Authors:
Manuel Navarrete-Hidalgo
1
;
José Fabián Reyes Román
2
and
Óscar Pastor López
1
Affiliations:
1
PROS Research Center, Spain
;
2
PROS Research Center and Universidad Central del Este, Spain
Keyword(s):
Conceptual Modeling, Preventive Diagnosis, GeIS, Precision Medicine, ETL, CMHG.
Related
Ontology
Subjects/Areas/Topics:
Application Integration Technologies
;
Applications
;
Cross-Feeding between Data and Software Engineering
;
Model-Driven Engineering
;
Software Engineering
;
Software Engineering Methods and Techniques
Abstract:
Biomedicine and the preventive diagnosis of diseases open a series of lines of research as diverse as proposed solutions. However, the information that the humans contain within the genome represents a great challenge related to the processing and management of their biological information, whose success will depend directly on the structures that will be generated through the application of conceptual modeling techniques. In this context, this research work presents the development of a prototype of "Extraction-Transformation-Load", where biological information can be obtained from multiple scientific repositories that do not have direct interaction. For that reason, the Conceptual Model of the Human Genome (CMHG) proposed is used as a holistic representation of the domain with the aim of generating Genomic Information Systems (GeIS), which facilitate an efficient management of all the existing knowledge in the genome in order to enhance “Precision Medicine” (PM). This work defines
a GeIS for the preventive diagnosis of “congenital cataracts”, whose condition is not related to age and lifestyle, but to the genetic component of each person. In this way, we can provide an early diagnosis and possible means of personalized treatments.
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