Diagen: A model-based bioinformatic tool for genetic analysis

Abstract

Geneticists that use software tools to carry out their diagnosis claim that current solutions do not fulfill completely their requirements. From an Information System perspective, this issue is a consequence of the lack of formal data descriptions, which has led to genetic repositories full of heterogeneous data and inconsistencies. Simultaneously, the same lack of formalization is perceived in software tools for genetic data analysis. As a solution, we provide a unified view that formalizes genetic concepts through the definition of a Conceptual Schema of the Human Genome (CSHG). In order to demonstrate the benefits of this approach, a Web application for genetic analysis, named Diagen, has been developed applying the aforementioned CSHG: Diagen is a model-based tool since each of its software components is a projection of the CSHG proposed.