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...
Enregistré dans:
| Auteur principal: | |
|---|---|
| Autres auteurs: | , , , |
| Format: | article |
| Langue: | anglais |
| Publié: |
2025
|
| Sujets: | |
| Accès en ligne: | https://hdl.handle.net/20.500.12381/4061 https://doi.org/10.1038/s41598-025-90450-0 |
| Tags: |
Pas de tags, Soyez le premier à ajouter un tag!
|
Documents similaires: A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
- Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease
- Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report
- Informe final del proyecto: Verificación de Sistemas Inteligentes con Componentes con Capacidad de Aprendizaje
- Revealing the biotechnological potential of Delftia sp. JD2 by a genomic approach
- Informe final del proyecto: Herramientas genómicas costo-efectivas para el diagnóstico de enfermedades raras
- Prueba de concepto del framework de OpenMined para modelos de Machine Learning