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Article

Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene.

European journal of human genetics : EJHG - 1 Oct 2025

Wenderott Katharina, Krups Jim, Zaruchas Fiona, Krawitz Peter, Weigl Matthias, Lesmann Hellen

Abstract excerpt

The diagnosis of rare genetic disorders often involves prolonged delays, with facial features serving as key diagnostic clues. Next-Generation Phenotyping (NGP) tools, such as Face2Gene, utilize Artificial Intelligence (AI)-driven algorithms to analyze patient photographs and list differential diagnoses based on facial dysmorphism. Despite their growing use and proven clinical value, their integration into...

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PMID: 40410386
DOI: 10.1038/s41431-025-01875-0
PMCID: PMC12480590

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