biostudies-literatureAdamson SINHGRI NIH HHSNational Human Genome Research Institute71https://www.ebi.ac.uk/biostudies/studies/S-EPMC5984807biostudies-literatureUnknown19(1)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.Genome biologyVex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency.PMC5984807R21HG008799R21 HG008799Adamson SIGraveley BRZhan LfalseVex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency.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.2018-01-01T00:00:00Z2018 Jun2026-04-29T22:09:48.476Z2019-03-26T23:40:25ZS-EPMC59848072985912010.1186/s13059-018-1437-x