REEV: review, evaluate and explain variants

Dzmitry Hramyka; Henrike Lisa Sczakiel; Max Xiaohang Zhao; Oliver Stolpe; Mikko Nieminen; Ronja Adam; Magdalena Danyel; Lara Einicke; René Hägerling; Alexej Knaus; Stefan Mundlos; Sarina Schwartzmann; Dominik Seelow; Nadja Ehmke; Martin Atta Mensah; Felix Boschann; Dieter Beule; Manuel Holtgrewe

doi:10.1093/nar/gkae366

REEV: review, evaluate and explain variants

Nucleic Acids Res. 2024 May 20:gkae366. doi: 10.1093/nar/gkae366. Online ahead of print.

Authors

Dzmitry Hramyka¹, Henrike Lisa Sczakiel^{2

3

4}, Max Xiaohang Zhao^{1

2

5}, Oliver Stolpe¹, Mikko Nieminen¹, Ronja Adam^{2

5}, Magdalena Danyel^{2

3}, Lara Einicke^{2

5}, René Hägerling^{2

3

4

6}, Alexej Knaus⁷, Stefan Mundlos^{2

4}, Sarina Schwartzmann², Dominik Seelow^{2

5}, Nadja Ehmke^{2

5}, Martin Atta Mensah^{2

8}, Felix Boschann^{2

3

5}, Dieter Beule^{1

9}, Manuel Holtgrewe¹

Affiliations

¹ Berlin Institute of Health, Core Unit Bioinformatics, Berlin, Germany.
² Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
³ BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁴ RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
⁵ Berlin Institute of Health, Berlin, Germany.
⁶ Berlin Institute of Health , BIH Center for Regenerative Therapies, Berlin, Germany.
⁷ Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Germany.
⁸ BIH Biomedical Innovation Academy, Digital Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁹ Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.

PMID: 38769069
DOI: 10.1093/nar/gkae366

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.

Abstract

Grants and funding