Article

Protocol for designing and interpreting minigene assays to validate candidate splice altering variants

2026-05-08

Abstract excerpt

<h4>Summary</h4> Variants affecting RNA splicing are a major contributor to human disease, yet the consequences of variants outside of the canonical splice motifs are often difficult to determine. Here, we present a protocol for minigene-based evaluation of candidate splice-altering variants. The methodology described includes locus-specific insert design, commercial gene fragment synthesis, and long-read sequenc...

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Literature Corpus work: 1f8e8970-843e-5a10-9e50-47649e72bb59
DOI: 10.64898/2026.05.05.723105

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