De novo basecalling of RNA modifications at single molecule and nucleotide resolution

Abstract RNA modifications influence RNA function and fate, but detecting them in individual molecules remains challenging for most modifications. Here we present a novel methodology to generate training sets and build modification-aware basecalling models. Using this approach, we develop the m 6 AB...

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Main Authors: Sonia Cruciani, Anna Delgado-Tejedor, Leszek P. Pryszcz, Rebeca Medina, Laia Llovera, Eva Maria Novoa
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Genome Biology
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Online Access:https://doi.org/10.1186/s13059-025-03498-6
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author Sonia Cruciani
Anna Delgado-Tejedor
Leszek P. Pryszcz
Rebeca Medina
Laia Llovera
Eva Maria Novoa
author_facet Sonia Cruciani
Anna Delgado-Tejedor
Leszek P. Pryszcz
Rebeca Medina
Laia Llovera
Eva Maria Novoa
author_sort Sonia Cruciani
collection DOAJ
description Abstract RNA modifications influence RNA function and fate, but detecting them in individual molecules remains challenging for most modifications. Here we present a novel methodology to generate training sets and build modification-aware basecalling models. Using this approach, we develop the m 6 ABasecaller, a basecalling model that predicts m6A modifications from raw nanopore signals. We validate its accuracy in vitro and in vivo, revealing stable m6A modification stoichiometry across isoforms, m6A co-occurrence within RNA molecules, and m6A-dependent effects on poly(A) tails. Finally, we demonstrate that our method generalizes to other RNA and DNA modifications, paving the path towards future efforts detecting other modifications.
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issn 1474-760X
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publishDate 2025-02-01
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spelling doaj-art-9b1daf4e53d046968add11dd4bd874902025-08-20T03:04:34ZengBMCGenome Biology1474-760X2025-02-0126113610.1186/s13059-025-03498-6De novo basecalling of RNA modifications at single molecule and nucleotide resolutionSonia Cruciani0Anna Delgado-Tejedor1Leszek P. Pryszcz2Rebeca Medina3Laia Llovera4Eva Maria Novoa5Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and TechnologyCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and TechnologyCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and TechnologyCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and TechnologyCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and TechnologyCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and TechnologyAbstract RNA modifications influence RNA function and fate, but detecting them in individual molecules remains challenging for most modifications. Here we present a novel methodology to generate training sets and build modification-aware basecalling models. Using this approach, we develop the m 6 ABasecaller, a basecalling model that predicts m6A modifications from raw nanopore signals. We validate its accuracy in vitro and in vivo, revealing stable m6A modification stoichiometry across isoforms, m6A co-occurrence within RNA molecules, and m6A-dependent effects on poly(A) tails. Finally, we demonstrate that our method generalizes to other RNA and DNA modifications, paving the path towards future efforts detecting other modifications.https://doi.org/10.1186/s13059-025-03498-6Nanopore sequencingNative RNARNA modificationsMachine learningN6-methyladenosineBasecalling
spellingShingle Sonia Cruciani
Anna Delgado-Tejedor
Leszek P. Pryszcz
Rebeca Medina
Laia Llovera
Eva Maria Novoa
De novo basecalling of RNA modifications at single molecule and nucleotide resolution
Genome Biology
Nanopore sequencing
Native RNA
RNA modifications
Machine learning
N6-methyladenosine
Basecalling
title De novo basecalling of RNA modifications at single molecule and nucleotide resolution
title_full De novo basecalling of RNA modifications at single molecule and nucleotide resolution
title_fullStr De novo basecalling of RNA modifications at single molecule and nucleotide resolution
title_full_unstemmed De novo basecalling of RNA modifications at single molecule and nucleotide resolution
title_short De novo basecalling of RNA modifications at single molecule and nucleotide resolution
title_sort de novo basecalling of rna modifications at single molecule and nucleotide resolution
topic Nanopore sequencing
Native RNA
RNA modifications
Machine learning
N6-methyladenosine
Basecalling
url https://doi.org/10.1186/s13059-025-03498-6
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