Mutation Databases

Abstract

In the 1970s began the organization of medical knowledge in databases. Twenty years later, few groups understood the importance of mutations in all areas of health care and the need to create mutation databases. To classify, interpret and develop this knowledge, two complementary approaches have been developed: the collection of mutations from a large set of genes (core database) and the collection of mutations from a single gene (Locus Specific Database). During the last decades the developments of technology, especially the availability of large scale sequencing, led to the collection of tens of thousands of mutations and polymorphisms. The mass of data is now sufficient to address fundamental questions such as the predictive medicine. Concomitantly new bioinformatics tools are developed to evaluate the pathogenic impact of a given mutation or its consequence on the 3D structure of the protein and to identify cellular signals such as Exonic Splicing Enhancers and Exonic Splicing Silencers either disrupted or created by mutations. In the near future, tremendous progresses will be made to collect phenotypic information and will be of considerable importance for the development of new therapeutic strategies based on mutations such as the exon‐skipping or the premature termination codon read‐through.