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首页> 外文会议>International Conference on Evaluation of Novel Software Approaches to Software Engineering >Design and Implementation of a Geis for the Genomic Diagnosis using the SILE Methodology. Case Study: Congenital Cataract
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Design and Implementation of a Geis for the Genomic Diagnosis using the SILE Methodology. Case Study: Congenital Cataract

机译：使用SILE方法的基因组诊断的设计与实现Geis。案例研究：先天性白内障

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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.
机译：生物医学和疾病预防诊断开放了一系列研究，如所提出的解决方案。然而，人类在基因组内含有的信息是与其生物信息的加工和管理有关的巨大挑战，其成功将直接取决于通过应用概念建模技术来产生的结构。在这种情况下，该研究工作提出了“提取变换负荷”原型的开发，其中可以从没有直接交互的多个科学储存库获得生物信息。因此，提出的人类基因组（CMHG）的概念模型用作域的整体表示，目的是产生基因组信息系统（GEIS），其促进了基因组中所有现有知识的有效管理为了增强“精确药”（PM）。这项工作定义了用于预防诊断“先天性白内障”的Geis，其条件与年龄和生活方式无关，而是对每个人的遗传组成部分无关。通过这种方式，我们可以提供个性化治疗的早期诊断和可能的手段。

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