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.
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 fieldaffects_disease_gene
in the top level payload.