2014 Volume 29 Issue 3 Pages 311-327
Gathering information using a computer has become more and more important as a component of research studies in life science. Recently, ontology provides us with one of the most important means of processing varieties of data and representing knowledge models. Currently, several biomedical ontologies have been constructed with the aim of integrating a variety of information produced by different fields of biology. Therefore, development of a common model/ontology for genes is one of the key issues in bioinformatics studies. However, an ontology fully representing multiple aspects of a gene is still not available. In this study, we dissected the biological roles of a gene and built an ontology that represents a consistent data model of the basic concepts of genetics, including genes, alleles, nucleic acid molecules, locus, genotype and phenotype. This is the first ontology to provide a foundation for the construction of a semantic data model for the concept of gene applicable to broad fields of life science including genetics, molecular biology, and population genetics.