Improving the semantics of a conceptual schema of the human genome by incorporating the modeling of SNPs

Abstract

In genetic research, the concept known as SNP, or single nucleotide polymorphism, plays an important role in detection of genes associated with complex ailments and detection of hereditary susceptibility of an individual to a specific trait. Discussing the issue, as it surfaced in the development of a conceptual schema for the human genome, it became clear a high degree of conceptual ambiguity surrounds the term. Solving this ambiguity has lead to the main research question: What makes a genetic variation, classified as a SNP different from genetic variations, not classified as SNP?. For optimal biological research to take place, an unambiguous conceptualization is required. Our main contribution is to show how conceptual modeling techniques applied to human genome concepts can help to disambiguate and correctly represent the relevant concepts in a conceptual schema, thereby achieving a deeper and more adequate understanding of the domain. © 2013 Springer-Verlag Berlin Heidelberg.