Figure 2. Benchmarking of Severus and other SV callers with the existing benchmarking sets.
(a) SV numbers and types for each benchmark and (b) the corresponding F1 scores. HG002 represents the GIAB HG002 SV benchmark; CHM1/CHM13 represents a synthetic mix of CHM1 and CHM13 PacBio HiFi data, with CHM1 sequencing as normal. Both HG002 and CHM1/CHM13 are computed inside the GIAB HG002 Tier1 confident regions. The COLO829 benchmark is evaluated against the Valle-Inclan et al. (2022) call set. F1 scores are computed using Minda. DEL = Deletion, BND = breakend junction, DUP = duplication, INV = inversion, INS = insertion.