Article

Deep indel mutagenesis reveals the regulatory and modulatory architecture of alternative exon splicing

2024-04-23

Abstract excerpt

Altered splicing is a frequent mechanism by which genetic variants cause disease and antisense oligonucleotides (AONs) that target pre-mRNA splicing have been approved as therapeutics for multiple pathologies including patient-customized treatments for rare diseases. However, the regulatory architecture of human exons remains poorly understood and AON discovery is currently slow and expensive, limiting the wider a...

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Identifiers and source

Literature Corpus work: 779b10db-6782-5444-87a3-ec6486959c97
DOI: 10.1101/2024.04.21.590414

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