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The UMD central tool is designed to query multiple Locus Specific DataBases (LSDB) developed with the Universal Mutation Database® software (UMD). Because each LSDB contain molecular and clinical data from patients with a mutation in a specific gene, they are very useful for clinicians (phenotype-genotype correlations...), geneticists (distribution and frequency of mutations...) and research biologists (structural domains, molecular epidemiology...). Nevertheless, in some situations, only the combination of data from various databases may allow a comprehensive analysis.
For example if a clinician wants to search for a mutation in a patient with a dystrophinopathy associated to a mental retardation, he will need a quick overview of the incidence of these symptoms in the various genes involved in dystrophinopathies.
Similarly, a researcher who wants to study repeated sequences involved in the deletion process would like to have an overview of all deletions from various genes.
To adress these specific queries, we have designed the UMD central tool that can query simultaneously all UMD databases.