title: FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.
abstract: 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'.
authors.affiliation: Erasmus MC, MGC-Department of Cell Biology and Genetics, Rotterdam, The Netherlands.
authors.forename: Sjozef
authors.initials: S
authors.lastname: van Baal
authors.forename: Polynikis
authors.initials: P
authors.lastname: Kaimakis
authors.forename: Manyphong
authors.initials: M
authors.lastname: Phommarinh
authors.forename: Daphne
authors.initials: D
authors.lastname: Koumbi
authors.forename: Harry
authors.initials: H
authors.lastname: Cuppens
authors.forename: Francesca
authors.initials: F
authors.lastname: Riccardino
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.forename: Charles R
authors.initials: CR
authors.lastname: Scriver
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
mesh_terms: D030541:Databases, Genetic; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D014943:Global Health; D006801:Humans; D020407:Internet; D009154:Mutation; D014584:User-Computer Interface