Restriction site associated DNA sequencing for tumour mutation burden estimation and mutation signature analysis.

ABSTRACT:

Background

Genome-wide measures of genetic disruption such as tumour mutation burden (TMB) and mutation signatures are emerging as useful biomarkers to stratify patients for treatment. Clinicians commonly use cancer gene panels for tumour mutation burden estimation, and whole genome sequencing is the gold standard for mutation signature analysis. However, the accuracy and cost associated with these assays limits their utility at scale.

Methods

WGS data from 560 breast cancer patients was used for in silico library simulations to evaluate the accuracy of an FDA approved cancer gene panel as well as restriction enzyme associated DNA sequencing (RADseq) libraries for TMB estimation and mutation signature analysis. We also transfected a mouse mammary cell line with APOBEC enzyme

SUBMITTER: McGuinness CF 

PROVIDER: S-EPMC10726921 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature