Probabilistic Mixture Models Improve Calibration of Panel-derived Tumor Mutational Burden in the Context of both Tumor-normal and Tumor-only Sequencing.

ABSTRACT:

Background

Tumor mutational burden (TMB) has been investigated as a biomarker for immune checkpoint blockade (ICB) therapy. Increasingly, TMB is being estimated with gene panel-based assays (as opposed to full exome sequencing) and different gene panels cover overlapping but distinct genomic coordinates, making comparisons across panels difficult. Previous studies have suggested that standardization and calibration to exome-derived TMB be done for each panel to ensure comparability. With TMB cutoffs being developed from panel-based assays, there is a need to understand how to properly estimate exomic TMB values from different panel-based assays.

Design

Our approach to calibration of panel-derived TMB to exomic TMB proposes the use of probabilistic mixture models that allow f

SUBMITTER: Anaya J 

PROVIDER: S-EPMC10044680 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature