REEV: review, evaluate and explain variants

In the era of high throughput sequencing, special software is required for the clinical evaluation of genetic variants. We developed REEV (Review, Evaluate and Explain Variants), a user-friendly platform for clinicians and researchers in the field of rare disease genetics. Supporting data was aggreg...

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Published in:Nucleic acids research 2024-05, Vol.52 (W1), p.W148-W158
Main Authors: Hramyka, Dzmitry, Sczakiel, Henrike Lisa, Zhao, Max Xiaohang, Stolpe, Oliver, Nieminen, Mikko, Adam, Ronja, Danyel, Magdalena, Einicke, Lara, Hägerling, René, Knaus, Alexej, Mundlos, Stefan, Schwartzmann, Sarina, Seelow, Dominik, Ehmke, Nadja, Mensah, Martin Atta, Boschann, Felix, Beule, Dieter, Holtgrewe, Manuel
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Language:English
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Summary:In the era of high throughput sequencing, special software is required for the clinical evaluation of genetic variants. We developed REEV (Review, Evaluate and Explain Variants), a user-friendly platform for clinicians and researchers in the field of rare disease genetics. Supporting data was aggregated from public data sources. We compared REEV with seven other tools for clinical variant evaluation. REEV (semi-)automatically fills individual ACMG criteria facilitating variant interpretation. REEV can store disease and phenotype data related to a case to use these for phenotype similarity measures. Users can create public permanent links for individual variants that can be saved as browser bookmarks and shared. REEV may help in the fast diagnostic assessment of genetic variants in a clinical as well as in a research context. REEV (https://reev.bihealth.org/) is free and open to all users and there is no login requirement.
ISSN:0305-1048
1362-4962
1362-4962
DOI:10.1093/nar/gkae366