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

Abstract

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

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

Related Feeds

BioRxiv & MedRxiv Preprints

BioRxiv and MedRxiv are the preprint servers for biology and health sciences respectively, operated by Cold Spring Harbor Laboratory. Here are the latest preprint articles (which are not peer-reviewed) from BioRxiv and MedRxiv.

© 2021 Meta ULC. All rights reserved