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

ABSTRACT:

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 of gene-disease associations has been widely investigated, the related problem of gene-phenotypic feature (i.e., HPO term) associations has been largely overlooked, even if for most human genes no HPO term associations are known and despite the increasing application of the HPO to relevant medical problems. Moreover most of the methods proposed in literature are not able to

SUBMITTER: Notaro M 

PROVIDER: S-EPMC5639780 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature