Facing the challenges of Genome Information Systems: A variation analysis Prototype

Abstract

In Bioinformatics there is a lack of software tools that fit with the requirements demanded by biologists. For instance, when a DNA sample is sequenced, a lot of work have to be performed manually and several tools are used. The application of Information Systems (IS) principles into the development of bioinformatics tools opens a new interesting research path. One of the most promising approaches is the use of conceptual models in order to precisely define how genomic data is represented into an IS. This work introduces how to build a Genome Information System (GIS) using these principles. As a first step to achieve this goal, a conceptual model to formally describe genomic mutations is presented. In addition, as a proof of concept of this approach, a variation analysis prototype has been implemented using this conceptual model as a development core. © 2011 Springer-Verlag Berlin Heidelberg.