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calling the CNV in tumor-only samples (WGS and WES)

Dear all,

please, which algorithm(s) would you recommend for calling the CNV in tumor-only samples (obtained by either WES or WGS technology ?

I would gladly use GATK4, although hmmm ... we do not have so many samples in order to generate a PoN (a panel of normals).

many thanks,

bogdan

cnv
• 4,390 views • link
written by Bogdan Bogdan

2 answers

CNVkit can do CNV calling from tumor-only samples, either in isolation or using a small pool of unrelated normal samples that were sequenced with the same protocol.

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written by Eric T. Eric T.

Dear Eric, great to hear from you ;) if it is OK by you, will get back to you by email, as we have a few questions about CNVkit ;).

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written by Bogdan Bogdan

Sure, happy to help. Also try CNVkit's issue tracker if you think there's a bug other people might be experiencing.

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written by Eric T. Eric T.

Thanks, Eric. will write to you as soon as i have a free minute; essentially CNVkit did run on our samples, although i would have to talk with you about the output. Thanks again !

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written by Bogdan Bogdan

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