Entity/quality-based logical definitions for the human skeletal phenome using PATO

G. V. Gkoutos, C. Mungall, S. Dolken, M. Ashburner, S. Lewis, J. Hancock, P. Schofield, S. Kohler, P. N. Robinson

Research output: Chapter in Book/Report/Conference proceedingConference contribution

63 Citations (Scopus)

Abstract

This paper describes an approach to providing computer-interpretable logical definitions for the terms of the Human Phenotype Ontology (HPO) using PATO, the ontology of phenotypic qualities, to link terms of the HPO to the anatomic and other entities that are affected by abnormal phenotypic qualities. This approach will allow improved computerized reasoning as well as a facility to compare phenotypes between different species. The PATO mapping will also provide direct links from phenotypic abnormalities and underlying anatomic structures encoded using the Foundational Model of Anatomy, which will be a valuable resource for computational investigations of the links between anatomical components and concepts representing diseases with abnormal phenotypes and associated genes.
Original languageEnglish
Title of host publicationEngineering in Medicine and Biology Society, 2009. EMBC 2009. Annual International Conference of the IEEE
PublisherInstitute of Electrical and Electronics Engineers (IEEE)
Pages7069-7072
Number of pages4
Volume2009
ISBN (Electronic)978-1-4244-3296-7
ISBN (Print)978-1-4244-3296-7
DOIs
Publication statusPublished - 2009
EventEngineering in Medicine and Biology Society, 2009 - Annual International Conference of the IEEE - Minneapolis, MN, United States
Duration: 3 Sep 20096 Sep 2009

Publication series

NameIEEE Engineering in Medicine and Biology Society. Conference Proceedings
PublisherIEEE
ISSN (Print)1557-170X

Conference

ConferenceEngineering in Medicine and Biology Society, 2009 - Annual International Conference of the IEEE
Country/TerritoryUnited States
CityMinneapolis, MN
Period3/09/096/09/09

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