DOI: 10.1101/474072Nov 19, 2018Paper

RADAR: annotation and prioritization of variants in the post-transcriptional regulome of RNA-binding proteins

BioRxiv : the Preprint Server for Biology
Jing ZhangMark Gerstein


RNA-binding proteins (RBPs) play key roles in post-transcriptional regulation and disease. Their binding sites cover more of the genome than coding exons; nevertheless, most noncoding variant-prioritization methods only focus on transcriptional regulation. Here, we integrate the portfolio of ENCODE-RBP experiments to develop RADAR, a variant-scoring framework. RADAR uses conservation, RNA structure, network centrality, and motifs to provide an overall impact score. Then it further incorporates tissue-specific inputs to highlight disease-specific variants. Our results demonstrate RADAR can successfully pinpoint variants, both somatic and germline, associated with RBP-function dysregulation, that cannot be found by most current prioritization methods, for example variants affecting splicing.

Related Concepts

RNA Splicing
Transcription, Genetic
RNA-Binding Proteins
Gene Function
Research Study
Transcriptional Regulation
Binding (Molecular Function)

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