Fig. 1

SV type specificity of SV detection algorithms. Precision and recall of DELs, DUPs, INSs, and INVs were determined with the simulated (a) and the NA12878 real data (b). Modified F-measures (the combined statistics for precision and recall (see the “Methods” section for details)) are shown for the algorithms indicated with blue (for DEL), red (for DUP), orange (for INS), and purple (for INV) bars. The mean values of the results obtained with the four NA12878 real datasets (three PacBio datasets for long reads) are indicated. The algorithms were categorized according to the methods used to detect SV signals (RP, read pairs; SR, split reads; RD, read depth; AS, assembly; LR, long reads) and their combined methods (RP-SR, RP-RD, RP-AS, RP-SR-AS, and RP-SR-RD)