Human Genome Reference Program Planning Meeting

Samples and sequencing

The current program has a goal of ~350 high-quality genomes from diverse populations by late 2024. What should be the goals of a renewed program? Why?

• What does a "finished" human pangenome look like (i.e., when are we "done”)?
• Do we need more "pangenome quality" assemblies to achieve this?
• How do we prioritize sample selection from different perspectives (population genetics, clinical utility,
  diversity and inclusion, others)?
  • At what cost and quality?
• What consent and population naming standards should be used and how to encourage/integrate them?

Representation and implementation of a pangenome resource

• Are the current graph and other data structure representations able to usefully represent the number of genome assemblies in the pangenome, now or in the near-to-mid future?
• How much R&D on graph or other representations is still needed? Or should we concentrate on implementation of available representations?
• In the next phase of the program, what should be the relative emphasis on R&D for pangenome representations vs aggressive roll-out of the pangenome reference to the community?
• What is the best way to integrate this element into a larger program — how closely does this activity need to be linked to the other components of HGRP as well as other NIH programs?

Dissemination: versioning, user outreach/education, and user tools

• What will the user community need/want for the next phase of the program?
• What tools are needed? How best to encourage their generation and use?
• How do we minimize version churn or achieve backward compatibility?
• More generally, what other methods or resources are needed to gain acceptance?
• In two years, what emphasis will this component need?
   

Engaging worldwide partners

• Who are key long-term partners both for the implementation of the pangenome reference as the standard across studies and data types as well as achieving an international resource representing humanity?
  • What is needed to attain this, and what should NHGRI's specific role be?
• How can NHGRI best help establish this international reference with relatively few resources?
• Are there particular barriers that NHGRI needs to anticipate (political, cultural, ethical)?
• Are there things NHGRI should not do, even if it could?
   

Discussion

• Should NHGRI have a coordinated program focused on the human genome reference in ~2024 - 2029?
• If so, what high-level goals should it have?
• What major program elements? How should they be related? integrated? How prioritized?
• How to balance clinical, pop gen, functional genomics, and other user community needs?
• How to creatively incorporate diversity, equity, and inclusion, in all aspects (participants, investigators, users/communities)
• Key opportunities, or gaps? What are the main challenges/barriers to anticipate?
• What strategies can we use to optimize/be efficient?
• What would success look like? How to measure?