deletion of OTOA or STRC

Genome-Bioinformatics-RadboudUMC / Chameleolyser

Tool to analyse the sequence of homologous coding regions in the genome using WES data

5 stars 1 forks source link

deletion of OTOA or STRC #4

Open hongenxu opened 10 months ago

hongenxu commented 10 months ago

sorry to bother you again. I am doing exome analysis of hearing loss patients. So I am interested in identifying deletions of OTOA and STRC genes. Is Chameleolyser able to identify deletions from SNV list or is there any script available to do so?

Best, Hongen

WouterSteyaert commented 10 months ago

The current public version of Chameleolyser does not support deletions and ectopic gene conversions. The reason is that you need to have a substantial number of samples in order to be accurate and the tool is currently build as a sample per sample analysis. If you do have a large number of samples I can assist you with the analysis if you want!