title: Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
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.
authors.affiliation: University of Patras, Faculty of Engineering, Department of Computer Engineering and Informatics, GR-26504, Patras, Greece.
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Viennas
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece.
authors.forename: Angeliki
authors.initials: A
authors.lastname: Komianou
authors.affiliation: Erasmus University Medical Center, Faculty of Medicine and Health Sciences, Department of Bioinformatics, NL-3015 CN, Rotterdam, The Netherlands.|University of Malta, Faculty of Medicine and Surgery, Department of Physiology and Biochemistry, MSD 2090, Malta.
authors.forename: Clint
authors.initials: C
authors.lastname: Mizzi
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Laboratory of Molecular Biomedicine, 11010, Belgrade, Serbia.
authors.forename: Maja
authors.initials: M
authors.lastname: Stojiljkovic
authors.affiliation: The Golden Helix Foundation, WC2N 5AP, London, UK.
authors.forename: Christina
authors.initials: C
authors.lastname: Mitropoulou
authors.affiliation: Institute for Molecular Medicine Finland (FIMM), University of Helsinki, FI-00014, Helsinki, Finland.
authors.forename: Juha
authors.initials: J
authors.lastname: Muilu
authors.affiliation: Department of Experimental Medical Science, Lund University, SE-22100, Lund, Sweden.
authors.forename: Mauno
authors.initials: M
authors.lastname: Vihinen
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece.
authors.forename: Panagiota
authors.initials: P
authors.lastname: Grypioti
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece.
authors.forename: Styliani
authors.initials: S
authors.lastname: Papadaki
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece.
authors.forename: Cristiana
authors.initials: C
authors.lastname: Pavlidis
authors.affiliation: University of Malta, Faculty of Medicine and Surgery, Department of Physiology and Biochemistry, MSD 2090, Malta.
authors.forename: Branka
authors.initials: B
authors.lastname: Zukic
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece.
authors.forename: Theodora
authors.initials: T
authors.lastname: Katsila
authors.affiliation: Erasmus University Medical Center, Faculty of Medicine and Health Sciences, Department of Bioinformatics, NL-3015 CN, Rotterdam, The Netherlands.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: van der Spek
authors.affiliation: University of Malta, Faculty of Medicine and Surgery, Department of Physiology and Biochemistry, MSD 2090, Malta.
authors.forename: Sonja
authors.initials: S
authors.lastname: Pavlovic
authors.affiliation: Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, GR-30020, Patras, Greece.
authors.forename: Giannis
authors.initials: G
authors.lastname: Tzimas
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece gpatrinos@upatras.gr.|Erasmus University Medical Center, Faculty of Medicine and Health Sciences, Department of Bioinformatics, NL-3015 CN, Rotterdam, The Netherlands.
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
mesh_terms: D000483:Alleles; D030541:Databases, Genetic; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D023281:Genomics / Q000379:methods*; D006801:Humans; D010597:Pharmacogenetics; D012984:Software; D064878:Web Browser