JASON Evaluation Report of the Human Genome Project

Study Leader:

JSR-97-315

October 7, 1997

The MITRE Corporation
JASON Program Office
1820 Dolley Madison Blvd
McLean, Virginia 22102
(703) 883-6997

Also available: Comments on: JASON Report JSR 97-315, “Human Genome Project” (version circulated Dec. 1997) [http://bozeman.genome.washington.edu/ ScienceLetter/JasonComments.html]

1. BACKGROUND, CHARGE, AND RECOMMENDATIONS

• 1.1 Overview of the Human Genome Project
• 1.2 Challenges for the Project
  • 1.2.1 The complexity of genomic data
  • 1.2.2 The state of technology
  • 1.2.3 The pace of sequencing
  • 1.2.4 The cost of sequencing
  • 1.2.5 Project coordination
• 1.3 Study charge
• 1.4 Recommendations
  • 1.4.1 General recommendations
  • 1.4.2 Technology recommendations
  • 1.4.3 Quality recommendations
  • 1.4.4 Informatics recommendations

2. TECHNOLOGY

• 2.1 Improvements of present genomics technology
  • 2.1.1 Electrophoresis improvements and an ABI users group
  • 2.1.2 Algorithms
• 2.2 DOE’s mission for advanced sequencing technology
  • 2.2.1 Institutional barriers to advanced technology development
  • 2.2.2 Purposes of advanced sequencing technology
• 2.3 Specific advanced technologies
  • 2.3.1 Single-molecule sequencing
  • 2.3.2 Mass-spectrometric sequencing
  • 2.3.3 Hybridization arrays

3. QUALITY

• 3.1 Quality requirements
  • 3.1.1 The diversity of quality requirements
  • 3.1.2 Accuracy required for assembly
• 3.2 Verification protocols
  • 3.2.1 Restriction enzyme verification of sequence accuracy
  • 3.2.2 Hybridization arrays for sequence verification
  • 3.2.3 Implementation of verification protocols
• 3.3 Assessing and improving present techniques
  • 3.3.1 A systems approach is required
  • 3.3.2 Gold standards for measuring sequence accuracy
  • 3.3.3 Quality issues pertaining to sequencing templates

4. GENOME INFORMATICS

• 4.1 Introduction
• 4.2 Databases
  • 4.2.1 User issues
  • 4.2.2 Modularity and standards
  • 4.2.3 Scaling and storage
  • 4.2.4 Archiving raw data
  • 4.2.5 Measures of success
• 4.3 Sociological issues

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