Article
Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.
BMC bioinformatics - 12 Oct 2017
Notaro Marco, Schubach Max, Robinson Peter N, Valentini Giorgio
Abstract excerpt
BACKGROUND: The prediction of human gene-abnormal phenotype associations is a fundamental step toward the discovery of novel genes associated with human disorders, especially when no genes are known to be associated with a specific disease. In this context the Human Phenotype Ontology (HPO) provides a standard categorization of the abnormalities associated with human diseases. While the problem of the prediction...
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