Hello,
I am running the GATK-SV pipeline in single-sample PCR-free mode using Illumina paired-end 2x150bp reads. I benchmarked the results against the GIAB HG002 Tier 1 v1.1 truth set using truvari.
Observed Results:
- PASS variants: 5.792
- Precision: 95.80%
- Recall: 25.50%
- All variants (unfiltered): 8.389
- Precision: 72.60%
- Recall: 27.40%
While my precision (~96%) aligns with the reference paper, observed recall remains low (~25%). Is this recall range expected for single-sample Illumina inputs?
Thank you.