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DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data
Barcelona Inst Sci & Technol, Inst Res Biomed IRB Barcelona, Barcelona 08028, Spain.;Univ Pompeu Fabra, Res Program Biomed Informat, Barcelona 08002, Catalonia, Spain..
KTH, School of Electrical Engineering and Computer Science (EECS), Computer Science, Computational Science and Technology (CST). KTH, Centres, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0003-1880-1730
Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Barcelona, Spain.;Univ Pompeu Fabra UPF, Barcelona, Spain..ORCID iD: 0000-0002-6094-747X
Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Barcelona, Spain.;Univ Pompeu Fabra UPF, Barcelona, Spain..
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2022 (English)In: Bioinformatics, ISSN 1367-4803, E-ISSN 1367-4811, Vol. 38, no 5, p. 1235-1243Article in journal (Refereed) Published
Abstract [en]

Motivation: DNA methylation plays a key role in a variety of biological processes. Recently, Nanopore long-read sequencing has enabled direct detection of these modifications. As a consequence, a range of computational methods have been developed to exploit Nanopore data for methylation detection. However, current approaches rely on a human-defined threshold to detect the methylation status of a genomic position and are not optimized to detect sites methylated at low frequency. Furthermore, most methods use either the Nanopore signals or the basecalling errors as the model input and do not take advantage of their combination. Results: Here, we present DeepMP, a convolutional neural network-based model that takes information from Nanopore signals and basecalling errors to detect whether a given motif in a read is methylated or not. Besides, DeepMP introduces a threshold-free position modification calling model sensitive to sites methylated at low frequency across cells. We comprehensively benchmarked DeepMP against state-of-the-art methods on Escherichia coli, human and pUC19 datasets. DeepMP outperforms current approaches at read-based and position-based methylation detection across sites methylated at different frequencies in the three datasets. Availability and implementation: DeepMP is implemented and freely available under MIT license at https://github.

Place, publisher, year, edition, pages
Oxford University Press (OUP) , 2022. Vol. 38, no 5, p. 1235-1243
National Category
Medical Genetics and Genomics
Identifiers
URN: urn:nbn:se:kth:diva-311301DOI: 10.1093/bioinformatics/btab745ISI: 000776280200008PubMedID: 34718417Scopus ID: 2-s2.0-85125504170OAI: oai:DiVA.org:kth-311301DiVA, id: diva2:1653331
Note

QC 20220421

Available from: 2022-04-21 Created: 2022-04-21 Last updated: 2025-02-10Bibliographically approved

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Chen, MandiLagergren, Jens

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Chen, MandiDabad, MarcGonzalez-Perez, AbelLopez-Bigas, NuriaLagergren, Jens
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