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Genomic tools*: Web-applications based on conceptual models for the genomic diagnosis

Abstract:

Although experts in the genomics field now work with bioinformatics tools (software) to generate genomic diagnoses, the fact is that these solutions do not fully meet their needs. From the perspective of Information Systems (IS), the real problems lie in the lack of an approach (i.e., Software Engineering techniques) that can generate correct structures for data management. Due to the problems of dispersion, heterogeneity and the inconsistency of the data, understanding the genomic domain is a huge challenge. To demonstrate the advantages of Conceptual Modeling (CM) in complex domains -such as genomics- we propose two web-based tools for genomic diagnosis that incorporates: (i) a Conceptual Model for the direct-to-consumer genetic tests (DCGT), and (ii) our Conceptual Model of the Human Genome (CMHG), both with the aim of taking advantage of Next-Generation Sequencing (NGS) for ensuring genomic diagnostics that help to maximize the Precision Medicine (PM).