An extensible platform for variome data integration

Genetic mutations are the underlying cause of common human traits like hair color, rare conditions like Mendelian diseases, or response to drugs. Understanding the set of mutations in the genetic sequence, the variome, is extremely valuable to achieve the ultimate goals of personal genomics and personalized medicine. This critical life sciences research field has grown greatly in recent years, mostly due to the appearance of projects such as the Human Variome Project or the European GEN2PHEN Project. Nonetheless, variome data integration systems and included variants are far from being standardized and widely used in the research community workflow. The majority of human variome resources remain disconnected and a single view over all these data is clearly missing. In this paper, an extensible engine for genetic variation data integration is presented. Extensions can be easily added to the platform as new features, related data types or connections to distributed resources. A gene-centric web portal, deployed upon the proposed platform, which offers transparent access to multiple locus-specific databases, to known variants and to complementary gene-related information, is also detailed.