Wednesday, 07 23rd

Last updateThu, 13 Feb 2014 5pm

About FINDbase

Welcome to FINDbase worldwide, an online resource documenting frequencies of pathogenic genetic variations leading to inherited disorders in various populations worldwide. The initial data came from previously published reports as well as from unpublished information contributed from individual researchers prior of publication.

Since 2008, FINDbase has undergone a major upgrade and a substantial content update with the documentation of additional inherited disorders and a completely new set of pharmacogenomic markers. This information is available in two separate modules, namely Causative mutations and Pharmacogenomic markers.

The component services that comprise the updated FINDbase follow the service oriented architectural approach (SOA). Data content is freely available to the public and there are no registration requirements for data querying. The querying interface is based on a recently launched program by Microsoft, namely the PivotViewer based on Microsoft Silverlight technology, which offers useful tools for querying large datasets in multiple ways. The whole application provides an elegant, web-based multimedia interface for population-based variation data collection and retrieval. Database records include the population, the ethnic group and/or the geographic region, the gene name and its variation parameters, the rare allele frequencies, accompanied by links to the respective Online Mendelian Inheritance in Man (OMIM). All entries are recorded against their unique PubMed and ResearcherIDs.

Additionally to the PivotViewer, there is also an alternative visualization querying interface that we have recently built, based on the Flare visualization toolkit , providing two extra visualization types of the underlying data collection, namely the Gene and Mutation Map and the Mutation Dependency Graph, allowing users to query mutation distributions and correlations among populations.

Citing this resource:

  • Papadopoulos P, Viennas E, Gkantouna V, Pavlidis C, Bartsakoulia M, Ioannou ZM, Ratbi I, Sefiani A, Tsaknakis J, Poulas K, Tzimas G, Patrinos GP. Developments in FINDbase database for clinically relevant genomic variation allele frequencies. Nucleic Acids Res. 42(1), D1020-D102 (2014)

Previous publication:

  • Georgitsi M, Viennas E, Antoniou DI, Gkantouna V, van Baal S, Petricoin EF 3rd, Poulas K, Tzimas G, Patrinos GP. FINDbase: a worldwide database for genetic variation allele frequencies updated. Nucleic Acids Res. 39(Database issue), D926-D932 (2011)
  • van Baal S, Kaimakis P, Phommarinh M, Koumbi D, Cuppens H, Riccardino F, Macek M Jr, Scriver CR, Patrinos GP. FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res. 35(Database issue), D690-D695 (2007)

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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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