Fig. 5

Evaluation of CSV predictions. a Validation scores of CSV predicted in NA12878 from all algorithms ranked and normalized from 0 to 1 for comparison. For approaches with multiple predicted SVs in a region, average scores from each prediction were averaged. b IGV screenshot of example complex region in CHM1 (chr1:14435000-1444000) containing multiple deletions (blue shaded arrows) and a translocated region (green arrow), with surrounding anchor regions in black. Light green lines in IGV indicate RPs with reverse-forward orientation, while red lines indicate RPs with aberrant IS length. c Dot plot of region between an individual PacBio read (SRR1304376.123525) against the reference sequence. Colored arrows correspond to segments indicated in (b). d Dot plot of altered reference sequence implementing predicted rearrangements by SVelter. e Schematic of predictions by each SV algorithm with respect to segments indicated in (b). For approaches with multiple predictions overlapping the region, each predicted SV is shown independently