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Information content as a health system screening tool for rare diseases

Abstract Rare diseases (RD) affect 3.5–5.9% of the global population, yet patients often endure a diagnostic odyssey averaging around 5–6 years, navigating multiple specialties and referrals. This study investigates the use of information content (IC) as a screening tool to identify RD candidates us...

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Autores principales: Tudor Groza, Peter N. Robinson, Weng Khong Lim, Kaavya Narasimhalu, Jenny Hsieh, Khung Keong Yeo, Goh Bee Keow, Terrence Thomas, Tien Yin Wong, Neerja Karnani, Gareth Baynam, Saumya Shekhar Jamuar
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Portfolio 2025-11-01
Colección:npj Digital Medicine
Acceso en línea:https://doi.org/10.1038/s41746-025-02096-x
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