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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Determining mutational burden and signature using RNA-seq from tumor-only samples

Fig. 1

Filtering process to enrich for somatic variants in tumor-only, RNA-seq TCGA samples. a Filtering workflow to enrich for somatic variants. Step 1: filter based on Q-score and number of supporting reads to reduce sequencing errors appearing as variants. Step 2: remove all variants that are present in the population variant database dbSNP. Step 3: remove variants with allelic frequencies between 0.45 and 0.55, and 0.95 and 1. b Number of variants at each stage of the filtering process. c Allelic frequency plot for a representative sample with sub-clonal, mosaic variants in yellow and potential germline variants in red. d Mutational signature of germline variants derived from the variants filtered out by referencing dbSNP. e Mutational burden for all samples (MSS in blue, MSI-H in black, and POLɛ in red) compared to the regression coefficient to the germline (dbSNP) signature

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