Article

Application of deep learning and explainable AI-supported medical decision-making for facial phenotyping in genetic syndromes

2025-06-09

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> To assess whether saliency-based explainable artificial intelligence (XAI) can improve diagnostic accuracy, confidence, and perceived usefulness for recognition of genetic conditions based on facial images. <h4>Materials and methods</h4> Forty-four medical geneticists, divided into AI-only (n=23) and XAI-supported (n=21) groups, assessed eighteen images of individuals with a...

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Literature Corpus work: 01a692a6-642c-5cb4-a807-35d8056cf033
DOI: 10.1101/2025.06.08.25328588

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