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REEV: review, evaluate and explain variants.

Dzmitry HramykaHenrike Lisa SczakielMax Xiaohang ZhaoOliver StolpeMikko NieminenRonja AdamMagdalena DanyelLara EinickeRené HägerlingAlexej KnausStefan MundlosSarina SchwartzmannDominik SeelowNadja EhmkeMartin Atta MensahFelix BoschannDieter BeuleManuel Holtgrewe
Published in: Nucleic acids research (2024)
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.
Keyphrases
  • electronic health record
  • copy number
  • healthcare
  • big data
  • mental health
  • high throughput sequencing
  • data analysis
  • machine learning
  • minimally invasive
  • drinking water
  • deep learning
  • artificial intelligence