About the resource
Type of resource: Mutation database
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The human genome contains about 40,000 genes and presently only 3,000 are known to be implicated in genetic diseases. In the near future, the entire sequence of the human genome (Human Genome Project) will be available and the development of new methods for point mutation detection will lead to a huge increase in the identification of genes and their mutations associated with genetic diseases as well as cancers. The collection of these mutations will be critical for researchers and clinicians to establish genotype/phenotype correlations. Other fields such as molecular epidemiology will also be developed using these new data. Consequently, the future lies not in simple repositories of locus-specific mutations but in dynamic databases linked to various computerized tools for their analysis and that can be directly queried on-line. To meet this goal, we devised a generic software called UMD (Universal Mutation Database). It was developed as a generic software to create locus-specific databases (LSDBs) with the 4th Dimension® package from 4D. The UMD software includes an optimized structure to assist and secure data entry and to allow the input of a wide range of clinical data. In addition various analyzing tools have been specifically designed to assist clinicians (phenotype-genotype correlations…), geneticists (distribution and frequency of mutations…) and research biologists (structural domains, molecular epidemiology…). Thanks to the flexible structure of the UMD software, it has been successfully adapted to many genes either involved in cancer (APC, BRCA1, BRCA2, TP53, RB1, MEN1, SUR1, VHL, WT1…) or in genetic diseases (FBN1, LDLR, DMD, VLCAD, MCAD, LMNA, EMD, FKRP, SGCG, SGCA, ATP7B…). This tool is freely available. To download the software please visit the download policy webpage.