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Human Genome Reference Web Meeting

Event Details

On March 1, 2018, over 65 basic research, clinical, and bioinformatic scientists in the genomics community convened for a four-hour web meeting on NHGRI-funded components of the Genome Reference Consortium (GRC). The GRC is an essential resource for the biomedical community and due to recent technological advances, NHGRI staff determined it was time to evaluate current GRC activities and discuss its possible future scope.

The web meeting addressed these topics:

  • key research and resource opportunities for improving the human reference
  • activities necessary to keep the reference relevant and useful
  • clinical and research community needs (including education)
  • related resources
  • collaborations


Executive Summary


1:00 pm

Opening Remarks, Goals & Related NIH Activities

Adam Felsenfeld

1:05 pm

Current Genome Reference Consortium Activities

Valerie Schneider

1:15 pm

Perspectives on the Human Genome Reference

  • Basic research perspective
  • Clinical research perspective


Evan Eichler
Eric Venner

1:30 pm

Discussion & Introduction to Questions for Each Topic

Adam Felsenfeld
Kris Wetterstrand

1:45 pm

Maintaining & Improving the Reference

  • What activities are needed to maintain the reference over time at its current level of utility?
  • What’s needed to support its use as a reference coordinate system?
  • What are key research and resource opportunities for improving the utility of the human reference genome?
  • What should be the rationale and priorities for adding diverse populations?
  • What new technology development is necessary to keep the human reference genome relevant?
  • What informatics tools are available and/or should be developed to facilitate use of the human genome reference?
  • Are there better ways to represent incremental builds? Are there other ways to use Alt Paths?

Rick Wilson

Charles Lee
Nicole Soranzo

2:35 pm

Improving Tools & Representations

  • What is the horizon for the move to alternative representations, e.g. graph-based genome reference, distributed genome reference?
  • What are barriers to getting alternative representations adopted?
  • What is needed in terms of tool development, algorithms and software?

Deanna Church

Adam Phillippy
Gabor Marth

3:15 pm




3:30 pm

Community Needs & Education

  • What are additional activities for improving the resource and making it useful to different research communities, considering both the short and long term?
  • What are the community needs for education and training around use of the human genome reference?
  • What are the roadblocks to uptake by basic and clinical research communities?

Carol Bult

Matt Lebo
Sean Davis

3:50 pm

Coordination with Other Resources & Similar Efforts

  • What are others doing and/or supporting in this area?
  • What related resources should be integrated with the human genome reference?
  • How can different efforts best be coordinated?

Benedict Paten

Justin Zook
Richard Durbin

4:10 PM

Future Scope & Priorities

  • What are options for the scope and size of coordinated activities for maintaining and improving the human genome reference?
  • What are the priorities for achieving the right balance between potential components?
  • What is the most effective path forward at different levels of support and over different timeframes?

Jonathan Haines
Heidi Rehm

Discussants: All

4:30 pm

Wrap-up Discussion

Adam Felsenfeld
Kris Wetterstrand

5:00 pm


Last updated: March 1, 2018