GeneticsGenetics in MedicinePeer-reviewed
Towards automation of germline variant curation in clinical cancer genetics
Vignesh Ravichandran, Zarina Shameer, Yelena M. Kemel…·Joseph Vijai
PathoMAN automates germline variant curation using ACMG guidelines, achieving high concordance with expert curation and proposing refinements for better ClinVar reporting.
48 citations