GIAB Roadmap Discussion on Nov 9 from 3-5pm ET

Zook, Justin M. (Fed)

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Oct 28, 2020, 9:50:56 AM10/28/20

to GIAB Analysis Team, genome-in...@googlegroups.com

Dear GIAB,

We would like to hold a special discussion to get feedback about a roadmap for Genome in a Bottle Consortium work developing benchmarks for germline samples on November 9 from 3-5pm ET. We plan to send a draft plan before the call, and will welcome feedback both by email and in discussion on the call. We will likely hold a separate discussion about somatic samples in the future. Please let us know if this time does not work for you, and we look forward to hearing your thoughts!

Cheers,

Justin and Marc

Zook, Justin M. (Fed)

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Nov 5, 2020, 9:59:00 AM11/5/20

to GIAB Analysis Team, genome-in...@googlegroups.com, Marc L Salit

Dear Genome in a Bottle Community,

We are looking forward to having an open discussion with many of you about our technical roadmap for GIAB germline benchmarks on November 9 from 3-5pm ET. I’ve attached a preliminary set of slides with an update and a draft roadmap for discussion on the call, and we welcome feedback before, during, and after the call. The main topics of discussion in the slides are:
1. Progress developing new benchmarks for challenging variants

2. Collaborations with the Human Pangenome Reference Consortium and Telomere to Telomere Consortium to develop future assembly-based benchmarks

3. Roadmap for new GIAB benchmarks

A few questions for discussion are on the last slide:

Are we missing anything that might be a higher priority?
Should new benchmarking tools be a higher priority?
Relative priority of better characterizing HG002 vs applying methods to all 7 genomes?
Relative priority of expanding to new ancestries?
What would make the data easier to use? What challenges have you had in using the data?
Is it a priority to study batch-to-batch variability?

Thank you!

Justin and Marc

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GIAB Roadmap 201019.pdf