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Article

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.

Journal of medical Internet research - 22 Oct 2020

Pantel Jean Tori, Hajjir Nurulhuda, Danyel Magdalena, Elsner Jonas, Abad-Perez Angela Teresa, Hansen Peter, Mundlos Stefan, Spielmann Malte, Horn Denise, Ott Claus-Eric, Mensah Martin Atta

Abstract excerpt

BACKGROUND: Collectively, an estimated 5% of the population have a genetic disease. Many of them feature characteristics that can be detected by facial phenotyping. Face2Gene CLINIC is an online app for facial phenotyping of patients with genetic syndromes. DeepGestalt, the neural network driving Face2Gene, automatically prioritizes syndrome suggestions based on ordinary patient photographs, potentially improving...

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PMID: 33090109
DOI: 10.2196/19263
PMCID: PMC7644377

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