hap.py icon indicating copy to clipboard operation
hap.py copied to clipboard

VAF considered by HAPPY sensitivity and specificity

Open Belle-AM opened this issue 7 months ago • 0 comments

We are using hap.py to compare various sequencing runs processed via the DRAGEN pipeline. In the DRAGEN output vcf, any variant with a VAF of at least 0.01 is reported. However, any variant with less than a VAF of 0.05 is marked as lowvaf in its filter column.

When hap.py reportsthe "PASS" results for concordance, I assume that the comparison excludes variants with the lowvaf filter, and thus sensitivity and specificity are based on only those variants with at least 0.05 VAF. Can this be confirmed?

Belle-AM avatar Mar 05 '25 21:03 Belle-AM