Author/Editor		Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O.B.; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L.; Matentzoglu, Nicolas; Sergouniotis, Panagiotis I.
Title		Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Type		članek
Vol. and No.		Letnik 47, št. D1
Publication year		2019
Volume		str. D1018-D1027
ISSN		0305-1048 - Nucleic acids research
Language		eng
Abstract		The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousandsof researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO thede facto standard for deep phenotyping in the fieldof rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as wellas integrations with external community data. The HPO continues to collaborate with clinical adoptersto improve specific areas of the ontology and ex-tend standardized disease descriptions. The newlyredesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and explor-ing clinical features, diseases, and human genes.
Keywords		phenotype ontology databases bioinformatics fenotipska ontologija podatkovne zbirke bioinformatika