Nucleic Acids Research Advance Access originally published online on November 28, 2006
Nucleic Acids Research 2007 35(Database issue):D690-D695; doi:10.1093/nar/gkl934
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Nucleic Acids Research, 2007, Vol. 35, Database issue D690-D695
© 2006 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Articles |
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
1 Erasmus MC, MGC-Department of Cell Biology and Genetics Rotterdam, The Netherlands 2 Montreal Children's Hospital Research Institute, McGill University Montreal, Canada 3 Fox Chase Cancer Center, Human Genetics Division Philadelphia, PA, USA 4 Centre for Human Genetics, Katholic University of Leuven Campus Gasthuisberg, Leuven, Belgium 5 Dipartimento di Genetica, Biologia, Biochimica, Università di Torino Torino, Italy 6 Department of Molecular Genetics, Institute of Biology and Medical Genetics–National Cystic Fibrosis Centre, University Hospital Motol and Second School of Medicine of Charles University Prague, Czech Republic 7 Asclepion Genetics Lausanne, Switzerland
*To whom correspondence should be addressed. Tel: +31 10 408 7454; Fax: +31 10 408 9468; Email: g.patrinos{at}erasmusmc.nl
Received July 12, 2006. Revised October 13, 2006. Accepted October 13, 2006.
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’.