Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases.

ABSTRACT:

Background

Analysis of variants in distant regulatory elements could improve the current 25-50% yield of genetic testing for monogenic diseases. However, the vast size of the regulome, great number of variants, and the difficulty in predicting their phenotypic impact make searching for pathogenic variants in the regulatory genome challenging. New tools for the identification of regulatory variants based on their relevance to the phenotype are needed.

Methods

We used tissue-specific regulatory loci mapped by ENCODE and FANTOM, together with miRNA-gene interactions from miRTarBase and miRWalk, to develop Remus, a web application for the identification of tissue-specific regulatory regions. Remus searches for regulatory features linked to the known disease-associated gen

SUBMITTER: Sztromwasser P 

PROVIDER: S-EPMC7978111 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature