Hi, I've been asked to semi automate (as far as full automation of the process seems to be impossible) the ACMG annotations of WGS data for our clinicians.
What are the options here? I've checked several:
varsome (paid full access, closed code)
InterVar (seems nice, but works only with annovar, and I need to annotate ACMG terms on VEP output).
TAPES ( (recent paper, supposedly support VEP), but github page is dead and no response to the issues, crashes on exapmle files, so not an option.
Charger (investigating it right now - but the documentation is sparse :( ).
Am I missing something else here? Did anyone, by chance, had a luck to fit the VEP output to InterVar?