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bioRxiv · 10.1101/191122

High-Throughput Identification of Genetic Variation Impact on pre-mRNA Splicing Efficiency

Adamson, S. I.·Zhan, L.·Graveley, B. R.
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Abstract

AbstractUnderstanding the functional impact of genomic variants is a major goal of modern genetics and personalized medicine. Although many synonymous and non-coding variants act through altering the efficiency of pre-mRNA splicing, it is difficult to predict how these variants impact pre-mRNA splicing. Here, we describe a massively parallel approach we used to test the impact of 2,059 human genetic variants spanning 110 alternative exons on pre-mRNA splicing. This method yields data that reinforces known mechanisms of pre-mRNA splicing, can rapidly identify genomic variants that impact pre-mRNA splicing, and will be useful for increasing our understanding of genome function.

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Adamson, S. I., Zhan, L., Graveley, B. R.. 2017-09-20. High-Throughput Identification of Genetic Variation Impact on pre-mRNA Splicing Efficiency. https://doi.org/10.1101/191122

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