Fig. 4: Additional relevant findings detected by cWGTS as compared with standard of care.

a Heatmap of additional relevant findings by cWGTS colored by what technology (WES, WGS, and RNA-seq) may detect each event. Columns represent patients, while rows are clinical event types. The asterisks for Germline indicate pathogenicity supported by mutational signatures. b (top) Stacked-bar breakdown of patients with clinically relevant findings by assay. The blue areas (solid or meshed) represent patients with relevant findings from targeted sequencing (RNA and DNA), while the orange areas (solid or meshed) are for patients with findings from cWGTS. The blue/orange mesh indicates patients that had relevant findings from both targeted sequencing and WGTS. (bottom) Stacked-bar breakdown of findings specific to cWGTS from the patients in the orange section (solid or meshed) from top. The relevant findings are colored by event type. SV, structural variant. TMB, tumor mutation burden. MSI, microsatellite instability. Small Mut, small mutations, including substitutions and insertion/deletions. Viral, viral integration. Source data for panels a, b are provided in Supplementary Data 3.