Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria

BACKGROUND: With the growing adoption of the electronic health record (EHR) worldwide over the last decade, new opportunities exist for leveraging EHR data for detection of rare diseases. Rare diseases are often not diagnosed or delayed in diagnosis by clinicians who encounter them infrequently. One...

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Detalles Bibliográficos
Autores principales: Cohen, Aaron M., Chamberlin, Steven, Deloughery, Thomas, Nguyen, Michelle, Bedrick, Steven, Meninger, Stephen, Ko, John J., Amin, Jigar J., Wei, Alex J., Hersh, William
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331997/
https://www.ncbi.nlm.nih.gov/pubmed/32614911
http://dx.doi.org/10.1371/journal.pone.0235574

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