Search Results for "effect"

To generate correct mature mRNAs, the exons must be identified and joined together precisely and efficiently by RNA splicing mechanism. It is to be noted that about one third or a half of all disease-causing mutations effect RNA splicing. However, there is little bioinformatics tools to directly identify sequence variants associated with splicing events (SVASE) based on RNA-seq data. We developed ISVASE, a simple and convenient tool for identifying SVASE directly using RNA-seq data. Comparing with the existing software PVAAS, our method has several advantages such as stringent rule-depended filters and statistical filters in each step, detection sequence variants for known splicing events, identification sequence variants in two parts of splicing (junction) separately, detection junction shift events if providing known splicing annotation, evaluating splicing signal, comparing with known DNA mutation and/or RNA editing data, and short running time.

The package provides SVM models to be used with SVMlight (http://svmlight.joachims.org/) for drawing a consensus out of individual 3rd-party predictions about the effect of mutations. The 3rd party tools are SIFT, Polyphen2, SNPs&GO and Mutation Assessor. The package also provides a series of Perl modules and scripts to assist in the preparation of data. The modules can be used to build custom tools and pipelines, whereas the scripts provide basic executable implementations based on the modules. ...