Methylmap: visualization of modified nucleotides for large cohort sizes.

IF 2.9 3区生物学 Q2 BIOCHEMICAL RESEARCH METHODS

BMC Bioinformatics Pub Date : 2025-03-26 DOI:10.1186/s12859-025-06106-3

Elise Coopman, Svenn D'Hert, Rosa Rademakers, Wouter De Coster

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引用次数: 0

Abstract

Background: Over the years, there has been growing interest in epigenetics, where nucleotide modifications are increasingly recognized for their roles in health and disease. Understanding methylation patterns at the nucleotide level has become pivotal for advancing this field. However, visualizing these modifications, particularly in cohorts of more than a few individuals, remains a challenge.

Results: Here, we present methylmap, a tool developed to visualize modified nucleotide frequencies for regions of interest, specifically optimized for cohort sizes with more than a few individuals. Furthermore, methylmap features the visualization of the haplotype-specific methylation status of 226 individuals of the 1000 Genomes Project ONT Sequencing Consortium, sequenced using the Oxford Nanopore Technologies PromethION. This resource provides the research community with a comprehensive and complete overview of genome-wide methylation patterns.

Conclusions: Methylmap offers an easy-to-use platform to facilitate epigenetic research. It is available both as a web application at https://methylmap.bioinf.be and as a command-line tool through Bioconda and PyPI. As such, we provide a valuable resource for advancing the understanding of epigenetic modifications in health and disease.

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来源期刊

BMC Bioinformatics 生物-生化研究方法

CiteScore

5.70

自引率

3.30%

发文量

506

审稿时长

4.3 months

期刊介绍： BMC Bioinformatics is an open access, peer-reviewed journal that considers articles on all aspects of the development, testing and novel application of computational and statistical methods for the modeling and analysis of all kinds of biological data, as well as other areas of computational biology. BMC Bioinformatics is part of the BMC series which publishes subject-specific journals focused on the needs of individual research communities across all areas of biology and medicine. We offer an efficient, fair and friendly peer review service, and are committed to publishing all sound science, provided that there is some advance in knowledge presented by the work.