6533b82afe1ef96bd128b5f5

RESEARCH PRODUCT

Applying Conceptual Modeling to Better Understand the Human Genome

Francisco ValverdeJosé Fabián Reyes RománJosé Fabián Reyes RománOscar PastorJuan Carlos Casamayor

subject

0301 basic medicineComputer science0206 medical engineeringRepresentation (systemics)GenomicsContext (language use)02 engineering and technologyData scienceConceptual schemaDomain (software engineering)03 medical and health sciences030104 developmental biologyGenomic informationHuman genome020602 bioinformatics

description

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.

yearjournalcountryeditionlanguage
2016-01-01
https://doi.org/10.1007/978-3-319-46397-1_31