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[Preprint]. 2024 Oct 25:2024.10.22.619642. [Version 1] doi: 10.1101/2024.10.22.619642

Table 1: Multi-Sample SV Genotyping Performance.

Average performance of genotypers across 47 samples when given a multi-sample VCF of assembly-derived SVs and 32x long-read coverage. SV matching was performed using truvari bench and is detailed in Methods: Measuring Genotyping Performance.

Program GT Concordance TP-base TP-comp FP FN precision recall f1
kanpig 86.6% 22,671 21,640 598 1,129 0.973 0.953 0.963
SVJedi 42.8% 25,153 25,317 19,515 327 0.564 0.987 0.718
cuteSV-fc 12.8% 22,928 22,981 104,495 1,051 0.180 0.956 0.303
sniffles-fc 12.3% 24,886 24,986 121,394 763 0.171 0.970 0.290