Article
Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency.
Genome biology - 1 Jun 2018
Adamson Scott I, Zhan Lijun, Graveley Brenton R
Abstract excerpt
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 use to test the impact on pre-mRNA splicing of 2059 human genetic...
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