CNV in Normal Samples?
1
0
Entering edit mode
twtoal ▴ 10
@twtoal-15473
Last seen 4 months ago
United States

Can PureCN be used to call CNVs in normal germline samples, using the pool of normals database to provide a standard normal reference?

 

PureCN Germline Normal CNV • 1.3k views
ADD COMMENT
0
Entering edit mode
@markusriester-9875
Last seen 2.4 years ago
United States

I would use specialized tools for germline. We use a very similar coverage normalization as GATK4 and this comes with a germline workflow. But there are many others. 

If you really want to use PureCN, make sure that the normal is not in the pool and do not provide a target weights file (for somatic calling, we try to ignore exons that have a high variance in the PoN). You can try the recommended settings for cell lines (Quick vignette).

ADD COMMENT
0
Entering edit mode

Ok.  It would be very nice to be able to use PureCN for the germline too, for consistency's sake if nothing else.  Leaving the normal out of the pool would require making a separate pool file for each normal.  It would be nice if there were a way to tell PureCN to ignore a particular sample in the pool (or is the pool already a blend of all its input samples?).

 

ADD REPLY

Login before adding your answer.

Traffic: 764 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6