Article

PHENOstruct: Prediction of human phenotype ontology terms using heterogeneous data sources

2015-07-16

Abstract excerpt

The human phenotype ontology (HPO) was recently developed as a standardized vocabulary for describing the phenotype abnormalities associated with human diseases. At present, only a small fraction of human protein coding genes have HPO annotations. But, researchers believe that a large portion of currently unannotated genes are related to disease phenotypes. Therefore, it is important to predict gene-HPO term assoc...

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Literature Corpus work: 8768a827-1065-542f-964a-849e0880a57a
DOI: 10.12688/f1000research.6670.1

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