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

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

Published in: Journal of medical Internet research (2020)

DeepGestalt fairly separates images of individuals with and without a genetic syndrome. This separation can be significantly improved by SVMs running on top of DeepGestalt, thus supporting the diagnostic process of patients with a genetic syndrome. Our findings facilitate the critical interpretation of DeepGestalt's results and may help enhance it and similar computer-aided facial phenotyping tools.

Keyphrases

genome wide
case report
high throughput
copy number
deep learning
soft tissue
mass spectrometry
dna methylation
convolutional neural network
liquid chromatography