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| Item Type: | Article |
|---|---|
| Title: | REEV: review, evaluate and explain variants |
| Creators Name: | Hramyka, D., Sczakiel, H.L., Zhao, M.X., Stolpe, O., Nieminen, M., Adam, R., Danyel, M., Einicke, L., Hägerling, R., Knaus, A., Mundlos, S., Schwartzmann, S., Seelow, D., Ehmke, N., Mensah, M.A., Boschann, F., Beule, D. and Holtgrewe, M. |
| Abstract: | 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. |
| Keywords: | Genetic Databases, Genetic Variation, High-Throughput Nucleotide Sequencing, Phenotype, Rare Diseases, Software |
| Source: | Nucleic Acids Research |
| ISSN: | 0305-1048 |
| Publisher: | Oxford University Press |
| Volume: | 52 |
| Number: | W1 |
| Page Range: | W148-W158 |
| Date: | 5 July 2024 |
| Official Publication: | https://doi.org/10.1093/nar/gkae366 |
| PubMed: | View item in PubMed |
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