Conceptual Modelling of Genotype and Phenotype Information.

The exponential growth of available genomic data could allow researchers to examine the relationships between genetic variation and disease development in an individual. Representing this data in multiple formats and several heterogeneous repositories hinders the identification of clinically valid genotype and phenotype relationships and could lead to misdiagnosis. The use of conceptualization techniques can address these problems due to the large volume of data dispersed in several databases. In this paper, we propose a conceptual model of genotypic and phenotypic information by integrating other information such as vital signs or patient history. This model permits information to be stored and processed by focusing on data that is deemed relevant and provides biologists with efficient information retrieval. An example of data loading which is related to heart failure is also presented, to demonstrate its application in a real context.