GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss
Damianos P. Melidis, Christian Landgraf, Gunnar Schmidt, Anja Schöner-Heinisch, Sandra v. Hardenberg, Anke Lesinski‐Schiedat, Wolfgang Nejdl, Bernd Auber
GenOtoScope automates ACMG/AMP variant classification for congenital hearing loss, achieving higher accuracy and precision than existing tools.
PLoS Computational Biology · Sep 21, 2022Peer-reviewedBioinformatics