Work

wgbstools : a computational suite for DNA methylation sequencing data analysis

Year: 2026

Type: article

Abstract: Next-generation methylation-aware sequencing of DNA sheds light on the fundamental role of methylation in cellular function in health and disease, increasing the number of covered CpG sites from hundreds of thousands in previous array-based approaches to tens of millions across the whole genome. While array-based approaches are limited to single-CpG resolution, next-generation sequencing allows for a more detailed, single-molecule fragment-level analysis; however, existing tools to fully use this capability are not yet well developed. Here, we present wgbstools , an extensive computational suite tailored for methylation sequencing data. wgbstools allows fast access and ultracompact anonymized representation of high-throughput methylome data, obtained through various library preparation and sequencing methods, with a custom epiread file format achieving a compression factor of over 100x from the input BAM file. In addition, wgbstools contains state-of-the-art algorithms for genomic segmentation, biomarker identification, genetic and epigenetic data integration, and more. wgbstools offers fragment-level analysis and informative visualizations, across multiple genomic regions and samples.

Source: Life Science Alliance

DOI: 10.26508/lsa.202503514

Authors: Netanel Loyfer, Jonathan Rosenski, Tommy Kaplan

Institutions: Hebrew University of Jerusalem, Queen Mary University of London, Barts Cancer Institute

Language: English

Topic: Epigenetics and DNA Methylation

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: gold

Estimated APC paid: $3,500

Funders: Israel Science Foundation, HORIZON EUROPE Framework Programme