RevUP: an online scoring system for regulatory variants implicated in rare diseases.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 35289834.
- Also identified by DOI 10.1093/bioinformatics/btac157 and PMC identifier 9048665.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
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. RevUP is freely available at http://www.revup-classifier.ca. The source code is available at https://github.com/wassermanlab/revup. Supplementary data are available at Bioinformatics online.
Medical subject headings
- Rare Diseases
- Software