No GIAB call today - next call Aug 5

[Zook, Justin M. (Fed)]

Dear GIAB Analysis Team,

 

We won’t have a GIAB call today, so our next call will be Aug 5 at 1pm EDT, focused on our cancer GIAB analyses. A couple updates:

1. If you missed any of our recent calls, we have links to recordings of them at https://docs.google.com/document/d/18iedHRpmMbdKksiMFfwf3n5O3CpPECzU1VESzmcnXEk/edit?usp=sharing. We are working on a draft of a data paper for the HG008 tumor/normal pair, and we are also working collaboratively on initial variant callsets and comparisons to form a foundation for future somatic benchmarks. You can find the latest data for HG008, including bam files for most datasets, in the data manifest at https://www.nist.gov/programs-projects/cancer-genome-bottle.
2. We are planning to release new draft small variant and SV benchmarks for HG002 based on the T2T-HG002-Q100v1.1 assembly (https://github.com/marbl/HG002) aligned to GRCh37, GRCh38, and T2T-CHM13v2.0, hopefully within the next week. We think this may be the version we officially evaluate, so we will be reaching out in the future for volunteers to help with the evaluation. We also highly value any ad hoc feedback as we release these draft benchmarks.

 

Thanks for all your contributions!

Justin, on behalf of the GIAB team