ACMG Plugin

[zuber-bioinfo]

Dear open-cravat team,

Please add, GeneBe plugin (ACMG score and classification) in open-cravat. VEP and MobiDetails added this plugin in their pipeline/analysis.

I think, only this is missing in open-cravat. If this is done, then nothing like this.

Thanks, Zuber

[RachelKarchin]

Thanks for the suggestion! We will investigate.

[kmoad]

From what we understand GeneBe doesn't have a bulk download of annotations, but offers an API. Generally, API based annotators don't have acceptable runtime in oc because we annotate variants sequentially. We are working on better API support to help us work with ClinGen Linked Data Hub by submitting variants in batches. This would be another good use-case for that feature. We'll update here when it's in the feature queue.