Modeling Life: A Conceptual Schema-centric Approach to Understand the Genome

Abstract

Programs are historically the basic notion in Software Engineering, which represents the final artifact to be executed in a machine. These programs have been created by humans, using a silicon-based code, whose final components use a binary code represented by 0s and 1s. If we look at life as a program with a DNA-based ge- netic code with a final representation that uses four essential units (A, C, G and T), one challenging question emerges. Can we establish a correspondence between life -from a genomic perspective- and programs -from a Software Engineering perspec- tive? This paper assumes a positive answer to this question and shows how genomic can benefit from Information Systems Engineering by applying conceptual model- ing to determine those relevant data that life represents in order to manage them accordingly, with special emphasis in the health domain. The main contributions fo- cus on i) a concrete materialization of a Conceptual Schema of the Human Genome, ii) the need of having a method to provide a methodological guidance concerning genome data management, and iii) the importance of assessing data quality when all generated data are going to be used in critical domains such as health and Precision Medicine.