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  1. FINDBase (View Publication)
    Full Name of the Resource : Frequencies of INherited Disorders
    Resource Category : Databases -> Human Genes and Diseases -> General Polymorphism Databases

    Brief Description : 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 molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a ?database-journal?.

    Institute/s :
    Erasmus MC, Faculty of Medicine and Health Sciences, MGC-Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    McGill University, Montreal Children\'s Hospital Research Institute, Montreal, Canada
    Fox Chase Cancer Center, Human Genetics Division, Philadelphia, PA, USA
    Centre for Human Genetics, Catholic University of Leuven, Campus Gasthuisberg, Leuven, Belgium
    Dipartimento di Genetica, Biologia, Biochimica, Universit? di Torino, Torino, Italy
    Charles University, University Hospital Motol and 2nd School of Medicine, Institute of Biology and Medical Genetics, Department of Molecular Genetics and National Cystic Fibrosis Centre, Prague, Czech Republic
    Asclepion Genetics, Lausanne, Switzerland

    Country : Netherlands; Canada; USA; Belgium; Italy; Switzerland

    Associated Institutes :

    • Department of Pharmacy, School of Health Sciences
    • Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, Patras, Greece
    • Erasmus MC, Faculty of Medicine and Health Sciences, MGC-Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    • Center for Applied Proteomics and Molecular Medicine, George Mason University Manassas, VA, USA
    • Department of Applied Informatics in Management & Finance, Faculty of Management and Economics, Technological Educational Institute of Messolonghi, Messolonghi, Greece

    Associated Country : Greece; Netherlands


    Authors/Contributors : Patrinos G.P.
    Contact Email : g.patrinos@erasmusmc.nl
    Year : 2011
    Language : English