The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread...
The Human Phenotype Ontology (HPO) is being developed in an effort to provide such a vocabulary. The use of an ontology to capture phenotypic information allows the use of computational algorithms that exploit semantic similarity between related phenotypic abnormalities to define phenotypic similarity ...
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translational research, but a comparable resource has not been available for common disease. Here, we have developed ...
TheChineseHumanPhenotypeOntologv1.02016-08 中文人类表型标准用语联盟（The Chinese Human Phenotype Ontology Consortium, CHPO）用户使用协议 请务必认真阅读和理解本《用户使用协议》（以下简称《协议》）中规定的所有权利和限制。除非您接受本《协议》条款，否则您无权注册、登录或使用本协议所涉及的相关服务。您一旦...
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-p
The Human Phenotype Ontology (HPO) is used widely in clinical and research genetics for concise communication and modeling of clinical features, allowing extracted data to be harmonized using logical inference. We sought to redesign the HPO seizure subontology to improve its consistency with current ...
However, biomedical ontology-based named entity recognition continues to be a major research problem. This paper presents an automated synonym-substitution method to enrich the Human Phenotype Ontology (HPO) with new synonyms. The approach is mainly based on both the lexical properties of the terms ...
genotype-phenotype correlation of two prevalent lt;em gt;gjb2 lt;em gt; mutations in chinese newborn infants ascertained from the universal newborn hearing screening program 热度: 中文人类表型标准用语联盟(TheChineseHumanPhenotypeOntology Consortium,CHPO)用户使用协议 ...
The Human Phenotype Ontology is a standardized platform with recognized clinical value [24], but the selection of an optimal threshold requires reference datasets to assess the precise significance of the similarity score. In PhenUMA, we set a score for semantic similarity that is suitable to ...
The study of disease-phenotype relationships has been hampered by the scarcity of suitable large-scale, machine-readable knowledge bases. Existing resources, such as the Online Mendelian Inheritance in Man (OMIM) [3] and the Human Phenotype Ontology (HPO) [4] are manually constructed, making the...