CNV detection for NIPT analysis

Question

[martyferr90]

Hi all! I have a question: do you use any package or software for CNV analysis in cfDNA (and in particular with fetal DNA)? In alternative way: do you use any tool for this kind of analysis (or similar)?

The problem is that the fetal DNA in cfDNA from mother's blood is fragmented and I don't know if I can use the typical tool for CNV detection. I have to detect some specific deletion.

Can you help me?

I'm trying to use RAPIDR-Plus and FSDA with no success, do you use this software?

Thank you!

[David_emir]

Hi, Can you please share RAPIDR-PLUS software? I am not sure how to get this ? i can only find RAPIDR. Thanks

Answer 1

[Kritika]

https://github.com/VUmcCGP/wisecondor