WGS results in the reclassification of some cases of TP53-mutated MDS/AML. (A) Combinations of mutation types affecting TP53 in AML/MDS cases, and corresponding proportion in cohort. (B) Complex SV affecting the TP53 genetic locus is detected using WGS based on resolution of rearrangements involving ch7, chr12, chr2, and NF1 on chr17p. Copy-number losses are shown in red. Gray arcs indicate regions linked by SV. (C) CN-LOH affecting chr17p is detected using WGS based on shifts in B-allele frequency (top) whereas log₂ copy-number ratio remains 0 (bottom). Vertical line indicates the position of the TP53 locus.