Handle URI:
http://hdl.handle.net/10754/601407
Title:
Knowledge-based analysis of phenotypes
Authors:
Hoendorf, Robert
Abstract:
Phenotypes are the observable characteristics of an organism, and they are widely recorded in biology and medicine. To facilitate data integration, ontologies that formally describe phenotypes are being developed in several domains. I will describe a formal framework to describe phenotypes. A formalized theory of phenotypes is not only useful for domain analysis, but can also be applied to assist in the diagnosis of rare genetic diseases, and I will show how our results on the ontology of phenotypes is now applied in biomedical research.
KAUST Department:
Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
Conference/Event name:
KAUST Research Conference on Computational and Experimental Interfaces of Big Data and Biotechnology
Issue Date:
27-Jan-2016
Type:
Presentation
Appears in Collections:
KAUST Research Conference on Computational and Experimental Interfaces of Big Data and Biotechnology, January 2016; Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division

Full metadata record

DC FieldValue Language
dc.contributor.authorHoendorf, Roberten
dc.date.accessioned2016-03-16T12:53:30Zen
dc.date.available2016-03-16T12:53:30Zen
dc.date.issued2016-01-27en
dc.identifier.urihttp://hdl.handle.net/10754/601407en
dc.description.abstractPhenotypes are the observable characteristics of an organism, and they are widely recorded in biology and medicine. To facilitate data integration, ontologies that formally describe phenotypes are being developed in several domains. I will describe a formal framework to describe phenotypes. A formalized theory of phenotypes is not only useful for domain analysis, but can also be applied to assist in the diagnosis of rare genetic diseases, and I will show how our results on the ontology of phenotypes is now applied in biomedical research.en
dc.titleKnowledge-based analysis of phenotypesen
dc.typePresentationen
dc.contributor.departmentComputer, Electrical and Mathematical Sciences and Engineering (CEMSE) Divisionen
dc.conference.dateJanuary 25-27, 2016en
dc.conference.nameKAUST Research Conference on Computational and Experimental Interfaces of Big Data and Biotechnologyen
dc.conference.locationKAUST, Thuwal, Saudi Arabiaen
kaust.authorHoendorf, Roberten
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