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Diagnostic Mutation Database > enter DMuDB
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In October 2009 a new enquiry service for scientists worldwide was launched, enabling scientists and clinical geneticists to enquire after variant data potentially available in the Diagnostic Mutation Database.
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The Diagnostic Mutation Database (DMuDB) repository provides a route for sharing mutation data within and between UK diagnostic laboratories to support genetic testing services for patients. Diagnostic molecular genetics laboratories in the UK analyse and report hundreds of mutations per year for a range of inherited diseases, some of them very rare. However, the mutation data that they generate are not generally added to the many online databases which exist for single or multiple genes, or reported in journal publications.
Currently we have over 6,000 records for 83 genes, containing over 12,000 individual variants. Thus far, we have specifically targeted BRCA1 and 2 and HNPCC and FAP data. For BRCA1 and 2, over 850 unique variants are listed of which 50% do not appear in the leading public database Breast Cancer Information Core (BIC). We are concentrating on increasing data submission and are currently completing entry of HNPCC and FAP datasets. Data collections for Retinoblastoma, Angelmans Syndrome, Tuberous Sclerosis and Neurofibromatosis are to follow. More target genes will be provided for after consultation with the genetics community.
View here for which gene data is currently available in DMuDB. This list is updated every time a laboratory submits data for a gene which is not yet reported.
Accessing the data
DMuDB data are accessed using either a text-based editor which allows data to be submitted and curated, or through a graphical browser which is the preferred method for viewing data and also allows access to other mutation databases. Both methods require a DMuDB username and password to be obtained from the DMuDB curator. Please note that access to the database is limited to UK professionals only.
Please read the notes on acceptable use of the repository before starting to use it. Note that the data in the repository is to be used for supporting diagnostic work only, is confidential, and belongs to the laboratory that originally submitted it.
Interface Changes
Changes to the DMuDB user interface were launched in July 2009, benefitting in particular submission of new referrals and the visualisation of variant information is shown on a record.
In addition, we have developed new screencasts which provide a brief (3 min) guidance each for using specific applications such as submitting variant data, anonymising patient IDs and browsing for Gene Data.
The screencasts are available through clicking on the links in the right column of this page.
