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DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data

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. H...

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Autores principales: Bonet, Jose, Chen, Mandi, Dabad, Marc, Heath, Simon, Gonzalez-Perez, Abel, Lopez-Bigas, Nuria, Lagergren, Jens
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826383/
https://www.ncbi.nlm.nih.gov/pubmed/34718417
http://dx.doi.org/10.1093/bioinformatics/btab745
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author Bonet, Jose
Chen, Mandi
Dabad, Marc
Heath, Simon
Gonzalez-Perez, Abel
Lopez-Bigas, Nuria
Lagergren, Jens
author_facet Bonet, Jose
Chen, Mandi
Dabad, Marc
Heath, Simon
Gonzalez-Perez, Abel
Lopez-Bigas, Nuria
Lagergren, Jens
author_sort Bonet, Jose
collection PubMed
description 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.com/pepebonet/DeepMP. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-88263832022-02-09 DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data Bonet, Jose Chen, Mandi Dabad, Marc Heath, Simon Gonzalez-Perez, Abel Lopez-Bigas, Nuria Lagergren, Jens Bioinformatics Original Papers 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.com/pepebonet/DeepMP. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2021-10-28 /pmc/articles/PMC8826383/ /pubmed/34718417 http://dx.doi.org/10.1093/bioinformatics/btab745 Text en © The Author(s) 2021. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Papers
Bonet, Jose
Chen, Mandi
Dabad, Marc
Heath, Simon
Gonzalez-Perez, Abel
Lopez-Bigas, Nuria
Lagergren, Jens
DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data
title DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data
title_full DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data
title_fullStr DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data
title_full_unstemmed DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data
title_short DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data
title_sort deepmp: a deep learning tool to detect dna base modifications on nanopore sequencing data
topic Original Papers
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826383/
https://www.ncbi.nlm.nih.gov/pubmed/34718417
http://dx.doi.org/10.1093/bioinformatics/btab745
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