Language

English

Publication Date

9-1-2025

Journal

Nature Reviews Genetics

DOI

10.1038/s41576-025-00822-5

PMID

40155770

PMCID

PMC12882999

PubMedCentral® Posted Date

2-9-2026

PubMedCentral® Full Text Version

Author MSS

Abstract

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 Review, 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.

Keywords

DNA Methylation, Humans, Epigenesis, Genetic, Computational Biology, Sequence Analysis, DNA, High-Throughput Nucleotide Sequencing, Animals, Chromatin, Epigenomics

Published Open-Access

yes

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