ISVASE: identification of sequence variant associated with splicing event using RNA-seq data.

ABSTRACT:

Background

Exon recognition and splicing precisely and efficiently by spliceosome is the key to generate mature mRNAs. About one third or a half of disease-related mutations affect RNA splicing. Software PVAAS has been developed to identify variants associated with aberrant splicing by directly using RNA-seq data. However, it bases on the assumption that annotated splicing site is normal splicing, which is not true in fact.

Results

We develop the ISVASE, a tool for specifically identifying sequence variants associated with splicing events (SVASE) by using RNA-seq data. Comparing with PVAAS, our tool has several advantages, such as multi-pass stringent rule-dependent filters and statistical filters, only using split-reads, independent sequence variant identification in each p

SUBMITTER: Aljohi HA 

PROVIDER: S-EPMC5490186 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature