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

Georgios V Gkoutos, Chris Mungall, Sandra Dolken, Michael Ashburner, Suzanna Lewis, John Hancock, Paul Schofield, Sebastian Kohler, Peter N Robinson

Research output: Chapter in Book/Report/Conference proceedingConference Proceeding (Non-Journal item)

69 Citations (SciVal)

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
PublisherIEEE Press
Pages7069-7072
Number of pages4
ISBN (Electronic)978-1-4244-3296-7
ISBN (Print)978-1-4244-3296-7
DOIs
Publication statusPublished - 2009
EventAnnual International conference of the IEEE, Engineering in Medicine and Biology Society - , United Kingdom of Great Britain and Northern Ireland
Duration: 03 Sept 200906 Sept 2009

Conference

ConferenceAnnual International conference of the IEEE, Engineering in Medicine and Biology Society
Country/TerritoryUnited Kingdom of Great Britain and Northern Ireland
Period03 Sept 200906 Sept 2009

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