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Article

REEV: review, evaluate and explain variants.

Nucleic acids research - 5 Jul 2024

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38769069
DOI: 10.1093/nar/gkae366
PMCID: PMC11223839

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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