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 variants spanning 110 alternative exons. This method, called variant exon sequencing (Vex-seq), yields data that reinforce known mechanisms of pre-mRNA splicing, identifies variants that impact pre-mRNA splicing, and will be useful for increasing our understanding of genome function.
CITATION STYLE
Adamson, S. I., Zhan, L., & Graveley, B. R. (2018). Vex-seq: High-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency. Genome Biology, 19(1). https://doi.org/10.1186/s13059-018-1437-x
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