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Damianos P. Melidis edited this page Nov 25, 2021
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GenOtoScope is a bioinformatics tool to classify the pathogenicity of variants associated with hearing loss, following the ACMG/AMP guidelines.
This wiki contains:
- installation guide --> installation section
- how to run command line interface (CLI) --> CLI section
- how to use the web interface --> web section
- how to recreate/update the annotation files --> annotation section
- show-case of input and output files for example variants & explanation of output classification file --> toy dataset
Follow along and enjoy using GenOtoScope :)