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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 leading mostly to monogenic disorders and pharmacogenomics biomarkers. The database also records the...

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Autores principales: Viennas, Emmanouil, Komianou, Angeliki, Mizzi, Clint, Stojiljkovic, Maja, Mitropoulou, Christina, Muilu, Juha, Vihinen, Mauno, Grypioti, Panagiota, Papadaki, Styliani, Pavlidis, Cristiana, Zukic, Branka, Katsila, Theodora, van der Spek, Peter J., Pavlovic, Sonja, Tzimas, Giannis, Patrinos, George P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210643/
https://www.ncbi.nlm.nih.gov/pubmed/27924022
http://dx.doi.org/10.1093/nar/gkw949
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author Viennas, Emmanouil
Komianou, Angeliki
Mizzi, Clint
Stojiljkovic, Maja
Mitropoulou, Christina
Muilu, Juha
Vihinen, Mauno
Grypioti, Panagiota
Papadaki, Styliani
Pavlidis, Cristiana
Zukic, Branka
Katsila, Theodora
van der Spek, Peter J.
Pavlovic, Sonja
Tzimas, Giannis
Patrinos, George P.
author_facet Viennas, Emmanouil
Komianou, Angeliki
Mizzi, Clint
Stojiljkovic, Maja
Mitropoulou, Christina
Muilu, Juha
Vihinen, Mauno
Grypioti, Panagiota
Papadaki, Styliani
Pavlidis, Cristiana
Zukic, Branka
Katsila, Theodora
van der Spek, Peter J.
Pavlovic, Sonja
Tzimas, Giannis
Patrinos, George P.
author_sort Viennas, Emmanouil
collection PubMed
description 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.
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spelling pubmed-52106432017-01-05 Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies Viennas, Emmanouil Komianou, Angeliki Mizzi, Clint Stojiljkovic, Maja Mitropoulou, Christina Muilu, Juha Vihinen, Mauno Grypioti, Panagiota Papadaki, Styliani Pavlidis, Cristiana Zukic, Branka Katsila, Theodora van der Spek, Peter J. Pavlovic, Sonja Tzimas, Giannis Patrinos, George P. Nucleic Acids Res Database Issue 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. Oxford University Press 2017-01-04 2016-10-18 /pmc/articles/PMC5210643/ /pubmed/27924022 http://dx.doi.org/10.1093/nar/gkw949 Text en © The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Database Issue
Viennas, Emmanouil
Komianou, Angeliki
Mizzi, Clint
Stojiljkovic, Maja
Mitropoulou, Christina
Muilu, Juha
Vihinen, Mauno
Grypioti, Panagiota
Papadaki, Styliani
Pavlidis, Cristiana
Zukic, Branka
Katsila, Theodora
van der Spek, Peter J.
Pavlovic, 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
title Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_full Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_fullStr Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_full_unstemmed Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_short Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_sort expanded national database collection and data coverage in the findbase worldwide database for clinically relevant genomic variation allele frequencies
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210643/
https://www.ncbi.nlm.nih.gov/pubmed/27924022
http://dx.doi.org/10.1093/nar/gkw949
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