metilene: fast and sensitive calling of differentially methylated regions from bisulfite sequencing data

By Frank Jühling, H. Kretzmer, Stephan H. Bernhart, C. Otto, Peter F. Stadler, S. Hoffmann. Genome Research, 2016

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The detection of differentially methylated regions (DMRs) is a necessary prerequisite for characterizing different epigenetic states. We present a novel program, metilene, to identify DMRs within whole-genome and targeted data with unrivaled specificity and sensitivity. A binary segmentation algorithm combined with a two-dimensional statistical test allows the detection of DMRs in large methylation experiments with multiple groups of samples in minutes rather than days using off-the-shelf hardware. metilene outperforms other state-of-the-art tools for low coverage data and can estimate missing data. Hence, metilene is a versatile tool to study the effect of epigenetic modifications in differentiation/development, tumorigenesis, and systems biology on a global, genome-wide level. Whether in the framework of international consortia with dozens of samples per group, or even without biological replicates, it produces highly significant and reliable results.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/50746dcd70b68e7e7521d5afb1140ce0c66a2600