Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods

@inproceedings{Notaro2017PredictionOH,
  title={Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods},
  author={Marco Notaro and Max Schubach and Peter N. Robinson and Giorgio Valentini},
  booktitle={BMC Bioinformatics},
  year={2017}
}
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 of gene–disease associations has been widely investigated, the related problem of gene… CONTINUE READING
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