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_name
Genome Bioljournal_title
Genome biologyauthors
Adamson SI,Zhan L,Graveley BRdoi
10.1186/s13059-018-1437-xsubject
Has Abstractpub_date
2018-06-01 00:00:00pages
71issue
1eissn
1474-7596issn
1474-760Xpii
10.1186/s13059-018-1437-xjournal_volume
19pub_type
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