miércoles, 12 de febrero de 2020

Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease | Orphanet Journal of Rare Diseases | Full Text

Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease | Orphanet Journal of Rare Diseases | Full Text

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, i...
Authors:Ottavia Spiga, Vittoria Cicaloni, Cosimo Fiorini, Alfonso Trezza, Anna Visibelli, Lia Millucci, Giulia Bernardini, Andrea Bernini, Barbara Marzocchi, Daniela Braconi, Filippo Prischi and Annalisa Santucci
Citation:Orphanet Journal of Rare Diseases 2020 15:46
Content type:Research
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