Question: Tools For Analyzing Copy Number Variation On All-Tumor Exome-Seq Samples
gravatar for newDNASeqer
5.3 years ago by
United States
newDNASeqer650 wrote:

My exome-seq data all derived from sequencing tumor samples. I am wondering what's the best tool for detecting CNVs in these samples. From my understanding, most CNV tools rely on the changes in depth of coverage to call CNVs. Is there any tool you recommend?

I've also taken a look at VarScan, is it only applicable to normal/tumor sample pair?

exome cnv • 3.4k views
ADD COMMENTlink modified 5.3 years ago by Ryan D3.3k • written 5.3 years ago by newDNASeqer650
gravatar for brentp
5.3 years ago by
Salt Lake City, UT
brentp23k wrote:

You can use cn.mops: to get copy-number estimates in your samples.

It obviously won't tell you if they are different from normal, but maybe you can overlap with existing, known CNVs.

You could also look for regions with a consistently high copy-number across your samples and see if / how they are related to the cancer you're studying.

ADD COMMENTlink written 5.3 years ago by brentp23k
gravatar for Ryan D
5.3 years ago by
Ryan D3.3k
Ryan D3.3k wrote:

A group here has had a great deal of success in using Varscan2 and ExomCNV due to the non-uniform nature of exon coverage across the genome. See the paper , though XHMM has worked fairly well for us if you have a number of samples run under the same sequencing parameters. I might recommend the former.

ADD COMMENTlink written 5.3 years ago by Ryan D3.3k
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