Entity/Quality-Based Logical Definitions for the Human Skeletal Phenome using PATO

被引：54

作者：

Gkoutos, Georgios V. ^{[1
]}

Mungall, Chris ^{[4
]}

Doelken, Sandra ^{[5
]}

Ashburner, Michael ^{[1
]}

Lewis, Suzanna ^{[4
]}

Hancock, John ^{[2
]}

Schofield, Paul ^{[3
]}

Koehler, Sebastian ^{[5
]}

Robinson, Peter N. ^{[5
]}

机构：

[1] Univ Cambridge, Dept Genet, Downing St, Cambridge CB2 3EH, England

[2] MRC Mammalian Genet Unit, Harwell, Berks, England

[3] Univ Cambridge, Dept Anat, Cambridge CB2 3EH, England

[4] Lawrence Berkeley Natl Lab, Berkeley, CA 94720 USA

[5] Charite, Inst Med Genet, D-13353 Berlin, Germany

来源：

2009 ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE AND BIOLOGY SOCIETY, VOLS 1-20 | 2009年

关键词：

PHENOTYPE ONTOLOGY; TOOL;

D O I：

10.1109/IEMBS.2009.5333362

中图分类号：

R318 [生物医学工程];

学科分类号：

0831 ;

摘要：

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.

引用

页码：7069 / +

页数：2

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