Figure 6: Comprehensive analysis of two tumours.
From: Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency
(a) A genome-wide plot depicting mutational burden, SCNAs and intra- and inter-chromosomal structural variants. Large structural rearrangements have been detected from whole-genome mate-pair sequencing data as described in Supplementary Note 1 and Supplementary Methods. (b) Copy-number profile of selected chromosomes targeted by chromoplexy. Note that chromoplexy likely overlaps with additional structural events including chromothripsis-like events and breakage–bridge fusions. (c) Posterior cellular frequencies of somatic exome mutations. Main driver genes are in blue.
