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Fig. 6 | BMC Medical Informatics and Decision Making

Fig. 6

From: SwissMTB: establishing comprehensive molecular cancer diagnostics in Swiss clinics

Fig. 6

Example for therapy categories for a melanoma patient presenting (among other mutations) several copy number mutations, an FGFR4 overexpression, and a BRAF V600E point mutation, identified based on WES, WGS, and RNA-seq data. Each table is structured as follows: Column “Gene” shows the name of the affected gene. Column “Variant” either contains the exact amino acid change resulting from a point mutation, or states the copy number change (amplification or deletion), or presents the change observed by the RNA-seq analysis (e.g. overexpression). Column “Frequency or Copy number” presents the variant frequency of point mutations (in percent), or presents the copy number observed for the affected gene. Column “Relative gene expression” includes the boxplot that shows the expression of the particular gene in comparison to the TCGA cohort of the same cancer type. For ease of interpretation, the different types of boxplot are explained in the “Guide section” of the clinical report, Additional file 1. Column “Pathway/Function” gives details on the functions of a gene. Column “Therapy” shows the name of the drug with a potential drug-gene interaction, while columns “Confidence” and “References” present the confidence level and the literature support of the drug-gene interaction, respectively

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