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Title: FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
Authors: van Baal, Sjozef
Kaimakis, Polynikis
Phommarinh, Manyphong
Koumbi, Daphne
Cuppens, Harry
Riccardino, Francesca
Macek, Milan
Scriver, Charles R
Patrinos, George P # ×
Issue Date: Jan-2007
Publisher: Oxford univ press
Series Title: Nucleic acids research vol:35 pages:D690-D695
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. 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 mutation data collection and retrieval and can serve not only as a valuable online tool for also as a non-profit model for sustainable database funding, in the form of a 'database-journal'.
URI: 
ISSN: 0305-1048
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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