Forum:tutorial for carrier screening analyses?

Question

[Akos]

Dear Community members,

I was wondering if there is a comprehensive, step by step tutorial for Genetic carrier screening for beginners. I was given some VCF files to "look into" and to screen for disease genes that might results in any inherited pathologies. Unfortunately, (probably I missed) I cannot find any great tutorial for such analysis in R (or similar), only commercial tools.

I found OpenCravat, that has some built in tools that might give some hints ( i.e. Clinvar, Clinpred). I would like to ask the following questions:

• Could someone provide a website / resources that has such tutorial or some info where I could start learning about these analyses?
• Is OpenCravat suitable for such analysis?

Many thanks in advance.

Regards,

p.s. (I am aware that it is quite difficult and complex data analysis and the data interpretation requires clinical expertise)