Article

Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicing

2026-03-06

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Whole-genome sequencing (WGS) has improved the diagnosis of rare genetic disorders, yet interpretation of non-coding variants that affect splicing remains challenging. In silico predictions alone are insufficient, and short-read RNA sequencing may fail to capture complex or low-abundance splicing events. Targeted amplicon-based long-read RNA sequencing (Amp-LRS) offers a co...

Topics

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

Identifiers and source

Literature Corpus work: 56682917-c001-50e3-86b6-ac461af921c5
DOI: 10.64898/2026.03.02.26346984

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicingDOI 10.64898/2026.03.02.26346984Read

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variantsSemantic proximity Read

RAPID: A Targeted Long-Read RNA Workflow for Functional Resolution of Splicing Variants in Rare DiseaseSemantic proximity Read

RNA sequencing resolves cryptic pathogenic variants in mitochondrial diseaseSemantic proximity Read

RNA-seq analysis, targeted long-read sequencing, and in silico prediction to unravel pathogenic intronic events and predict the regulatory mechanisms underlying complex splicing abnormalities in patients with dystrophinopathySemantic proximity Read

Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease triosSemantic proximity Read

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohortSemantic proximity Read

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAsSemantic proximity Read

Next generation sequencing for molecular diagnosis of neuromuscular diseasesSemantic proximity Read

Comparative RNAseq analysis for the study of motoneuron diseases in multi-omics approachesSemantic proximity Read

Long-read proteogenomic atlas of human neuronal differentiation reveals isoform diversity informing neurodevelopmental risk mechanismsSemantic proximity Read

Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysisSemantic proximity Read

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.Semantic proximity Read