The DRAGEN Structural Variant (SV) caller identifies large insertions, deletions and genomic arrangements from mapped DNA reads. For details, refer to the DRAGEN user guide for structural variant calling.
SV WGS historical comparison table (click to expand)
Method
Recall
Precision
F1-score
DRAGEN 4.5.4
0.880
0.969
0.922
DRAGEN 4.4
0.807
0.963
0.878
DRAGEN 4.3
0.511
0.953
0.665
Comparison with previous DRAGEN versions
SV WGS accuracy comparison across DRAGEN versions
Mobile Element Insertions
The general purpose SV routine can detect Mobile Element Insertions (MEIs) with assembled inserted sequences like other regular insertions. If missed by the general purpose SV routine, MEIs will be rescued by the MEI specific routine based on similarity between assembled contigs and known sequences in the MEI catalog.
Recall for HG002 NIST v0.6 MEI (Wittyer v0.5.4.1):
SV MEI historical comparison table (click to expand)
