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

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

Abstract 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...

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Bibliographic Details
Main Authors: Ottavia Spiga, Vittoria Cicaloni, Cosimo Fiorini, Alfonso Trezza, Anna Visibelli, Lia Millucci, Giulia Bernardini, Andrea Bernini, Barbara Marzocchi, Daniela Braconi, Filippo Prischi, Annalisa Santucci
Format: Article
Language:English
Published: BMC 2020-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Rare disease
Alkaptonuria
Machine learning
QoL scores
Precision medicine
Online Access:https://doi.org/10.1186/s13023-020-1305-0

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