Ramr: an R/Bioconductor package for detection of rare aberrantly methylated regions.

ABSTRACT:

Motivation

With recent advances in the field of epigenetics, the focus is widening from large and frequent disease- or phenotype-related methylation signatures to rare alterations transmitted mitotically or transgenerationally (constitutional epimutations). Merging evidence indicate that such constitutional alterations, albeit occurring at a low mosaic level, may confer risk of disease later in life. Given their inherently low incidence rate and mosaic nature, there is a need for bioinformatic tools specifically designed to analyze such events.

Results

We have developed a method (ramr) to identify aberrantly methylated DNA regions (AMRs). ramr can be applied to methylation data obtained by array or next-generation sequencing techniques to discover AMRs being associated with

SUBMITTER: Nikolaienko O 

PROVIDER: S-EPMC8696093 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature