Vex-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. Her...

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Bibliographic Details
Published inGenome Biology Vol. 19; no. 1; p. 71
Main Authors Adamson, Scott I, Zhan, Lijun, Graveley, Brenton R
Format Journal Article
LanguageEnglish
Published England BioMed Central 01.06.2018
BMC
Subjects
Alternative Splicing
Bioinformatics
Efficiency
Exons
Genetic diversity
Genetic Variation
Genomes
High-Throughput Nucleotide Sequencing - methods
Humans
Introns
Method
mRNA
Plasmids
Precision medicine
RNA Precursors - metabolism
RNA Splice Sites
RNA, Messenger - metabolism
Sequence Analysis, RNA - methods
Splicing
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Summary: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.
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ISSN:1474-760X
1474-7596
1474-760X
DOI:10.1186/s13059-018-1437-x