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 spli...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-06-01
|
| Series: | Genome Biology |
| Online Access: | http://link.springer.com/article/10.1186/s13059-018-1437-x |
| _version_ | 1819078217092300800 |
|---|---|
| author | Scott I. Adamson Lijun Zhan Brenton R. Graveley |
| author_facet | Scott I. Adamson Lijun Zhan Brenton R. Graveley |
| author_sort | Scott I. Adamson |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T19:09:35Z |
| format | Article |
| id | doaj.art-d1954531613248d480f124919a3bcd46 |
| institution | Directory Open Access Journal |
| issn | 1474-760X |
| language | English |
| last_indexed | 2024-12-21T19:09:35Z |
| publishDate | 2018-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Genome Biology |
| spelling | doaj.art-d1954531613248d480f124919a3bcd462022-12-21T18:53:14ZengBMCGenome Biology1474-760X2018-06-0119111210.1186/s13059-018-1437-xVex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiencyScott I. Adamson0Lijun Zhan1Brenton R. Graveley2Department of Genetics and Genome Sciences, Institute for Systems Genomics, UConn HealthDepartment of Genetics and Genome Sciences, Institute for Systems Genomics, UConn HealthDepartment of Genetics and Genome Sciences, Institute for Systems Genomics, UConn HealthAbstract 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.http://link.springer.com/article/10.1186/s13059-018-1437-x |
| spellingShingle | Scott I. Adamson Lijun Zhan Brenton R. Graveley Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency Genome Biology |
| title | Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency |
| title_full | Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency |
| title_fullStr | Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency |
| title_full_unstemmed | Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency |
| title_short | Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency |
| title_sort | vex seq high throughput identification of the impact of genetic variation on pre mrna splicing efficiency |
| url | http://link.springer.com/article/10.1186/s13059-018-1437-x |
| work_keys_str_mv | AT scottiadamson vexseqhighthroughputidentificationoftheimpactofgeneticvariationonpremrnasplicingefficiency AT lijunzhan vexseqhighthroughputidentificationoftheimpactofgeneticvariationonpremrnasplicingefficiency AT brentonrgraveley vexseqhighthroughputidentificationoftheimpactofgeneticvariationonpremrnasplicingefficiency |