Poster Presentation 39th Annual Lorne Genome Conference 2018

Differential methylation analysis of reduced representation bisulfite sequencing experiments (#122)

Yunshun Chen 1 2 , Bhupinder Pal 1 2 , Jane Visvader 1 2 , Gordon Smyth 1 3
  1. Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia
  2. Department of Medical Biology, The University of Melbourne, Parkville, VIC, Australia
  3. Department of Mathematics and Statistics, The University of Melbourne, Parkville, VIC, Australia

Studies in epigenetics have shown that DNA methylation is a key factor in regulating gene expression. DNA methylation typically occurs in CpG context. When located in a gene promoter, DNA methylation often acts to repress transcription and gene expression. The most commonly used technology of studying DNA methylation is bisulfite sequencing (BS-seq), which can be used to measure genomewide methylation levels on the single-nucleotide scale. Notably, BS-seq can also be combined with enrichment strategies such as reduced representation bisulfite sequencing (RRBS) to target CpG-rich regions in order to save per-sample costs.

A typical DNA methylation analysis often involves identifying differentially methylated regions (DMRs) between different experimental conditions. Many statistical methods have been developed for finding DMRs in BS-seq data. In this talk, I will describe a novel approach of detecting DMRs using edgeR. A case study will be provided to demonstrate how differential methylation analyses can be fit into the existing pipelines specifically designed for RNA-seq differential expression studies. The method proposed in the talk can be applied to any BS-seq data that includes some replication, but it is especially appropriate for RRBS data with small numbers of biological replicates.