Article

One-Size-Fits-Many: Antisense oligonucleotides for rescuing splicing mutations in hotspot exons

2024-12-08

Abstract excerpt

<h4>ABSTRACT</h4> Mutations that impact splicing play a significant role in disease etiology but are not fully understood. To characterize the impact of exonic variants on splicing in 71 clinically-actionable disease genes in asymptomatic people, we analyzed 32,112 exonic mutations from ClinVar and Geisinger MyCode using a minigene reporter assay. We identify 1,733 splice-disrupting mutations, of which the most e...

Topics

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

Identifiers and source

Literature Corpus work: 3a66b5bb-047e-54eb-83fc-aab115d5a1f3
DOI: 10.1101/2024.12.07.627366

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

One-Size-Fits-Many: Antisense oligonucleotides for rescuing splicing mutations in hotspot exonsDOI 10.1101/2024.12.07.627366Read

Evaluating Human Mutation Databases for ‘Treatability’ Using Personalized Antisense OligonucleotidesSemantic proximity Read

Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based TreatmentsSemantic proximity Read

Evaluating human mutation databases for "treatability" using patient-customized therapy.Semantic proximity Read

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.Semantic proximity Read

Making antisense of splicing.Semantic proximity Read

Protocol for designing and interpreting minigene assays to validate candidate splice altering variantsSemantic proximity Read

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatmentsSemantic proximity Read

Hotspot exons are common targets of splicing perturbations.Semantic proximity Read

A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseasesSemantic proximity Read

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.Semantic proximity Read

From Genomic Diagnosis to Personalized RNA Medicine: Advances in Next-Generation Sequencing and N-of-1 Antisense Oligonucleotide Therapies for Rare Genetic DiseasesSemantic proximity Read

Mutations in spliceosome genes and therapeutic opportunities in myeloid malignanciesSemantic proximity Read