About RevUP

RevUP was developed to improve clinical interpretation of suspected regulatory genetic variants. While tools already exists for classification of exonic variants based on the ACMG / AMP 2015 guidelines, RevUP focuses on the interpretation of suspected regulatory variants. The tool is comprised of a front end written in React.js and a backend written in Flask. The front end collects data from the user and sends it to the backend to be processed and produce an RVE (regulatory variant evidence) score.

In Van der Lee et al., 2020, a semiquantitative classification scheme was developed to calculate the Regulatory Variant Evidence score (RVE-score), which summarizes the accumulated evidence for a causative role of a regulatory variant in a rare disease. The RVE-score is based on the 22 criteria and RevUP was developed to help the user calculate the score by combining user's input and information available in public databases.

For the list of external databases that RevUP is using and the scoring system associated, refer to Table 1 on our FAQ page.

References

A manuscript describing RevUP is under review. In the meantime, if you used this website to score a variant, please cite:

van der Lee R, Correard S, Wasserman WW. Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes. Trends Genet. 2020 Jul;36(7):523-539. doi: 10.1016/j.tig.2020.04.006. Epub 2020 May 22. PMID: 32451166.