TMBur: a distributable tumor mutation burden approach for whole genome sequencing.

ABSTRACT:

Background

Tumor mutation burden (TMB) is a key characteristic used in a tumor-type agnostic context to inform the use of immune checkpoint inhibitors (ICI). Accurate and consistent measurement of TMB is crucial as it can significantly impact patient selection for therapy and clinical trials, with a threshold of 10 mutations/Mb commonly used as an inclusion criterion. Studies have shown that the most significant contributor to variability in mutation counts in whole genome sequence (WGS) data is differences in analysis methods, even more than differences in extraction or library construction methods. Therefore, tools for improving consistency in whole genome TMB estimation are of clinical importance.

Methods

We developed a distributable TMB analysis suite, TMBur, to address

SUBMITTER: Titmuss E 

PROVIDER: S-EPMC9450342 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature