FINDbase: A relational database recording frequencies of genetic defects leading to inherited disorders worldwide
Frequency of INherited Disorders database (FINDbase) (http://www.findbase.org) is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. 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. Databaseaccess is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a 'database-journal'.
|Persistent URL||dx.doi.org/10.1093/nar/gkl934, hdl.handle.net/1765/36149|
van Baal, S., Kaimakis, P., Phommarinh, M., Koumbi, D., Cuppens, H., Riccardino, F., … Patrinos, G.P.. (2007). FINDbase: A relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Research, 35(SUPPL. 1). doi:10.1093/nar/gkl934