Given a tumor-only sample, I am looking to perform...
# sarek
s
Given a tumor-only sample, I am looking to perform copy number analysis and generate plots and tables. Could you please recommend tools that would best meet these requirements? Thank you!
t
Do you have WES or WGS? If you have WES, this may be difficult without any panel of normals. If you have a bunch of tumor samples and they have their CNAs all in different places, you could maybe try to use the collective as a kind of "PON", in the hope that the average is close to "normal". For WES, the commonly used tool is CNVkit. Don't know about tumor-only, but it works alright with decent-quality tumor-normal data. For visualization you can use cnaplotr. For WGS, i think ASCAT should be helpful, but I don't have much experience with that. If you have a suspicion of where a CNA is occurring, you can even look at it in IGV and might be able to see it.
s
Thank you, Thomas. I have 5 tumor-only WES samples and have been trying using mutect2 and CNVkit for variant calling and copy number analysis.
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m
Hi Sean, let me know how is your process going. I'm working with WES/WGS tumor only analysis, and now I'm curious about how sarek works with cnvkit in CNA WES tumor only analysis.