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Article

Data-driven insights to inform splice-altering variant assessment.

American journal of human genetics - 3 Apr 2025

Sullivan Patricia J, Quinn Julian M W, Ajuyah Pamela, Pinese Mark, Davis Ryan L, Cowley Mark J

Abstract excerpt

Disease-causing genetic variants often disrupt mRNA splicing, an intricate process that is incompletely understood. Thus, accurate inference of which genetic variants will affect splicing and what their functional consequences will be is challenging, particularly for variants outside of the essential splice sites. Here, we describe a set of data-driven heuristics that inform the interpretation of human...

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Identifiers

PMID: 40056912
DOI: 10.1016/j.ajhg.2025.02.012
PMCID: PMC12081236

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