Phenotypic and genotypic data integration and exploration through a web-service architecture
<p>Abstract</p> <p>Background</p> <p>Linking genotypic and phenotypic information is one of the greatest challenges of current genetics research. The definition of an Information Technology infrastructure to support this kind of studies, and in particular studies aimed...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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BMC
2009-10-01
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| Series: | BMC Bioinformatics |
| _version_ | 1811266109428465664 |
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| author | Bellazzi Riccardo Riva Alberto Nuzzo Angelo |
| author_facet | Bellazzi Riccardo Riva Alberto Nuzzo Angelo |
| author_sort | Bellazzi Riccardo |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Linking genotypic and phenotypic information is one of the greatest challenges of current genetics research. The definition of an Information Technology infrastructure to support this kind of studies, and in particular studies aimed at the analysis of complex traits, which require the definition of multifaceted phenotypes and the integration genotypic information to discover the most prevalent diseases, is a paradigmatic goal of Biomedical Informatics. This paper describes the use of Information Technology methods and tools to develop a system for the management, inspection and integration of phenotypic and genotypic data.</p> <p>Results</p> <p>We present the design and architecture of the Phenotype Miner, a software system able to flexibly manage phenotypic information, and its extended functionalities to retrieve genotype information from external repositories and to relate it to phenotypic data. For this purpose we developed a module to allow customized data upload by the user and a SOAP-based communications layer to retrieve data from existing biomedical knowledge management tools. In this paper we also demonstrate the system functionality by an example application of the system in which we analyze two related genomic datasets.</p> <p>Conclusion</p> <p>In this paper we show how a comprehensive, integrated and automated workbench for genotype and phenotype integration can facilitate and improve the hypothesis generation process underlying modern genetic studies.</p> |
| first_indexed | 2024-04-12T20:37:09Z |
| format | Article |
| id | doaj.art-92e5e75ebe754d6d8e4c705dcc6aecee |
| institution | Directory Open Access Journal |
| issn | 1471-2105 |
| language | English |
| last_indexed | 2024-04-12T20:37:09Z |
| publishDate | 2009-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Bioinformatics |
| spelling | doaj.art-92e5e75ebe754d6d8e4c705dcc6aecee2022-12-22T03:17:33ZengBMCBMC Bioinformatics1471-21052009-10-0110Suppl 12S510.1186/1471-2105-10-S12-S5Phenotypic and genotypic data integration and exploration through a web-service architectureBellazzi RiccardoRiva AlbertoNuzzo Angelo<p>Abstract</p> <p>Background</p> <p>Linking genotypic and phenotypic information is one of the greatest challenges of current genetics research. The definition of an Information Technology infrastructure to support this kind of studies, and in particular studies aimed at the analysis of complex traits, which require the definition of multifaceted phenotypes and the integration genotypic information to discover the most prevalent diseases, is a paradigmatic goal of Biomedical Informatics. This paper describes the use of Information Technology methods and tools to develop a system for the management, inspection and integration of phenotypic and genotypic data.</p> <p>Results</p> <p>We present the design and architecture of the Phenotype Miner, a software system able to flexibly manage phenotypic information, and its extended functionalities to retrieve genotype information from external repositories and to relate it to phenotypic data. For this purpose we developed a module to allow customized data upload by the user and a SOAP-based communications layer to retrieve data from existing biomedical knowledge management tools. In this paper we also demonstrate the system functionality by an example application of the system in which we analyze two related genomic datasets.</p> <p>Conclusion</p> <p>In this paper we show how a comprehensive, integrated and automated workbench for genotype and phenotype integration can facilitate and improve the hypothesis generation process underlying modern genetic studies.</p> |
| spellingShingle | Bellazzi Riccardo Riva Alberto Nuzzo Angelo Phenotypic and genotypic data integration and exploration through a web-service architecture BMC Bioinformatics |
| title | Phenotypic and genotypic data integration and exploration through a web-service architecture |
| title_full | Phenotypic and genotypic data integration and exploration through a web-service architecture |
| title_fullStr | Phenotypic and genotypic data integration and exploration through a web-service architecture |
| title_full_unstemmed | Phenotypic and genotypic data integration and exploration through a web-service architecture |
| title_short | Phenotypic and genotypic data integration and exploration through a web-service architecture |
| title_sort | phenotypic and genotypic data integration and exploration through a web service architecture |
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