Evidence map›Paper›PMID 37409354›Full record

ArticleEpigenetics2023

Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package.

Carlos Ruiz-Arenas, Leire Abarrategui, Carles Hernandez-Ferrer, Xavier Escribà-Montagut, Dolors Pelegrí-Sisó, Patricia Ryser-Welch, Martine Vrijheid, Mariona Bustamante, Regina Grazuleviciene, Johanna Lepeule and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Epigenetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Carlos Ruiz-ArenasCentro de Investigación Biomédica En Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
Leire AbarrateguiBarcelona Institute for Global Health (ISGlobal), Barcelona, Spain.
Carles Hernandez-FerrerCentro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona, Spain.
Xavier Escribà-MontagutBarcelona Institute for Global Health (ISGlobal), Barcelona, Spain.
Dolors Pelegrí-SisóBarcelona Institute for Global Health (ISGlobal), Barcelona, Spain.
Patricia Ryser-WelchFaculty of Medical Sciences, Newcastle University, Newcastle-Upon-Tyne, UK.
Martine VrijheidDepartment of Medicine and Life Sciences (MELIS), Universitat Pompeu Fabra (UPF), Barcelona, Spain.
Mariona BustamanteDepartment of Medicine and Life Sciences (MELIS), Universitat Pompeu Fabra (UPF), Barcelona, Spain.
Regina GrazulevicieneDepartment of Environmental Science, Vytautas Magnus University, Kaunas, Lithuania.
Johanna LepeuleInserm, CNRS, Team of Environmental Epidemiology Applied to Development and Respiratory Health, Institute for Advanced Biosciences, University Grenoble Alpes, Grenoble, France.
Mathew MathaiBradford Institute of Health Research, Bradford Teaching Hospitals NHS Foundation Trust, West Yorkshire, UK.
Marina VafeiadiDepartment of Social Medicine, Faculty of Medicine, University of Crete, Heraklion, Crete, Greece.
Sergi BeltranCentro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona, Spain.
Luis A Pérez-JuradoCentro de Investigación Biomédica En Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
Juan R GonzálezBarcelona Institute for Global Health (ISGlobal), Barcelona, Spain.ORCID 0000-0003-3267-2146

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epimutations are rare alterations of the normal DNA methylation pattern at specific loci, which can lead to rare diseases. Methylation microarrays enable genome-wide epimutation detection, but technical limitations prevent their use in clinical settings: methods applied to rare diseases' data cannot be easily incorporated to standard analyses pipelines, while epimutation methods implemented in R packages (

Indexed as

DNA MethylationSoftwareChildGenomeHumansRare DiseasesbioinformaticsepidemiologyEpigeneticsrare disease

Identifiers

PMID37409354
PMCPMC10327521

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

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.