Improving ontologies by automatic reasoning and evaluation of logical definitions

被引:22
作者
Koehler, Sebastian [1 ,2 ]
Bauer, Sebastian [1 ]
Mungall, Chris J. [3 ]
Carletti, Gabriele [4 ]
Smith, Cynthia L. [5 ]
Schofield, Paul [5 ,6 ]
Gkoutos, Georgios V. [7 ]
Robinson, Peter N. [1 ,2 ,8 ]
机构
[1] Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany
[2] Charite, Berlin Brandenburg Ctr Regenerat Therapies BCRT, D-13353 Berlin, Germany
[3] Lawrence Berkeley Natl Lab, Berkeley, CA 94720 USA
[4] Univ Camerino, Dipartimento Matemat & Informat, I-62032 Camerino, MC, Italy
[5] Jackson Lab, Bar Harbor, ME 04609 USA
[6] Univ Cambridge, Dept Physiol Dev & Neurosci, Cambridge CB2 3EG, England
[7] Univ Cambridge, Dept Genet, Cambridge CB2 3EH, England
[8] Max Planck Inst Mol Genet, D-14195 Berlin, Germany
来源
BMC BIOINFORMATICS | 2011年 / 12卷
关键词
PHENOTYPE ONTOLOGY; DATABASE; SUPPORT; MODEL;
D O I
10.1186/1471-2105-12-418
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Background: Ontologies are widely used to represent knowledge in biomedicine. Systematic approaches for detecting errors and disagreements are needed for large ontologies with hundreds or thousands of terms and semantic relationships. A recent approach of defining terms using logical definitions is now increasingly being adopted as a method for quality control as well as for facilitating interoperability and data integration. Results: We show how automated reasoning over logical definitions of ontology terms can be used to improve ontology structure. We provide the Java software package GULO ( Getting an Understanding of LOgical definitions), which allows fast and easy evaluation for any kind of logically decomposed ontology by generating a composite OWL ontology from appropriate subsets of the referenced ontologies and comparing the inferred relationships with the relationships asserted in the target ontology. As a case study we show how to use GULO to evaluate the logical definitions that have been developed for the Mammalian Phenotype Ontology ( MPO). Conclusions: Logical definitions of terms from biomedical ontologies represent an important resource for error and disagreement detection. GULO gives ontology curators a fast and simple tool for validation of their work.
引用
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页数:8
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