Evidence map›Paper›PMID 38365920›Full record

ArticleNature communications2024

A signal processing and deep learning framework for methylation detection using Oxford Nanopore sequencing.

Mian Umair Ahsan, Anagha Gouru, Joe Chan, Wanding Zhou, Kai Wang

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.

0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

67 citing papers in PubMed.

  1. Review
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  12. Draft genome sequence of the peptaibol producerMicrobiology resource announcements · 2026
    Article
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  17. Review
  18. Review
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  20. Emergence of a methicillin-susceptibleFrontiers in cellular and infection microbiology · 2026
    Article

7 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Mian Umair AhsanRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.ORCID 0000-0003-4725-2451
Anagha GouruRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.ORCID 0000-0001-5237-845X
Joe ChanRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Wanding ZhouCenter for Computational and Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.ORCID 0000-0001-9126-1932
Kai WangRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. wangk@chop.edu.ORCID 0000-0002-5585-982X

Funding

The Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI Michael Byrne Robinson · 2021 to 2026
$9.2M
Novel bioinformatics methods to detect DNA and RNA modifications using Nanopore long-read sequencingR01HG013359 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI Kai Wang · 2023 to 2026
$2.8M
Decoding Single-cell DNA Methylomes for Epigenetic Cell IdentityR35GM146978 · NIGMS · CHILDREN'S HOSP OF PHILADELPHIA · PI Wanding Zhou · 2022 to 2026
$2.2M
m6A-suite: an informatics pipeline and resource for elucidating roles of m6A epitranscriptome in cancerU01CA279618 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI HUANG, YUFEI · 2023 to 2025
$1.8M
NCI NIH HHS U01 CA279618NHGRI NIH HHS R01 HG013359NICHD NIH HHS P50 HD105354NIGMS NIH HHS R35 GM146978
6 · The paper itself

Abstract

Oxford Nanopore sequencing can detect DNA methylations from ionic current signal of single molecules, offering a unique advantage over conventional methods. Additionally, adaptive sampling, a software-controlled enrichment method for targeted sequencing, allows reduced representation methylation sequencing that can be applied to CpG islands or imprinted regions. Here we present DeepMod2, a comprehensive deep-learning framework for methylation detection using ionic current signal from Nanopore sequencing. DeepMod2 implements both a bidirectional long short-term memory (BiLSTM) model and a Transformer model and can analyze POD5 and FAST5 signal files generated on R9 and R10 flowcells. Additionally, DeepMod2 can run efficiently on central processing unit (CPU) through model pruning and can infer epihaplotypes or haplotype-specific methylation calls from phased reads. We use multiple publicly available and newly generated datasets to evaluate the performance of DeepMod2 under varying scenarios. DeepMod2 has comparable performance to Guppy and Dorado, which are the current state-of-the-art methods from Oxford Nanopore Technologies that remain closed-source. Moreover, we show a high correlation (r = 0.96) between reduced representation and whole-genome Nanopore sequencing. In summary, DeepMod2 is an open-source tool that enables fast and accurate DNA methylation detection from whole-genome or adaptive sequencing data on a diverse range of flowcell types.

Indexed as

Deep LearningNanoporesNanopore SequencingDNA MethylationHigh-Throughput Nucleotide SequencingSequence Analysis, DNA

Identifiers

PMID38365920
PMCPMC10873387

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.