Evidence map›Paper›PMID 40973179›Full record

ArticleBioinformatics (Oxford, England)2025

Decipher RNA isoform combinations from minigene splicing assays and massive parallel sequencing with MAGIC.

Camille Aucouturier, Nicolas Goardon, Laurent Castéra, Alexandre Atkinson, Thibaut Lavolé, Angélina Legros, Agathe Ricou, Flavie Boulouard, Sophie Krieger, Raphaël Leman

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

10 authors.

Camille AucouturierLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.ORCID 0009-0006-3929-1513
Nicolas GoardonLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.
Laurent CastéraLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.
Alexandre AtkinsonLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.
Thibaut LavoléLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.
Angélina LegrosLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.
Agathe RicouLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.
Flavie BoulouardLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.
Sophie KriegerLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.
Raphaël LemanLaboratoire de biologie et de génétique du cancer, Département de Biopathologie, Centre François Baclesse, Caen 14000, France.

Funding

Federation Hospitalo-Universitaire FHU G4 Genomics Caen-Rouen-Lille-Amiens
6 · The paper itself

Abstract

summaryFunctional testing of RNA using minigene splicing assays is increasingly being realized to demonstrate the effects of variants on splicing. In complex cases, variant pathogenicity is assessed by Sanger sequencing, which can be time consuming and may be replaced by short read sequencing. Moreover, strategies based on long read sequencing of the amplified minigene construct are promising and allow the isoforms to be fully characterized. We introduce MAGIC, a user-friendly tool that first generates the artificial construction genome files required to then perform alignment, assembly and annotation of the isoforms obtained by either short or long read minigene splicing assay sequencing. AVAILABILITY AND IMPLEMENTATION: MAGIC is available at https://github.com/LBGC-CFB/MAGIC. Zenodo DOI: 10.5281/zenodo.17052752.

Indexed as

High-Throughput Nucleotide SequencingRNA IsoformsRNA SplicingSequence Analysis, RNASoftwareHumansRNA Isoforms

Identifiers

PMID40973179
PMCPMC12479391

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.