Application of deep learning and explainable AI-supported medical decision-making for facial phenotyping in genetic syndromes
Ömer Sümer, Tobias Huber, Jiayi Cheng, Dat Duong, Suzanna E. Ledgister Hanchard, Cristina Conati, Elisabeth André, Benjamin D. Solomon, Rebekah L. Waikel
This study evaluates if explainable AI (XAI) improves diagnostic accuracy and confidence in genetic syndrome recognition using facial images, finding mixed results with AI predictions having greater impact than XAI explanations.
Clinical Dysmorphology · Oct 8, 2026Peer-reviewedGenetic & Genomic Medicine