Figure 1.
Comprehensive genome profiling using WGS. (A) Heatmap describing the presence of genomic markers detected via WGS in 52 cases, with samples in columns and markers in rows: (a) focal deletions (<10 Mb) in tumor suppressor genes, (b) small mutations (SNV/insertion and deletion) in cancer genes, (c) recurrent gene rearrangements seen in ALL, (d) arm-level CNA, (e) outlier SBS mutational signature profile, (f) germ line variant, and (g) outlier tumor mutation burden (TMB). (B) Oncoplot of true B-other cases (n = 47) showing subtype defining lesions and recurrent deletion events and genes recurrently targeted by small mutations (SNVs/INDELs) in OncoKB or putative drivers identified in the “other” category. (C) Comparison of WGS-defined subtypes with RNA expression subtype classification and RNA fusion calling in 31 cases with both DNA and RNA data available. ∗ denotes samples with suboptimal copy number profiles; ITD, internal tandem duplication.

Comprehensive genome profiling using WGS. (A) Heatmap describing the presence of genomic markers detected via WGS in 52 cases, with samples in columns and markers in rows: (a) focal deletions (<10 Mb) in tumor suppressor genes, (b) small mutations (SNV/insertion and deletion) in cancer genes, (c) recurrent gene rearrangements seen in ALL, (d) arm-level CNA, (e) outlier SBS mutational signature profile, (f) germ line variant, and (g) outlier tumor mutation burden (TMB). (B) Oncoplot of true B-other cases (n = 47) showing subtype defining lesions and recurrent deletion events and genes recurrently targeted by small mutations (SNVs/INDELs) in OncoKB or putative drivers identified in the “other” category. (C) Comparison of WGS-defined subtypes with RNA expression subtype classification and RNA fusion calling in 31 cases with both DNA and RNA data available. ∗ denotes samples with suboptimal copy number profiles; ITD, internal tandem duplication.

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