A holistic approach for integrating genomic variation information

Abstract

Personalized medicine is strongly tied with human variome research: understanding the impact of specific genetic sequence mutations on observable human traits will play a key role in the quest for custom drugs therapies and improved patient care. Recent growth in this particular field leveraged the appearance of locus-specific databases (LSDBs). Although these systems are praised in the scientific community, they lack some features that can promote a more widespread usage. Existing systems are closed, independent and designed solely for gene curators. In this paper we present a new approach based on a holistic perspective of the genomic variation field, envisaging the integration of LSDBs, genes and variants, as well as a broad set of related resources in an innovative workspace. A prototype implementation for this approach is deployed online at http://bioinformatics.ua.pt/WAVe . © 2012 Springer-Verlag.