Fig. 1

Validation of sequencing analysis. a Average read depth of 96.3% of the targets is within one order of magnitude. For every region (hotspot or whole exon) the mean coverage was calculated per sample. By dividing the mean coverage per region through the median coverage in a specific sample, the mean relative coverage for each region was defined. The average of the mean relative coverage per region of 10 samples is plotted. b 57 samples distributed over the indications lung, colon, melanoma, GIST, and miscellaneous (analysis in the context of evaluating clinical trial options) were sequenced and compared with the current routine diagnostics panel. c Percentage of samples with a specific number of mutations. d The variant allele frequencies (VAF) of the 32 mutations identified by both the PATH panel and the cancer hotspot panel. e Mutations detected in the 52 samples successfully sequenced during the validation phase. Dark red indicates mutations identified with both panels (cancer hotspot panel and PATH panel). Light red indicates additional mutations identified using the PATH panel. ‘2’ indicates two different mutations identified in the same gene. Dark and light purple indicates variants of unknown significance (VUS) identified by both panels or PATH panel only, respectively