This paper describes the application of an information technology infrastructure aimed at supporting translational bioinformatics studies which need the joint management of phenotypic and genotypic data. The system provides an integrated and easy to use software environment, based on data warehouse and data mining tools, to discover the most frequent complex phenotypes and search their penetrance and heritability by mapping them on the population pedigree. We first use a logical formalization to define phenotypes of interest in order to retrieve individuals having that phenotype from the electronic medical record. We then use an open-source Web-based data warehouse application for analyzing phenotypic data and presenting the results in a multidimensional format. Relationships between the selected individuals are automatically visualized by integrating in the system an ad-hoc developed pedigree visualization tool. Finally, the application of the system to support a genetic study of an isolated population, the Val Borbera project, is presented.

An Integrated IT System for Phenotypic and Genotypic Data Mining and Management

NUZZO, ANGELO;SEGAGNI, DANIELE;LARIZZA, CRISTIANA
2007

Abstract

This paper describes the application of an information technology infrastructure aimed at supporting translational bioinformatics studies which need the joint management of phenotypic and genotypic data. The system provides an integrated and easy to use software environment, based on data warehouse and data mining tools, to discover the most frequent complex phenotypes and search their penetrance and heritability by mapping them on the population pedigree. We first use a logical formalization to define phenotypes of interest in order to retrieve individuals having that phenotype from the electronic medical record. We then use an open-source Web-based data warehouse application for analyzing phenotypic data and presenting the results in a multidimensional format. Relationships between the selected individuals are automatically visualized by integrating in the system an ad-hoc developed pedigree visualization tool. Finally, the application of the system to support a genetic study of an isolated population, the Val Borbera project, is presented.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/32422
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