In this webinar, participants learned about the whats, hows, and whys of this partnership between the Broad and Illumina, with representative experts from each institution.

This webinar was originally hosted by the Broad Institute on December 2, 2021, and was open to the GATK community. It was hosted by Derek Caetano-Anollés from the Broad Institute of MIT and Harvard.

Materials

Follow along with our Terra workspace: https://app.terra.bio/#workspaces/warp-pipelines/DRAGEN-GATK-Whole-Genome-Germline-Pipeline

Visit the Webinar Discussion Topic for this webinar: https://gatk.broadinstitute.org/hc/en-us/community/topics/4410068170779

Presenters

Presentations - Derek Caetano-Anollés, Science Writer, Data Sciences Platform¹ - Heidi Norton (DRAGEN Project Manager, Illumina) - Michael Gatzen (Computational Associate, Broad Institute)

Expert panelists - Geraldine Van der Auwera (Director, Outreach and Communications, Broad Institute) - James Emery (Senior Software Engineer, Broad Institute) - Deepthi Shankar (Marketing Manager, Illumina)

Webinar Coordination - Tiffany Miller (Assoc. Director, Customer Success, Broad Institute) - Genevieve Brandt (Product Support Specialist, Broad Institute) - Ricky Magner (Computational Scientist, Broad Institute)

For more information on GATK, visit https://gatk.broadinstitute.org For more information on DRAGEN-GATK, visit https://gatk.broadinstitute.org/hc/en-us/articles/360045944831

Video Recording

The webinar recording can be found on the Terra YouTube channel and on the DRAGEN-GATK homepage. Time stamps below may reference specific workshop materials where relevant.

00:00:00 Welcome to the webinar! 00:02:57 What's the context 00:08:45 Bringing DRAGEN to GATK 00:14:09 Evaluating functional equivalence 00:21:33 Terra pipeline walkthrough

00:32:54 Developer Q&A 00:33:18 (Q&A) How was DRAGEN-GATK benchmarked? 00:35:00 (Q&A) How do I do joint-genotyping with DRAGEN-GATK? 00:37:30 (Q&A) Is DRAGEN-GATK more $$$ than DRAGEN? 00:39:38 (Q&A) Are there plans to create a GPU-accelerated DRAGMAP? 00:40:18 (Q&A) Have there been validation done on WES data? 00:42:42 (Q&A) Does DRAGEN-GATK work for low-coverage data? 00:43:54 (Q&A) Does DRAGEN-GATK provide forced-genotyping settings? 00:44:54 (Q&A) Are there plans to expand DRAGEN-GATK to large variants? 00:46:20 (Q&A) Will the DRAGMAP documentation be expanded? 00:48:15 (Q&A) Plans to expand DRAGEN-GATK to somatic variants? 00:49:06 (Q&A) Are results available to view outside Terra? 00:51:10 (Q&A) What can we expect in the future for DRAGEN-GATK? 00:53:03 (Q&A) Any comment on panel-seq in DRAGEN-GATK? 00:54:20 Closing thoughts

Further Resources

For more information on GATK, visit https://gatk.broadinstitute.org For more information on Terra, visit https://terra.bio