Applying Conceptual Modeling to Better Understand the Human Genome

The objective of the work is to present the benefits of the application of Conceptual Modeling (CM) in complex domains, such as genomics. This paper explains the evolution of a Conceptual Schema of the Human Genome (CSHG), which seeks to provide a clear and precise understanding of the human genome. We want to highlighting all the advantages of the application of CM in a complex domain such as Genomic Information Systems (GeIS). We show how over time this model has evolved, thus we have discovered better forms of representation. As we advanced in exploring the domain, we understood that we should be extending and incorporating the new concepts detected into our model. Here we present and discuss the evolution to reach the current version (CSHG v2). A solution based on conceptual models gives a clear definition of the domain with direct implications for the medical context.