Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
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 leadingmostly tomonogenic 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/ethnicmutation 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.
|Persistent URL||dx.doi.org/10.1093/nar/gkw949, hdl.handle.net/1765/98804|
|Journal||Nucleic Acids Research|
|Grant||This work was funded by the European Commission 7th Framework Programme; grant id fp7/200754 - Genotype-To-Phenotype Databases: A Holistic Solution (GEN2PHEN), This work was funded by the European Commission 7th Framework Programme; grant id h2020/668353 - Ubiquitous Pharmacogenomics (U-PGx): Making actionable pharmacogenomic data and effective treatment optimization accessible to every European citizen (U-PGx)|
Viennas, E, Komianou, A. (Angeliki), Mizzi, C, Stojiljkovic, M, Mitropoulou, C, Muilu, J. (Juha), … Patrinos, G.P. (2017). Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Nucleic Acids Research, 45(D1), D846–D853. doi:10.1093/nar/gkw949