Leveraging non-coding regions to guarantee the accuracy of small-sized panel-based tumor mutational burden estimates.

ABSTRACT: Accurate estimation of tumor mutational burden (TMB) as a predictor of responsiveness to immune checkpoint inhibitors in gene panel assays requires an adequate panel size. The current calculations of TMB only consider coding regions, while most of gene panel assays interrogate non-coding regions. Leveraging the non-coding regions is a potential solution to address this panel size limitation. However, the impact of including non-coding regions on the accuracy of TMB estimates remains unclear. This study investigated the validity of leveraging non-coding regions to supplement panel size using the OncoGuide NCC Oncopanel System (NOP). The aim of this study was to evaluate test performance against orthogonal assays and the association with responsiveness to immune checkpoint inhibitors was not

SUBMITTER: Nishino T 

PROVIDER: S-EPMC11611766 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature