TY  - JOUR
AU  - Viennas, Emmanouil
AU  - Komianou, Angeliki
AU  - Mizzi, Clint
AU  - Stojiljković, Maja
AU  - Mitropoulou, Christina
AU  - Muilu, Juha
AU  - Vihinen, Mauno
AU  - Grypioti, Panagiota
AU  - Papadaki, Styliani
AU  - Pavlidis, Cristiana
AU  - Zukić, Branka
AU  - Katsila, Theodora
AU  - van der Spek, Peter J.
AU  - Pavlović, Sonja
AU  - Tzimas, Giannis
AU  - Patrinos, George P.
PY  - 2017
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1048
AB  - 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 FIND-base, as a key resource for Genomic Medicine applications.
PB  - Oxford Univ Press, Oxford
T2  - Nucleic Acids Research
T1  - Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
EP  - D853
IS  - D1
SP  - D846
VL  - 45
DO  - 10.1093/nar/gkw949
ER  - 

@article{
author = "Viennas, Emmanouil and Komianou, Angeliki and Mizzi, Clint and Stojiljković, Maja and Mitropoulou, Christina and Muilu, Juha and Vihinen, Mauno and Grypioti, Panagiota and Papadaki, Styliani and Pavlidis, Cristiana and Zukić, Branka and Katsila, Theodora and van der Spek, Peter J. and Pavlović, Sonja and Tzimas, Giannis and Patrinos, George P.",
year = "2017",
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 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 FIND-base, as a key resource for Genomic Medicine applications.",
publisher = "Oxford Univ Press, Oxford",
journal = "Nucleic Acids Research",
title = "Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies",
pages = "D853-D846",
number = "D1",
volume = "45",
doi = "10.1093/nar/gkw949"
}

Viennas, E., Komianou, A., Mizzi, C., Stojiljković, M., Mitropoulou, C., Muilu, J., Vihinen, M., Grypioti, P., Papadaki, S., Pavlidis, C., Zukić, B., Katsila, T., van der Spek, P. J., Pavlović, S., Tzimas, G.,& Patrinos, G. P.. (2017). Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. in Nucleic Acids Research
Oxford Univ Press, Oxford., 45(D1), D846-D853.
https://doi.org/10.1093/nar/gkw949

Viennas E, Komianou A, Mizzi C, Stojiljković M, Mitropoulou C, Muilu J, Vihinen M, Grypioti P, Papadaki S, Pavlidis C, Zukić B, Katsila T, van der Spek PJ, Pavlović S, Tzimas G, Patrinos GP. Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. in Nucleic Acids Research. 2017;45(D1):D846-D853.
doi:10.1093/nar/gkw949 .

Viennas, Emmanouil, Komianou, Angeliki, Mizzi, Clint, Stojiljković, Maja, Mitropoulou, Christina, Muilu, Juha, Vihinen, Mauno, Grypioti, Panagiota, Papadaki, Styliani, Pavlidis, Cristiana, Zukić, Branka, Katsila, Theodora, van der Spek, Peter J., Pavlović, Sonja, Tzimas, Giannis, Patrinos, George P., "Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies" in Nucleic Acids Research, 45, no. D1 (2017):D846-D853,
https://doi.org/10.1093/nar/gkw949 . .