RevUP: an online scoring system for regulatory variants implicated in rare diseases

Abstract

Summary To address the difficulty in assessing the implication of regulatory variants in diseases, a scoring scheme published by Van der Lee et al., 2020 allows the calculation of the Regulatory Variant Evidence score (RVE-score). The score represents the accumulated evidence for a causative role of a regulatory variant in a disease. RevUP (Regulatory Evidence for Variants Underlying Phenotypes) was built to calculate the RVE-score of regulatory variants, based on the 24 criteria, with a hybrid approach combining information retrieved from public databases and user input. Availability RevUP is freely available at http://www.revup-classifier.ca. The source code is available at https://github.com/wassermanlab/revup. Supplementary information Supplementary data are available at Bioinformatics online.