Abstract
The reclassification of the genomic variation’s pathogenicity is not a rare event, and it may have dramatic consequences on a patient’s diagnosis and treatment. In this work, we present a characterization of the temporal dimension concept regarding the variation’s reclassification. Following this, we have expanded this characterization to include other dimensions of genomics that can also change over time. This characterization allows identifying what dimensions change, why they change, and how we can deal with these changes. On the other hand, this characterization has been the base to develop a conceptual based-approach that has let us solve the problems regarding the temporal dimension in a real-world, specific working context.
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García Simón, A., Costa Sánchez, M., Pastor, O. (2021). Characterization and Treatment of the Temporal Dimension of Genomic Variations: A Conceptual Model-Based Approach. In: Reinhartz-Berger, I., Sadiq, S. (eds) Advances in Conceptual Modeling. ER 2021. Lecture Notes in Computer Science(), vol 13012. Springer, Cham. https://doi.org/10.1007/978-3-030-88358-4_9
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