Fig. 7. Extracted copy number (CN) feature profiles from whole-genome sequencing (WGS) and whole-exome sequencing (WES) are highly analogous.

a An example of chromothripsis from the CoMMpass dataset (MMRF_1646_1_BM; chr: chromosome). The horizontal black line indicates total copy number; the dashed orange line minor copy number. Vertical lines represent structural variant breakpoints for deletion (red), inversion (blue), tandem-duplication (green), and translocations (black), involving chromosomes 6 and 9. The extracted CN category profile from the same example patient (MMRF_1646_1_BM) from b WGS and c WES.