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HPO2GO: prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences.


ABSTRACT: Analysing the relationships between biomolecules and the genetic diseases is a highly active area of research, where the aim is to identify the genes and their products that cause a particular disease due to functional changes originated from mutations. Biological ontologies are frequently employed in these studies, which provides researchers with extensive opportunities for knowledge discovery through computational data analysis. In this study, a novel approach is proposed for the identification of relationships between biomedical entities by automatically mapping phenotypic abnormality defining HPO terms with biomolecular function defining GO terms, where each association indicates the occurrence of the abnormality due to the loss of the biomolecular function expressed by the correspondi

SUBMITTER: Dogan T 

PROVIDER: S-EPMC6076985 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature