acc-bioinfo/TMBleR: Tumor Mutational Burden Quantification From Gene Panels And WES

The TMBleR R package allows to calculate TMB from gene panels with a custom combination of the most common parameters for variant filtering adopted in literature (removal of known cancer variants, filtering by VAF, etc). It also allows to plot TMB distributions across several samples or based on different set of filtering parameters, to calculate and plot the correlation between panel-based and WES-based TMB quantification, to simulate a gene panel performance by downsampling a WES dataset, to build ROC curves to evaluate TMB performance in predicting immunotherapy responders and to determine the optimal TMB cutoff for immunotherapy responders identification.

install.packages("remotes")
remotes::install_github("acc-bioinfo/TMBleR")