populationgenomics / talos

Rare Disease variant reanalysis tool
MIT License
6 stars 4 forks source link

Take Pathogenic SV input from PanelApp #380

Open MattWellie opened 6 months ago

MattWellie commented 6 months ago

e.g. https://panelapp.agha.umccr.org/panels/3443/

It'd be good to pull out these panels, parse ISCA IDs/SV type, and go looking for matching variants in our SV data. This could be treated as a variant whitelist category.

Side note.... does Clinvar have SVs in a format that's easy to pull down and annotate against our variant data