BioinformaticsPLoS Computational BiologyPeer-reviewed
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss
Damianos P. Melidis, Christian Landgraf, Gunnar Schmidt…·Bernd Auber
GenOtoScope automates ACMG/AMP variant classification for congenital hearing loss, achieving higher accuracy and precision than existing tools.
9 citations