populationgenomics / talos

Rare Disease variant reanalysis tool
MIT License
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Use SVAnnotate'd VCFs directly for SV data? #449

Open MattWellie opened 1 week ago

MattWellie commented 1 week ago

We're going to pretty great lengths in AnnotateCohort and AnnotateDataset to prepare SV data for Seqr. That's not relevant to Talos, and we can pull the joint-called VCFs instead

This would be an infinitely more versatile starting point for other users, SVAnnotate is a GATK-suite tool.

We could still ingest as a MT, or we could annotate directly with any of the VCF anno/parsing tools. Paging @brentp 👀