Conceptual Modeling of Human Genome Mutations - A Dichotomy Between what we Have and What we Should Have

It is well-known in the bioinformatics domain that the millions of mutations and polymorphisms that occur in human populations are potential predictors of disease and any other type of human health related problems. Finding sound strategies for going from the Genotype to the Phenotype is probably the main challenge of the modern bioinformatics. Only with the sound knowledge provided by the IS theory, a systematic approach to large-scale analysis of Genotype-Phenotype correlations can be developed. The conceptual expressiveness of a well-known and widely-accepted database that stores the current information about genome mutations, Human Gene Mutation Database, is compared with the information that is relevant from a purely conceptual modelling perspective, and the result from this comparison is reported.