Article

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

2026-01-02

Abstract excerpt

<h4>Background</h4> Molecular diagnosis of rare disease plateaus at ∼50%, partly due to technical limitations of short-read sequencing and the persistent challenge of interpreting variants of uncertain significance (VUS). Splice-altering variation represents a major source of unresolved cases, yet functional assessment remains difficult in routine practice. <h4>Methods</h4> We developed a fully modular, sample-t...

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Literature Corpus work: 216ca2ff-a4c6-5870-a0ad-2b75b9d33f6a
DOI: 10.64898/2025.12.30.25342835

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