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- Title
RevUP: an online scoring system for regulatory variants implicated in rare diseases.
- Authors
Correard, Solenne; Hewitson, Brittany; van der Lee, Robin; Wasserman, Wyeth W
- Abstract
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.
- Subjects
RARE diseases; INTERNET servers; SOURCE code; PHENOTYPES; BIOINFORMATICS
- Publication
Bioinformatics, 2022, Vol 38, Issue 9, p2664
- ISSN
1367-4803
- Publication type
Article
- DOI
10.1093/bioinformatics/btac157