a catalog of biological databases
|Description:||he 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.|
|University/Institution:||Aix Marseille University|
|Contact name (PI/Team):||Gwenaëlle Collod-Beroud|
|Contact email (PI/Helpdesk):||email@example.com|
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. [PMID: 17935258]
The implication of mutations in the TGFBR2 gene, known to be involved in cancers, in Marfan syndrome (MFS) and later in Loeys-Dietz syndrome (LDS) and Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) gives a new example of the complexity of one gene involved in multiple diseases. To date, known TGFBR2 mutations are not disease-specific and many mutations have to be accumulated before genotype-phenotype relationships emerge. To facilitate mutational analysis of the TGFBR2 gene, a locus-specific database has been set up with the Universal Mutation Database (UMD) software. The version of the computerized database contains 85 entries. A total of 12 mutations are reported to be involved in MFS, six in incomplete MFS, 30 in LDS type I, 10 in LDS type II, seven in TAAD2, and 20 in various cancers. The database is accessible online at http://www.umd.be (last accessed: 3 July 2007).