Article

Integrated detection and quantification of aberrant transcripts with novel splicing events

2025-02-07

Abstract excerpt

Splicing misregulation, such as the inclusion of previously unknown cryptic exons, is implicated in numerous diseases. Recent methods have increased accurate and efficient detection of such splicing alterations occurring in disease phenotypes. However, the quantification and differential analyses of non-canonical splicing alterations remains focused at a splice event level, thus preventing a complete view of the e...

Topics

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

Identifiers and source

Literature Corpus work: 6e41984d-7cb5-5f37-acb6-d79b95c97e8b
DOI: 10.1101/2025.02.02.635191

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Integrated detection and quantification of aberrant transcripts with novel splicing eventsDOI 10.1101/2025.02.02.635191Read

Long-read RNA sequencing unveils a novel cryptic exon in MNAT1 along with its full-length transcript structure in TDP-43 proteinopathySemantic proximity Read

Quantitative analysis of cryptic splicing associated with TDP-43 depletionSemantic proximity Read

TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTDSemantic proximity Read

Integrative multiomic analysis links TDP-43-driven splicing defects to cascading proteomic disruption of ALS/FTD pathwaysSemantic proximity Read

Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicingSemantic proximity Read

Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration modelsSemantic proximity Read

The era of cryptic exons: implications for ALS-FTDSemantic proximity Read

TDP-43 dysfunction leads to the accumulation of cryptic transposable element-derived exons, crypTEs, in iPSC derived neurons and ALS/FTD patient tissuesSemantic proximity Read

Sensitivity to TDP-43 loss and degradation resistance determine cryptic exon biomarker potentialSemantic proximity Read

Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer’s diseaseSemantic proximity Read

Spliformer-V2 enables multi-tissue prediction and interpretation of splice-altering genetic variantsSemantic proximity Read

Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTDSemantic proximity Read