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As molecular genetic testing and electronic healthcare records become increasingly common features of modern medical practice, there is a need to integrate information in genetic databases to establish a detailed understanding of how genome sequence differences impact on human health.
Frequency of INherited Disorders database (FINDbase) is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders and pharmacogenomic markers worldwide. The initial information is derived from the published literature, locus-specific databases, genetic disease consortia and most importantly direct submissions from laboratories and individual researchers documented against their unique ResearcherIDs. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations, based on PivotViwer and Silverlight technology. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Database access is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based genome variation data collection and retrieval and can serve as a valuable online tool for molecular genetic testing of inherited disorders. Also, its integration with Human Genomics and Proteomics, the online open-access international scientific journal stands as an example for a non-profit model for sustainable database funding, in the form of a ‘database-journal’.
