Conceptual modeling of human genome: Integration challenges

While Information Systems (IS) principles have been successfully applied to the design, implementation and management of a diverse set of domains, the Bioinformatics domain in general and the Genomic one in particular, often lacks a rigorous IS background, based on elaborating a precise Conceptual Model where the relevant concepts of the domain were properly defined. On the contrary, current genomic data repositories focus on the solution space in the form of diverse, ad-hoc databases that use to be hard to manage, evolve and intercommunicate. Conceptual Modeling as a central strategy is then far from the current biological data source ontologies that are heterogeneous, imprecise and too often even inconsistent when compared among them. To solve this problem, a concrete Conceptual Schema for the Human Genome (CSHG) is introduced in its latest version on this chapter. With a holistic perspective, the CSHG focuses on the different genomic views that must be integrated and emphasizes the value of the approach in order to deal appropriately the challenge of correctly interpreting the human genome. © 2012 Springer-Verlag Berlin Heidelberg.