0000000000658975
AUTHOR
José Fabián Reyes Román
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 di…
How to deal with Haplotype data: An Extension to the Conceptual Schema of the Human Genome
[EN] The goal of this work is to describe the advantages of the application of Conceptual Modeling (CM) in complex domains, such as genomics. Nowadays, the study and comprehension of the human genome is a major challenge due to its high level of complexity. The constant evolution in the genomic domain contributes to the generation of ever larger amounts of new data, which means that if we do not manage it correctly data quality could be compromised (i.e., problems related with heterogeneity and inconsistent data). In this paper, we propose the use of a Conceptual Schema of the Human Genome (CSHG), designed to understand and improve our ontological commitment to the domain and also extend (e…