Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies

Emmanouil Viennas; Angeliki Komianou; Clint Mizzi; Maja Stojiljkovic; Christina Mitropoulou; Juha Muilu; Mauno Vihinen; Panagiota Grypioti; Styliani Papadaki; Cristiana Pavlidis; Branka Zukic; Theodora Katsila; Peter J van der Spek; Sonja Pavlovic; Giannis Tzimas; George P Patrinos

doi:10.1093/nar/gkw949

Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies

Nucleic Acids Res. 2017 Jan 4;45(D1):D846-D853. doi: 10.1093/nar/gkw949. Epub 2016 Oct 18.

Authors

Emmanouil Viennas¹, Angeliki Komianou², Clint Mizzi^{3

4}, Maja Stojiljkovic⁵, Christina Mitropoulou⁶, Juha Muilu⁷, Mauno Vihinen⁸, Panagiota Grypioti², Styliani Papadaki², Cristiana Pavlidis², Branka Zukic⁴, Theodora Katsila², Peter J van der Spek³, Sonja Pavlovic⁴, Giannis Tzimas⁹, George P Patrinos^{10

3}

Affiliations

¹ University of Patras, Faculty of Engineering, Department of Computer Engineering and Informatics, GR-26504, Patras, Greece.
² Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece.
³ Erasmus University Medical Center, Faculty of Medicine and Health Sciences, Department of Bioinformatics, NL-3015 CN, Rotterdam, The Netherlands.
⁴ University of Malta, Faculty of Medicine and Surgery, Department of Physiology and Biochemistry, MSD 2090, Malta.
⁵ Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Laboratory of Molecular Biomedicine, 11010, Belgrade, Serbia.
⁶ The Golden Helix Foundation, WC2N 5AP, London, UK.
⁷ Institute for Molecular Medicine Finland (FIMM), University of Helsinki, FI-00014, Helsinki, Finland.
⁸ Department of Experimental Medical Science, Lund University, SE-22100, Lund, Sweden.
⁹ Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, GR-30020, Patras, Greece.
¹⁰ Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece [email protected].

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles*
Databases, Genetic*
Gene Frequency*
Genetic Predisposition to Disease
Genetic Variation*
Genomics / methods*
Humans
Pharmacogenetics
Software
Web Browser