Publication

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

P. Sztromwasser, D. Skrzypczak, A. Michalak and W. Fendler

Published
March 5, 2021
journal
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.

Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases
June 22, 2022