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Article

SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.

Gene - 30 Jan 2023

Alimohamed Mohamed Z, Boven Ludolf G, van Dijk Krista K, Vos Yvonne J, Hoedemaekers Yvonne M, van der Zwaag Paul A, Sijmons Rolf H, Jongbloed Jan D H, Sikkema-Raddatz Birgit, Westers Helga

Abstract excerpt

BACKGROUND: Splice prediction algorithms currently used in routine DNA diagnostics have limited sensitivity and specificity, therefore many potential splice variants are classified as variants of uncertain significance (VUSs). However, functional assessment of VUSs to test splicing is labour-intensive and time-consuming. We developed a decision tree to prioritise potential splice variants for functional studies...

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PMID: 36270459
DOI: 10.1016/j.gene.2022.146984

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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