Friday, 03 24th

Last updateTue, 30 Aug 2016 11am

As molecular genetic testing and electronic healthcare records become increasingly common features of modern medical practice, there is a need to integrate information in genetic databases to establish a detailed understanding of how genome sequence differences impact on human health.

Frequency of INherited Disorders database (FINDbase) is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders and pharmacogenomic markers worldwide. The initial information is derived from the published literature, locus-specific databases, genetic disease consortia and most importantly direct submissions from laboratories and individual researchers documented against their unique ResearcherIDs. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations, based on PivotViwer and Silverlight technology. 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 genome variation data collection and retrieval and can serve as a valuable online tool for molecular genetic testing of inherited disorders. Also, its integration with Human Genomics and Proteomics, the online open-access international scientific journal stands as an example for a non-profit model for sustainable database funding, in the form of a ‘database-journal’.

The National/Ethnic Genetic Databases are mutation depositories, recording extensive information over the described genetic heterogeneity of an ethnic group or population. Until now, there are several National/Ethnic Genetic databases, many of which are developed using the ETHNOS software, an off-the-shelf bioinformatics suite developed in 2003 by the Golden Helix Institute of Biomedical Research to facilitate development and curation of National/Ethnic Genetic and Mutation frequency databases. These databases can be exploited as a central repository for the genetic services in any given country. Since 2012, the ETHNOS software has been upgraded with new functionalities and currently several National/Ethnic Mutation Databases are either being migrated to the new software or being developed.

Please click on the following links to access the content of the National/Ethnic Genetic databases currently available in the ETHNOS Database:

 

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As molecular genetic testing and electronic healthcare records become increasingly common features of modern medical practice, there is a need to integrate information in genetic databases to establish a detailed understanding of how genome sequence differences impact on human health.

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