EpialleleR: an R/Bioconductor package for sensitive allele-specific methylation analysis in NGS data.

ABSTRACT: Low-level mosaic epimutations within the BRCA1 gene promoter occur in 5-8% of healthy individuals and are associated with a significantly elevated risk of breast and ovarian cancer. Similar events may also affect other tumor suppressor genes, potentially being a significant contributor to cancer burden. While this opens a new area for translational research, detection of low-level mosaic epigenetic events requires highly sensitive and robust methodology for methylation analysis. We here present epialleleR, a computational framework for sensitive detection, quantification, and visualization of mosaic epimutations in methylation sequencing data. Analyzing simulated and real data sets, we provide in-depth assessments of epialleleR performance and show that linkage to epihaplotype data is nece

SUBMITTER: Nikolaienko O 

PROVIDER: S-EPMC10622323 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature