Article

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

2017-09-20

Abstract excerpt

<h4> Abstract </h4> Understanding 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...

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Literature Corpus work: 984f4f4d-2b97-55f4-8389-cd72cc3f7fe2
DOI: 10.1101/191122

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