Fig. 4: Benchmarking of SV detection algorithms.

a, The somatic SVs and copy number profiles detected using GRIDSS2 and PURPLE in whole-genome short-read sequencing data. b–h,The somatic SVs were detected in matched long-read nanopore WGS data (lrWGS) using SAVANA (b), Severus (c), NanomonSV (d), SVision-pro (e), SVIM (f), Sniffles2 (g) and cuteSV (h). The copy number profiles shown in a–h were calculated using PURPLE and the short-read sequencing data. The total and minor allele copy number data in a–h are represented in black and blue, respectively. DEL, deletion-like rearrangement; DUP, duplication-like rearrangement; h2hINV, head-to-head inversion; t2tINV, tail-to-tail inversion. The lines with a square at the top represent single breakends, and the lines with arrowheads mark insertions.