Bias and inconsistency in the estimation of tumour mutation burden.

ABSTRACT:

Background

Tumour mutation burden (TMB), defined as the number of somatic mutations per megabase within the sequenced region in the tumour sample, has been used as a biomarker for predicting response to immune therapy. Several studies have been conducted to assess the utility of TMB for various cancer types; however, methods to measure TMB have not been adequately evaluated. In this study, we identified two sources of bias in current methods to calculate TMB.

Methods

We used simulated data to quantify the two sources of bias and their effect on TMB calculation, we down-sampled sequencing reads from exome sequencing datasets from TCGA to evaluate the consistency in TMB estimation across different sequencing depths. We analyzed data from ten cancer cohorts to investigate the r

SUBMITTER: Makrooni MA 

PROVIDER: S-EPMC9347149 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature