Article

SpliceDecoder: A High-Throughput Tool for Guiding the Functional Interpretation of Differential Splicing Events

2025-10-03

Abstract excerpt

Alternative splicing generates different mRNA isoforms from single genes, generating protein diversity essential for normal development and tissue function. Dysregulation of splicing is implicated in numerous diseases, including cancer, neurodegeneration, diabetes, and rare genetic disorders. Although thousands of spliced isoforms have been identified in disease-relevant contexts, the functional significance of mo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ac3c568f-79f9-5432-9e43-3325c407f9b0
DOI: 10.1101/2025.10.01.679902

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

SpliceDecoder: A High-Throughput Tool for Guiding the Functional Interpretation of Differential Splicing EventsDOI 10.1101/2025.10.01.679902Read

Detection of alternative splicing: deep sequencing or deep learning?Semantic proximity Read

<i>SpliceImpactR</i> maps alternative RNA processing events driving protein functional diversitySemantic proximity Read

Mechanism and modeling of human disease-associated near-exon intronic variants that perturb RNA splicing.Semantic proximity Read

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.Semantic proximity Read

Selecting differential splicing methods: Practical considerationsSemantic proximity Read

An algorithmic framework for isoform-specific functional analysisSemantic proximity Read

Selecting differential splicing methods: Practical considerations for short-read RNA sequencingSemantic proximity Read

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.Semantic proximity Read

Detection of pathogenic splicing events from RNA-sequencing data using dasperSemantic proximity Read

<i>CRYPTID-exon</i> : streamlined detection of cryptic exons from RNA-seq dataSemantic proximity Read

LeafCutter: annotation-free quantification of RNA splicingSemantic proximity Read

Aberrant splicing prediction across human tissuesSemantic proximity Read