{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Adamson SI"],"funding":["NHGRI NIH HHS","National Human Genome Research Institute"],"pagination":["71"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5984807"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(1)"],"pubmed_abstract":["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."],"journal":["Genome biology"],"pubmed_title":["Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency."],"pmcid":["PMC5984807"],"funding_grant_id":["R21HG008799","R21 HG008799"],"pubmed_authors":["Adamson SI","Graveley BR","Zhan L"],"additional_accession":[]},"is_claimable":false,"name":"Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency.","description":"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.","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Jun","modification":"2026-04-29T22:09:48.476Z","creation":"2019-03-26T23:40:25Z"},"accession":"S-EPMC5984807","cross_references":{"pubmed":["29859120"],"doi":["10.1186/s13059-018-1437-x"]}}