Improving the Semantics of a Conceptual Schema of the Human Genome by Incorporating the Modeling of SNPs

摘要: 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 hereditary susceptibility individual to a specific trait. Discussing issue, it surfaced development conceptual schema for human genome, became clear high degree ambiguity surrounds term. Solving this has lead main research question: What makes variation, classified SNP different from variations, not SNP?. For optimal biological take place, unambiguous conceptualization is required. Our contribution show how modeling techniques applied genome concepts can help disambiguate correctly represent relevant schema, thereby achieving deeper more adequate understanding domain.