Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease

BACKGROUND: Alkaptonuria (AKU) is an ultra-rare autosomal recessive disease caused by a mutation in the homogentisate 1,2-dioxygenase (HGD) gene. One of the main obstacles in studying AKU, and other ultra-rare diseases, is the lack of a standardized methodology to assess disease severity or response...

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Detalles Bibliográficos
Autores principales: Spiga, Ottavia, Cicaloni, Vittoria, Fiorini, Cosimo, Trezza, Alfonso, Visibelli, Anna, Millucci, Lia, Bernardini, Giulia, Bernini, Andrea, Marzocchi, Barbara, Braconi, Daniela, Prischi, Filippo, Santucci, Annalisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017449/
https://www.ncbi.nlm.nih.gov/pubmed/32050984
http://dx.doi.org/10.1186/s13023-020-1305-0

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