validation approach for CNVs
Hello,
I'm building a pipeline to call CNV using WGS data. I need to validate my CNV (sensitivity, specifity, etc). I have the genome from GIAB for a first validation. My question is do you know other approaches to validate my CNVs ?
Thanks
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heureuse •
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how is it different from your previous question ? Mendelian precison
Mendelian Precision is an approach i wanted to use but i'm no longer using it.
If you are working with short-read sequencing data, a good solution would be to compare those calls with those from the same sample sequenced with long reads.