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CRISPR activation to characterize splice-altering variants in easily accessible cells

24 Jan 2024

Abstract excerpt

Genetic variants that affect mRNA splicing are a major cause of hereditary disorders, but the spliceogenicity of variants is challenging to predict. RNA diagnostics of clinically accessible tissues enable rapid functional characterization of splice-altering variants within their natural genetic context. However, this analysis cannot be offered to all individuals as one in five human disease genes are not...

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PMID: 38272032
DOI: 10.1016/j.ajhg.2023.12.024

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