Copy ratio threshold for calling actual CNV
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twtoal ▴ 10
@twtoal-15473
Last seen 4 months ago
United States

What would you recommend regarding how to choose two thresholds (LO, HI) for adjusted copy ratio (CR), such that CR < LO is called a deletion and CR > HI is called a duplication?

 

PureCN copy-ratio threshold • 1.2k views
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@markusriester-9875
Last seen 2.4 years ago
United States

We use the callAlterations output, with homozygous deletions called as deletion and amplifications called as copy number >= 6 when focal and ploidy < 4 and >=7 otherwise. But these cutoffs are always hand wavy. For some genes, smaller copy number gains can be quite significant (I cannot find the relevant paper, but it was I think a TCGA pancancer analysis). It makes always sense to plot the genes of interest. Sorry that there is no better answer.

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