Toward an Effective Medicine of Precision by Using Conceptual Modelling of the Genome

摘要

The continuous improvement in our understanding of the human genome is leading to an increasing viable and effective Precision Medicine. Its intention is to provide a personalized solution to any individual health problem. Nevertheless, three main issues must be considered to make Precision Medicine a reality: i) the understanding of the huge amount of genomic data, spread out in hundreds of genome data sources, with different formats and contents, whose semantic interoperability is a must; ii) the development of information systems intended to guide the search of relevant genomic repositories related with a disease, the identification of significant information for its prevention, diagnosis and/or treatment and its management in an efficient software platform; iii) the high variability in the quality of the publicly available information. This paper presents a conceptual framework for solving these problems by i) using a precise conceptual schema of the human genome, and ii) introducing a method to search, identify, load and adequately interpret the required data, assuring its quality during the entire process.