Evidence map›Paper›PMID 41827018›Full record

ArticleHuman genomics2026

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1.

Pauline Planté-Bordeneuve, Anne-Sophie Jourdain, Caroline Thuillier, Aurélien Caux, Marine Tessarech, Jean-Pascal Meneboo, Emilie Ait-Yahya, Sara Costantini, Perrine Brunelle, Thomas Smol

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Article in Human genomics, 2026. 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. Review
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.

Pauline Planté-BordeneuveUniv. Lille, ULR7364 RADEME, FHU-G4 Génomique, Lille, F-59000, France.
Anne-Sophie JourdainUniv. Lille, ULR7364 RADEME, FHU-G4 Génomique, Lille, F-59000, France.
Caroline ThuillierCHU Lille, Institut de Génétique Médicale, F-59000, Lille, France.
Aurélien CauxCHU Lille, Institut de Génétique Médicale, F-59000, Lille, France.
Marine TessarechUniv. Lille, ULR7364 RADEME, FHU-G4 Génomique, Lille, F-59000, France.
Jean-Pascal MenebooUniv. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, US 41-UAR 2014-PLBS, Lille, France.
Emilie Ait-YahyaCellule de Bioinformatique, CHU Lille, Plateau Commun de Séquençage, CHU Lille, Lille, F-59000, France.
Sara CostantiniCHU Lille, Clinique de Génétique, Lille, F-59000, France.
Perrine BrunelleUniv. Lille, ULR7364 RADEME, FHU-G4 Génomique, Lille, F-59000, France.
Thomas SmolUniv. Lille, ULR7364 RADEME, FHU-G4 Génomique, Lille, F-59000, France. thomas.smol@chu-lille.fr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome sequencing (GS) often reveals non-coding variants of uncertain significance, especially those predicted to affect pre-mRNA splicing. We present an integrative workflow combining splice prediction, a minigene assay and long-read RNA sequencing to assess their functional impact. Applied to a de novo heterozygous 17-bp intronic deletion in FOXP1 from a child with a neurodevelopmental disorder, this approach showed impaired exon recognition and multiple aberrant transcript isoforms, supporting a loss-of-function mechanism consistent with FOXP1 haploinsufficiency. Our results illustrate how experimental and isoform-resolved transcriptomic analyses can refine the interpretation of non-coding splice-altering variants detected by GS in clinical genomics.

Indexed as

Forkhead Transcription FactorsGenomicsNeurodevelopmental DisordersRepressor ProteinsRNA SplicingTranscriptomeHaploinsufficiencyHumansIntronsWorkflowForkhead Transcription FactorsFOXP1 protein, humanRepressor ProteinsFOXP1Genome diagnosticsLong‑read RNA sequencingMinigene assayNon‑coding variantsRNA splicing

Identifiers

PMID41827018
PMCPMC13101360

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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.