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Updated: Sep 30, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
RevUP: an online scoring system for regulatory variants implicated in rare diseases
Solenne Correard1, Brittany Hewitson1, Robin van der Lee1
1Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
Summary:
To address the difficulty in assessing the implication of regulatory variants in diseases, a scoring scheme previously published 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. 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 And Implementation:
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.
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