A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches

Abstract Rare diseases (RDs) are a group of pathologies that individually affect less than 1 in 2000 people but collectively impact around 7% of the world’s population. Most of them affect children, are chronic and progressive, and have no specific treatment. RD patients face diagnostic challenges,...

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Bibliographic Details
Main Authors: Matias Rolando, Victor Raggio, Hugo Naya, Lucia Spangenberg, Leticia Cagnina
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-90450-0
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