RevUP: An online scoring system for regulatory variants implicated in rare diseases
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Oxford University Press
2022
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| Online Access: | View Fulltext in Publisher |
| 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. © 2022 The Author(s). Published by Oxford University Press. |
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| ISBN: | 13674803 (ISSN) |
| DOI: | 10.1093/bioinformatics/btac157 |