Calling differentially methylated regions from whole genome bisulphite sequencing with DMRcate.

ABSTRACT: Whole genome bisulphite sequencing (WGBS) permits the genome-wide study of single molecule methylation patterns. One of the key goals of mammalian cell-type identity studies, in both normal differentiation and disease, is to locate differential methylation patterns across the genome. We discuss the most desirable characteristics for DML (differentially methylated locus) and DMR (differentially methylated region) detection tools in a genome-wide context and choose a set of statistical methods that fully or partially satisfy these considerations to compare for benchmarking. Our data simulation strategy is both biologically informed-employing distribution parameters derived from large-scale consortium datasets-and thorough. We report DML detection ability with respect to coverage, group methy

SUBMITTER: Peters TJ 

PROVIDER: S-EPMC8565305 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature