Hi all!
I am working on pipeline optimization for WES analysis. I am testing my pipelines on the GIAB sample from the woman from Utah. In order to estimate the quality of my pipelines, I want to compare vcf results to the validated ones. I thought to proceed this through building confusion matrices and calculation of precision and recall parameters and further comparing them to the gold standard.
So my question is, first, is it a good way to compare pipelines? If yes, is there a special command to calculate the parameters of interest or it's usually dome manually?
Maybe I missed some details so don't hesitate to correct me. Thanks!
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written
by
noff.polina •
1 answer
I have made good experiences with hap.py. It is also available in the bioconda repository, which I would strongly recommend for installing.
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