Towards automation of germline variant curation in clinical cancer genetics
Vignesh Ravichandran, Zarina Shameer, Yelena M. Kemel, Michael Francis Walsh, Karen Anne Cadoo, Steven M. Lipkin, Diana L. Mandelker, Liying Zhang, Zsofia Kinga Stadler, Mark E. Robson, Kenneth Offit, Joseph Vijai
PathoMAN automates germline variant curation using ACMG guidelines, achieving high concordance with expert curation and proposing refinements for better ClinVar reporting.
Genetics in Medicine · Feb 20, 2019Peer-reviewedGenetics