Determining Biological Significance Of Putative Exons Through The Application Of Annotation-Agnostic Methods To Measure Potential Hallmarks Of Functionality

Abstract

The aim of this study is to infer the potential for biological function of putative exons which arise from repetitive element (REL) exonization events in human brain tissues. The data pipeline in this project utilizes existing annotation-agnostic methods and public RNA-seq data consortiums to determine the exact boundaries and levels of expression of these putative exons which may be unrepresented in current gene annotations. Biological function of putative exons is assessed by examining splicing events which could give rise to novel transcripts that contain these putative exons. These splicing events are assessed in regard to overall expression, prevalence across samples, and tissue specificity. Documentation and source code is available at: https://github.com/biancabifx/PutativeExonFunctionPipeline.