Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package.

ABSTRACT: Epimutations are rare alterations of the normal DNA methylation pattern at specific loci, which can lead to rare diseases. Methylation microarrays enable genome-wide epimutation detection, but technical limitations prevent their use in clinical settings: methods applied to rare diseases' data cannot be easily incorporated to standard analyses pipelines, while epimutation methods implemented in R packages (ramr) have not been validated for rare diseases. We have developed epimutacions, a Bioconductor package (https://bioconductor.org/packages/release/bioc/html/epimutacions.html). epimutacions implements two previously reported methods and four new statistical approaches to detect epimutations, along with functions to annotate and visualize epimutations. Additionally, we

SUBMITTER: Ruiz-Arenas C 

PROVIDER: S-EPMC10327521 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature