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• W2532819553 abstract "FINDbase (http://www.findbase.org) is a comprehensive data repository that records the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants leading mostly to monogenic disorders and pharmacogenomics biomarkers. The database also records the incidence of rare genetic diseases in various populations, all in well-distinct data modules. Here, we report extensive data content updates in all data modules, with direct implications to clinical pharmacogenomics. Also, we report significant new developments in FINDbase, namely (i) the release of a new version of the ETHNOS software that catalyzes development curation of national/ethnic genetic databases, (ii) the migration of all FINDbase data content into 90 distinct national/ethnic mutation databases, all built around Microsoft's PivotViewer (http://www.getpivot.com) software (iii) new data visualization tools and (iv) the interrelation of FINDbase with DruGeVar database with direct implications in clinical pharmacogenomics. The abovementioned updates further enhance the impact of FINDbase, as a key resource for Genomic Medicine applications." @default.
• W2532819553 created "2016-10-28" @default.
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• W2532819553 date "2016-10-18" @default.
• W2532819553 modified "2023-10-15" @default.
• W2532819553 title "Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies" @default.
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• W2532819553 doi "https://doi.org/10.1093/nar/gkw949" @default.
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