Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists

Background: Analysis of inherited diseases and their associated phenotypes is of great importance to gain knowledge of underlying genetic interactions and could ultimately give clinically useful insights into disease processes, including complex diseases influenced by multiple genetic loci. Nevertheless, to date few computational contributions have been proposed for this purpose, mainly due to lack of controlled clinical information easily accessible and structured for computational genome-wise analyses. To allow performing phenotype analyses of inherited disorder related genes we implemented new original modules within GFINDer http:// www.bioinformatics.polimi.it/GFINDer/, a Web system we previously developed that dynamically aggregates functional annotations of user uploaded gene lists and allows performing their statistical analysis and mining. Results: New GFINDer modules allow annotating large numbers of user classified biomolecular sequence identifiers with morbidity and clinica...

• Type: Journal
• Year: 2005
• Where: BMCBI
• Authors: Marco Masseroli, Osvaldo Galati, Mauro Manzotti, Karina Gibert, Francesco Pinciroli
• Keywords: BMCBI 2005, Diseases, Inherited Diseases, Phenotypes