Entering edit mode
9 days ago
njornet
▴
20
Hello,
I need to integrate in my variant detection step of my pipeline the genotyping and characterization of diseases. Is there any databases which include the mode of inheritance which I can download so I can automate it? I know there won't be for all diseases but I tried different databases for a cystic fibrosis sample I have and I couldn't find anything useful. I only found the MONDO database but I'm very lost on how it works.
Thank you.