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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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Spiga, Ottavia, Cicaloni, Vittoria, Fiorini, Cosimo, Trezza, Alfonso, Visibelli, Anna, Millucci, Lia, Bernardini, Giulia, Bernini, Andrea, Marzocchi, Barbara, Braconi, Daniela, Prischi, Filippo, Santucci, Annalisa
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7017449/
https://ncbi.nlm.nih.gov/pubmed/32050984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1305-0
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