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Running CLI
Damianos P. Melidis edited this page Nov 21, 2021
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CLI contains two commands:
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genotoscope_annotate.pythat annotates an input VCF or a set of VCF files and converts them to .GSvar files --> genotoscope_annotate -
genotoscope_classify.pythat classifies an input GSvar or a set of GSvar files based on ACMG/AMP guidelines for congenital hearing loss --> genotoscope_classify
GSvar format: This format is developed and used by the clinical bioinformatics suite megSAP. It is a tabular format containing similar information to a VCF file. For more details, please see this page.