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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Integrating phenotype ontologies across multiple species. | Mungall et al. Genome Biology 2010 11 R2 http genomebiology.eom 2010 11 1 R2 w Genome Biology METHOD Open Access Integrating phenotype ontologies across multiple species Christopher J Mungall t1 Georgios V Gkoutost2 Cynthia L Smith3 Melissa A Haendel4 Suzanna E Lewis1 and Michael Ashburner2 Abstract Phenotype ontologies are typically constructed to serve the needs of a particular community such as annotation of genotype-phenotype associations in mouse or human. Here we demonstrate how these ontologies can be improved through assignment of logical definitions using a core ontology of phenotypic qualities and multiple additional ontologies from the Open Biological Ontologies library. We also show how these logical definitions can be used for data integration when combined with a unified multi-species anatomy ontology. Background The completion of the Human Genome Project 1 2 has resulted in an increase in high-throughput systematic projects aimed at elucidating the molecular basis of human disease. Accurate precise and comparable phenotypic information is critical for gaining an in-depth understanding of the relationship between diseases and genes as well as shedding light upon the influence of different environments on individual genotypes. Natural language free-text descriptions allow for maximum expressivity but the results are difficult to compute over. Structured controlled vocabularies and ontologies provide an alternative means of recording phenotypes in a way that combines a large degree of expressivity with the benefits of computability. A number of different ontologies have been developed for describing phenotypes and whilst this is a welcome improvement over free-text descriptions one problem is that these ontologies are developed for use within a particular project or species and are not mutually interoperable. This means that it is difficult or extremely difficult to combine genotypephenotype data from multiple databases - for example if we wanted to .
