Enrichment analysis applied to disease prognosis_CatiaMMachado

Enrichment analysis is normally used to identify relevant biological features that can be used to describe a set of genes under analysis that, for example, share a common expression profile. In this article we propose the exploitation of enrichment analysis for a different purpose: the evaluation of a disease prognosis. With this application of enrichment analysis we expect to identify clinical and biological features that best differentiate between patients that suffered a specific disease event from those that did not. The features thus identified will be used to create patient profiles, which will in turn be evaluated through similarity and supervised classification approaches to predict the occurrence of the event. This article presents the enrichment analysis methodology proposed for a prognosis study, in which we use the disease hypertrophic cardiomyopathy and its most severe manifestation, sudden cardiac death, as a case study.