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Somatic CNV calling in case of pre-existing CNVs #897

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HenriettaHolze opened this issue Jul 15, 2024 · 0 comments
Open

Somatic CNV calling in case of pre-existing CNVs #897

HenriettaHolze opened this issue Jul 15, 2024 · 0 comments

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@HenriettaHolze
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Hi, could you explain how reliable CNVkit is for somatic CNV calling in case of "germline" CNVs?
We sequenced a cancer cell line before and after engraftment into mice. I ran CNVkit with the nf-core/sarek pipeline.
When looking at the results for the baseline sample, CNVkit shows a locus with 5 copies at baseline (~2.4M bp).
We are interested in additional CNVs that happened/were selected for during engraftment, i.e. further amplification or loss.
The results of CNVkit and the PURPLE tool (run as part of nf-core/oncoanalyser pipeline) are quite different: CNVkit estimates a somatic CN change of 1.38 (cn=3, log2=0.456329) at the locus. The CN estimated by purple is 2.03.

Below a scatter plot of chr12 for the baseline sample
image

And for the tumor sample using the baseline as reference
image

Thanks!

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