Design and Implementation of a Geis for the Genomic Diagnosis using the SILE Methodology. Case Study: Congenital Cataract

Manuel Navarrete-Hidalgo, José Fabián Reyes Román, Óscar Pastor López
2018 Proceedings of the 13th International Conference on Evaluation of Novel Approaches to Software Engineering  
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
more » ... pe 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.
doi:10.5220/0006705802670274 dblp:conf/enase/Navarrete-Hidalgo18 fatcat:t66gj2go2ng5zfl5kdpg7wyaxi