massively-parallel-splicing-assay-to-examine-splicing-errors-caused

Massively Parallel Splicing Assay to Examine Splicing Errors Caused by Disease-Related Intronic Variants

Splicing errors represent 10-30% of the pathogenic mutations responsible for rare genetic disorders. RNA splicing ensures proper gene expression by ...

Academia Sinica

Academia Sinica and National Taiwan University

Splicing variants are a major class of pathogenic mutations, with their severity equivalent to nonsense mutations. However, redundant and degenerate splicing signals hinder functional assessments of sequence variations within introns, particularly at branch sites. We have established a massively parallel splicing assay to assess the impact on splicing of 11,191 disease-relevant variants. Based on the experimental results, we then applied regression-based methods to identify factors determining splicing decisions and their respective weights.

Ang-Chu Huang

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JoVE Journal Publications

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