GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss
Fig 4
Command line examples for the two commands of GenOtoScope.
(A) Annotate all variants presented in VCF files, in input folder, using megSAP application and save results in GSvar files. (B) Classify all variants presented in GSvar files based on ACMG guidelines specified for HL.