomic research.
  • Encourage the establishment of academic career paths for genomic scientists.
  • Increase the number of scholars who are knowledgeable both in genomic and genetic sciences and in ethics, law, or the social sciences.