Abstract
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.
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Notes
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A single nucleotide polymorphism (SNP), is a variation at a single position in a DNA sequence among individuals. Recall that the DNA sequence is formed from a chain of four nucleotide bases: A, C, G, and T [Scitable by Nature Education].
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Acknowledgements
This work has been supported by the Ministry of Higher Education, Science and Technology (MESCyT). Santo Domingo, Dominican Rep. and by Spanish Ministry of Economy and Competitiveness under the project PI13/02247 cofinanced with ERDF.
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Reyes Román, J.F., Pastor, Ó., Casamayor, J.C., Valverde, F. (2016). Applying Conceptual Modeling to Better Understand the Human Genome. In: Comyn-Wattiau, I., Tanaka, K., Song, IY., Yamamoto, S., Saeki, M. (eds) Conceptual Modeling. ER 2016. Lecture Notes in Computer Science(), vol 9974. Springer, Cham. https://doi.org/10.1007/978-3-319-46397-1_31
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DOI: https://doi.org/10.1007/978-3-319-46397-1_31
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