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cvlr: finding heterogeneously methylated genomic regions using ONT reads
SUMMARY: Nanopore reads encode information on the methylation status of cytosines in CpG dinucleotides. The length of the reads makes it comparatively easy to look at patterns consisting of multiple loci; here, we exploit this property to search for regions where one can define subpopulations of mol...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887406/ https://www.ncbi.nlm.nih.gov/pubmed/36726731 http://dx.doi.org/10.1093/bioadv/vbac101 |
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author | Raineri, Emanuele Alberola i Pla, Mariona Dabad, Marc Heath, Simon |
author_facet | Raineri, Emanuele Alberola i Pla, Mariona Dabad, Marc Heath, Simon |
author_sort | Raineri, Emanuele |
collection | PubMed |
description | SUMMARY: Nanopore reads encode information on the methylation status of cytosines in CpG dinucleotides. The length of the reads makes it comparatively easy to look at patterns consisting of multiple loci; here, we exploit this property to search for regions where one can define subpopulations of molecules based on methylation patterns. As an example, we run our clustering algorithm on known imprinted genes; we also scan chromosome 15 looking for windows corresponding to heterogeneous methylation. Our software can also compute the covariance of methylation across these regions while keeping into account the mixture of different types of reads. AVAILABILITY AND IMPLEMENTATION: https://github.com/EmanueleRaineri/cvlr. CONTACT: simon.heath@cnag.crg.eu SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics Advances online. |
format | Online Article Text |
id | pubmed-9887406 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-98874062023-01-31 cvlr: finding heterogeneously methylated genomic regions using ONT reads Raineri, Emanuele Alberola i Pla, Mariona Dabad, Marc Heath, Simon Bioinform Adv Applications Note SUMMARY: Nanopore reads encode information on the methylation status of cytosines in CpG dinucleotides. The length of the reads makes it comparatively easy to look at patterns consisting of multiple loci; here, we exploit this property to search for regions where one can define subpopulations of molecules based on methylation patterns. As an example, we run our clustering algorithm on known imprinted genes; we also scan chromosome 15 looking for windows corresponding to heterogeneous methylation. Our software can also compute the covariance of methylation across these regions while keeping into account the mixture of different types of reads. AVAILABILITY AND IMPLEMENTATION: https://github.com/EmanueleRaineri/cvlr. CONTACT: simon.heath@cnag.crg.eu SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics Advances online. Oxford University Press 2023-01-23 /pmc/articles/PMC9887406/ /pubmed/36726731 http://dx.doi.org/10.1093/bioadv/vbac101 Text en © The Author(s) 2023. 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 | Applications Note Raineri, Emanuele Alberola i Pla, Mariona Dabad, Marc Heath, Simon cvlr: finding heterogeneously methylated genomic regions using ONT reads |
title | cvlr: finding heterogeneously methylated genomic regions using ONT reads |
title_full | cvlr: finding heterogeneously methylated genomic regions using ONT reads |
title_fullStr | cvlr: finding heterogeneously methylated genomic regions using ONT reads |
title_full_unstemmed | cvlr: finding heterogeneously methylated genomic regions using ONT reads |
title_short | cvlr: finding heterogeneously methylated genomic regions using ONT reads |
title_sort | cvlr: finding heterogeneously methylated genomic regions using ont reads |
topic | Applications Note |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887406/ https://www.ncbi.nlm.nih.gov/pubmed/36726731 http://dx.doi.org/10.1093/bioadv/vbac101 |
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