Fig. 3
From: Tumor mutational burden quantification from targeted gene panels: major advancements and challenges
Differences in the workflow for panel-based TMB quantification. a. Overview of the factors influencing panel-based TMB quantification. Several variables in library construction, sequencing and in the pipeline to call mutations influence panel-based TMB quantification. Furthermore, panel-based TMB quantification is influenced by differences in the bioinformatic method to extrapolate global TMB from mutations identified in the narrow genomic region targeted by the gene panel. b. Differences across various studies in panel-based TMB quantification: gene panel technical specifications, preanalytical factors and the bioinformatics workflow used to extrapolate from the genomic space targeted by gene panels global TMB are described. FM1: Foundation Medicine’s FoundationOne panel (v1: 185 genes, v2: 236 genes, v3: 315 genes, v4: 405 genes); NA: not available; ±: algorithm developed by Sun et al. for in silico removal of germline variants [74]