| Title: |
REEV: review, evaluate and explain variants |
| 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 |
| Contributors: |
Prof. Duska Dragun; Charité—Universitätsmedizin Berlin; Berlin Institute of Health; Alliance4Rare; BIH; German national omics data infrastructure NFDI-GHGA; Charite University Medicine Library |
| Source: |
Nucleic Acids Research ; volume 52, issue W1, page W148-W158 ; ISSN 0305-1048 1362-4962 |
| Publisher Information: |
Oxford University Press (OUP) |
| Publication Year: |
2024 |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1093/nar/gkae366 |
| Availability: |
https://doi.org/10.1093/nar/gkae366; https://academic.oup.com/nar/article-pdf/52/W1/W148/58436096/gkae366.pdf |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.DDBAEC4E |
| Database: |
BASE |