Evidence map›Paper›PMID 40155770›Full record

ReviewNature reviews. Genetics2025

Computational analysis of DNA methylation from long-read sequencing.

Yilei Fu, Winston Timp, Fritz J Sedlazeck

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 1 pooled it
–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

33 citing papers in PubMed, 1 synthesis or guideline pooled it.

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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

3 authors.

Yilei FuHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-7721-7027
Winston Timp *Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-2083-6027
Fritz J Sedlazeck *Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.ORCID http://orcid.org/0000-0001-6040-2691

Funding

Comprehensive Somatic Variant Characterization at the HGSCUM1DA058229 · NIDA · BAYLOR COLLEGE OF MEDICINE · PI Harsha Vardhan Doddapaneni, RICHARD A GIBBS · 2023 to 2026
$15.0M
Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8M
Nanopore based profiling of epigenetic stateR01HG009190 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI TIMP, WINSTON GEORGE · 2017 to 2024
$4.8M
Identification of somatic/ mosaic SV and transposon activity and their crosstalk to DNA epigenetic ModificationsUH3NS132105 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI Fritz J Sedlazeck, Tao Wu · 2025 to 2026
$994k
Identification of somatic/ mosaic SV and transposon activity and their crosstalk to DNA epigenetic ModificationsUG3NS132105 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI SEDLAZECK, FRITZ J, WU, TAO · 2023 to 2024
$580k
NHGRI NIH HHS R01 HG009190NHGRI NIH HHS U01 HG011758NIDA NIH HHS UM1 DA058229NINDS NIH HHS UG3 NS132105NINDS NIH HHS UH3 NS132105
6 · The paper itself

Abstract

DNA methylation is a critical epigenetic mechanism in numerous biological processes, including gene regulation, development, ageing and the onset of various diseases such as cancer. Studies of methylation are increasingly using single-molecule long-read sequencing technologies to simultaneously measure epigenetic states such as DNA methylation with genomic variation. These long-read data sets have spurred the continuous development of advanced computational methods to gain insights into the roles of methylation in regulating chromatin structure and gene regulation. In this Review, we discuss the computational methods for calling methylation signals, contrasting methylation between samples, analysing cell-type diversity and gaining additional genomic insights, and then further discuss the challenges and future perspectives of tool development for DNA methylation research.

Indexed as

Computational BiologyDNA MethylationEpigenesis, GeneticSequence Analysis, DNAAnimalsChromatinEpigenomicsHigh-Throughput Nucleotide SequencingHumansChromatin

Identifiers

PMID40155770
PMCPMC12882999

What OpenQuestion holds

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Registered trials

None linked

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.