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pycoMeth: a toolbox for differential methylation testing from Nanopore methylation calls

René Snajder, Adrien Léger, Oliver Stegle, Marc Jan Bonder

2023Genome biology16 citationsDOIOpen Access PDF

Abstract

We present pycoMeth, a toolbox to store, manage and analyze DNA methylation calls from long-read sequencing data obtained using the Oxford Nanopore Technologies sequencing platform. Building on a novel, rapid-access, read-level and reference-anchored methylation storage format MetH5, we propose efficient algorithms for haplotype aware, multi-sample consensus segmentation and differential methylation testing. We show that MetH5 is more efficient than existing solutions for storing Oxford Nanopore Technologies methylation calls, and carry out benchmarking for pycoMeth segmentation and differential methylation testing, demonstrating increased performance and sensitivity compared to existing solutions designed for short-read methylation data.

Topics & Concepts

BiologyMethylationHuman geneticsComputational biologyToolboxDNA methylationEvolutionary biologyGeneticsGenome BiologyDifferential (mechanical device)GenomicsGeneGenomeComputer scienceGene expressionEngineeringProgramming languageAerospace engineeringRNA modifications and cancerGenomics and Phylogenetic StudiesTopic Modeling
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