Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

Abstract Background There are approximately 8,000 different rare diseases that affect roughly 400 million people worldwide. Many of them suffer from delayed diagnosis. Ciliopathies are rare monogenic disorders characterized by a significant phenotypic and genetic heterogeneity that raises an importa...

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Bibliographic Details

Published in:	BMC Medical Informatics and Decision Making
Main Authors:	Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean-Michel Rozet, Valérie Cormier-Daire, Tania Attié-Bitach, Stanislas Lyonnet, Sophie Saunier, Anita Burgun
Format:	Article
Language:	English
Published:	BMC 2024-05-01
Subjects:	Ciliopathy Clinical decision support Rare diseases Electronic health record Artificial intelligence External evaluation
Online Access:	https://doi.org/10.1186/s12911-024-02538-8