Evaluation of high-throughput functional categorization of human disease genes

Background: Biological data that are well-organized by an ontology, such as Gene Ontology, enables high-throughput availability of the semantic web. It can also be used to facilitate high throughput classification of biomedical information. However, to our knowledge, no evaluation has been published on automating classifications of human diseases genes using Gene Ontology. In this study, we evaluate automated classifications of well-defined human disease genes using their Gene Ontology annotations and compared them to a gold standard. This gold standard was independently conceived by Valle's research group, and contains 923 human disease genes organized in 14 categories of protein function. Results: Two automated methods were applied to investigate the classification of human disease genes into independently pre-defined categories of protein function. One method used the structure of Gene Ontology by pre-selecting 74 Gene Ontology terms assigned to 11 protein function categories....

• Type: Journal
• Year: 2007
• Where: BMCBI
• Authors: James L. Chen, Yang Liu, Lee T. Sam, Jianrong Li, Yves A. Lussier
• Keywords: BMCBI 2007, Gene Ontology, Human Disease, Human Disease Genes