CNV Prediction Tools

Question

[adarsh_pp]

Hello,

I am working a medical genetics team, where I get patient exome data to call variants.

We are currently using cn.MOPS as the default CNV caller. Apart from this, if required we are also using Exome Depth and XHMM.

But now we are trying to improve the CNV calling with more updated tools with decent precision and recall.

Can anyone please suggest any new tools that could be applied for this domain?

Thank you

[Quentin M]

Give a try to CODEX2

Answer 1

[Lian]

CNVkit、CONTRA

[Lian]

Control-freec