학술논문
RevUP: an online scoring system for regulatory variants implicated in rare diseases.
Document Type
Article
Source
Subject
*RARE diseases
*INTERNET servers
*SOURCE code
*PHENOTYPES
*BIOINFORMATICS
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Language
ISSN
1367-4803
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. [ABSTRACT FROM AUTHOR]