Tumor mutational burden (TMB) and Mutational Signatures (MS)

TMB (Tumor Mutational Burden) - Measurement of mutations carried by tumor cells.

Input: number of filtered variants and loci
Output: Mutations per Mb value
Formula used: number of filtered variants/number of megabases of callable loci

Mutational Signatures (MS) - Distinctive patterns of somatic mutations hidden in cancer genomes

Input: vcf
Output: weights of each signature and various plots
Package used: https://github.com/raerose01/deconstructSigs

Code Link

https://github.com/stevekm/tmb-signatures-analysis