A Web-based System for Phenotypic and Genotypic Data Integration and Exploration

Angelo Nuzzo, Alberto Riva and Riccardo Bellazzi



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. We extended the functionalities of a previously-developed software system, the Phenotype Miner, enabling it to retrieve genotype information from external repositories and to relate it to phenotypic data. For this purpose we developed two additional components: 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. Here we present a description of the new modules, and an example application of the system in which we analyze two related genomic datasets, in order to show how a comprehensive, integrated and automated workbench can facilitate and improve the hypothesis generation process underlying modern genetic studies.

Index Terms Web service, database query processing, genetics.