Computational analysis of DNA methylation from long-read sequencing

DNA methylation is a critical epigenetic mechanism in numerous biological processes, including gene regulation, development, ageing and the onset of various diseases such as cancer. Studies of methylation are increasingly using single-molecule long-read sequencing technologies to simultaneously measure epigenetic states such as DNA methylation with genomic variation. These long-read data sets have spurred the continuous development of advanced computational methods to gain insights into the roles of methylation in regulating chromatin structure and gene regulation. In this presentation, we discuss the computational methods for calling methylation signals, contrasting methylation between samples, analysing cell-type diversity and gaining additional genomic insights, and then further discuss the challenges and future perspectives of tool development for DNA methylation research.

Despite summarizing the computational approaches, we will also discuss the usage of DNA methylation's cross talk with somatic and mosaic structural variations. 

Learning Objectives:

1. Describe the role of DNA methylation in gene regulation, development, and disease progression.

2. Compare computational methods used to analyze DNA methylation signals from long-read sequencing data.

3. Assess current challenges and future directions in the development of tools for DNA methylation analysis using long-read sequencing.