FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide

被引:36
作者
van Baal, Sjozef
Kaimakis, Polynikis
Phommarinh, Manyphong
Koumbi, Daphne
Cuppens, Harry
Riccardino, Francesca
Macek, Milan, Jr.
Scriver, Charles R.
Patrinos, George P. [1 ]
机构
[1] Erasmus MC, MGC, Dept Cell Biol & Genet, Rotterdam, Netherlands
[2] McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3H 1P3, Canada
[3] Fox Chase Canc Ctr, Div Human Genet, Philadelphia, PA 19111 USA
[4] Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium
[5] Univ Turin, Dipartimento Genet Biol Biochim, Turin, Italy
[6] Charles Univ Prague, Sch Med 2, Prague, Czech Republic
[7] Univ Hosp Motol, Dept Mol Genet, Inst Biol & Med Genet, Natl Cyst Fibrosis Ctr, Prague, Czech Republic
[8] Asclep Genet, Lausanne, Switzerland
关键词
D O I
10.1093/nar/gkl934
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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'.
引用
收藏
页码:D690 / D695
页数:6
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