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

  • Óscar Pastor
  • Matthijs van der Kroon
  • Ana M. Levin
  • Matilde Celma
  • Juan Carlos Casamayor
Conference paper
Part of the Communications in Computer and Information Science book series (CCIS, volume 272)


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.


Single Nucleotide Polymorphism Human Genome Conceptual Schema Main Research Question Individual Genome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Óscar Pastor
    • 1
  • Matthijs van der Kroon
    • 1
  • Ana M. Levin
    • 1
  • Matilde Celma
    • 1
  • Juan Carlos Casamayor
    • 1
  1. 1.Centro de Investigación en Métodos de Producción de Software -PROSUniversidad Politécnica de ValenciaValenciaSpain

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