UMD (Universal Mutation Database): A Generic software to build and analyzelocus-specific databases

The human genome is thought to contain about 80,000 genes and presently onl y 3,000 are known to be implicated in genetic diseases. In the near future, the entire sequence of the human genome will be available and the developm ent of new methods for point mutation detection will lead to a huge increas e in the identification of genes and their mutations associated with geneti c diseases as well as cancers, which is growing in frequency in industrial states. The collection of these mutations will be critical for researchers and clinicians to establish genotype/phenotype correlations. Other fields s uch 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 data bases linked to various computerized tools fo r their analysis and that can be directly queried on-line. To meet this goa l, 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 4(th) Dimension(R) package from ACI. This software includes an optimized structure to assist and secure data entry and to allow the in put of various clinical data. Thanks to the flexible structure of the UMD s oftware, it has been successfully adapted to nine genes either involved in cancer (APC, P53, RB1, MEN1, SUR1, VHL, and WT1) or in genetic diseases (FB N1 and LDLR). Four new LSDBs are under construction (VLCAD, MCAD, KIR6, and COL4A5). Finally, the data can be transferred to core databases. Hum Mutat 15:86-94, 2000. (C) 2000 Wiley-Liss, Inc.