Article
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
Briefings in bioinformatics - 2 Sept 2021
Spiga Ottavia, Cicaloni Vittoria, Dimitri Giovanna Maria, Pettini Francesco, Braconi Daniela, Bernini Andrea, Santucci Annalisa
Abstract excerpt
Alkaptonuria (AKU, OMIM: 203500) is an autosomal recessive disorder caused by mutations in the Homogentisate 1,2-dioxygenase (HGD) gene. A lack of standardized data, information and methodologies to assess disease severity and progression represents a common complication in ultra-rare disorders like AKU. This is the reason why we developed a comprehensive tool, called ApreciseKUre, able to collect AKU patients...
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