Hello I have a question to analyze the CNV from exome-data using NGS..
I have family (father, mother, affected patient, non-affected sibling)
I would like to find CNV which is associated with specific disease.
I have used CNVnator and got the list of CNVs.
My qustions is how can I filter the CNV which are not associated with specific disease?
This disease is known to be inherited recessive way.. which means that specific CNV we found from patient can also be detected from sibling or father or mother too. In the same way. (even though the ration would be different..?? right?) In other words, since this disease is recessively inherited, patient might have homozygous deletion/duplication on the other hands, other family member might not have such CNV or heterozygous deletion/duplicationn....... So, in the latter case, disease associated CNV could be detected from all family member.. So, we could not find real CNV associated with a specific disease... How can we handle this problem?
One more!! Can we classify the CNV as homozygous or heterozygous ?????
Could you please somebody help with this?