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

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, with an a...

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Bibliographic Details
Main Author: Rolando, Matías (author)
Other Authors: Raggio, Victor (author), Naya, Hugo (author), Cagnina, Leticia (author), Spangenberg, Lucía (author)
Format: article
Language:English
Published: 2025
Subjects:
Online Access:https://hdl.handle.net/20.500.12381/4061
https://doi.org/10.1038/s41598-025-90450-0
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