International access to diagnostic mutation database

22 October 2009

The UK Diagnostic Mutation Database (DMuDB) is an electronic data repository that facilitates information exchange about genetic variants associated with inherited diseases between UK diagnostic genetics laboratories. DMuDB is hosted by the National Genetics Reference Laboratory Manchester, and is used by National Health Service (NHS) scientists and clinicians who have identified novel genetic variants, to see whether or not these have been previously identified by others and what their significance may be. Not all such variants are published in the literature or other online databases; for example, DMuDB includes more than 850 unique variants in the BRCA1 and BRCA2 genes, half of which reportedly are not recorded in the Breast Cancer Information Core, a mutation database hosted by the US National Human Genome Research Institute (NHGRI). The DMuDB currently includes information about more than 12,000 individual variants in a total of 83 genes.

Now a new DMuDB service will allow clinical geneticists throughout the world to query data. Individuals 'with a legitimate interest' can query whether a given variant is recorded in DMuDB; if it is, they will be put in contact with the appropriate NHS laboratory (see press release). In the longer term, there are plans to link DMuDB data with other major variant database projects to further widen access.

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