Similarity-based search of model organism, disease and drug effect phenotypes

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• 作者：Robert Hoehndorf (1) (2)
  Michael Gruenberger (3)
  Georgios V Gkoutos (4)
  Paul N Schofield (3)
  
  1. Computational Bioscience Research Center ; King Abdullah University of Science and Technology ; 4700 KAUST ; Thuwal ; 23955-6900 ; Saudi Arabia
  2. Computer ; Electrical and Mathematical Sciences & Engineering Division ; King Abdullah University of Science and Technology ; 4700 KAUST ; Thuwal ; 23955-6900 ; Saudi Arabia
  3. Department of Computer Science ; Aberystwyth University ; Llandinam Building ; Aberystwyth ; SY23 3DB ; UK
  4. Department of Physiology ; Development & Neuroscience ; University of Cambridge ; Downing Street ; Cambridge ; CB2 3EG ; UK
  
• 关键词：Phenotype ; Semantic similarity ; Ontology
• 刊名：Journal of Biomedical Semantics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：6
• 期：1
• 全文大小：336 KB
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• 刊物主题：Algorithms; Computer Appl. in Life Sciences; Data Mining and Knowledge Discovery; Computational Biology/Bioinformatics; Bioinformatics; Combinatorial Libraries;
• 出版者：BioMed Central
• ISSN：2041-1480

文摘

Background Semantic similarity measures over phenotype ontologies have been demonstrated to provide a powerful approach for the analysis of model organism phenotypes, the discovery of animal models of human disease, novel pathways, gene functions, druggable therapeutic targets, and determination of pathogenicity. Results We have developed PhenomeNET 2, a system that enables similarity-based searches over a large repository of phenotypes in real-time. It can be used to identify strains of model organisms that are phenotypically similar to human patients, diseases that are phenotypically similar to model organism phenotypes, or drug effect profiles that are similar to the phenotypes observed in a patient or model organism. PhenomeNET 2 is available at http://aber-owl.net/phenomenet. Conclusions Phenotype-similarity searches can provide a powerful tool for the discovery and investigation of molecular mechanisms underlying an observed phenotypic manifestation. PhenomeNET 2 facilitates user-defined similarity searches and allows researchers to analyze their data within a large repository of human, mouse and rat phenotypes.