Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency.

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 Biol

journal_title

Genome biology

authors

Adamson SI,Zhan L,Graveley BR

doi

10.1186/s13059-018-1437-x

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

71

issue

1

eissn

1474-7596

issn

1474-760X

pii

10.1186/s13059-018-1437-x

journal_volume

19

pub_type

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