varfish-org / varfish-server-worker

Rust-based background worker for varfish-server
MIT License
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Annotate ACMG and disease genes for svs #31

Closed holtgrewe closed 1 year ago

holtgrewe commented 1 year ago

The annotation of disease genes is useful. We should annotate genes that are in the ACMG list or that have a disease link via HPO or that have a likely pathogenic/pathogenic annotation in clinvar as such in the output of sv query. Further, we should add a field affects_disease_gene in the top level payload.

holtgrewe commented 1 year ago

We can derive this information from HPO and MedGen