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Article

Automated Identification of Missing IS-A Relations in the Human Phenotype Ontology.

AMIA ... Annual Symposium proceedings. AMIA Symposium - 1 Jan 2022

Mohtashamian Maryamsadat, Hu Ran, Abeysinghe Rashmie, Hao Xubing, Xu Hua, Cui Licong

Abstract excerpt

Auditing the Human Phenotype Ontology (HPO) is necessary to provide accurate terminology for its use in clinical research. We investigate an approach leveraging the lexical features of concepts in HPO to identify missing IS-A relations among HPO concepts. We first model the names of HPO concepts as sets of words in lower case. Then, we generate two types of concept-pairs which have at least a single common word:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37128366
PMCID: PMC10148310

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