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 and Patrinos, George 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. ISSN 0305-1048 (doi:10.1093/nar/gkw949)

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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 above mentioned updates further enhance the impact of FINDbase, as a key resource for Genomic Medicine applications.

Item Type: Article
Research Areas: A. > School of Science and Technology > Natural Sciences
Item ID: 29712
Notes on copyright: © The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.
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.
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Depositing User: Cristiana Pavlidis
Date Deposited: 24 Apr 2020 13:54
Last Modified: 20 Aug 2020 23:13
URI: https://eprints.mdx.ac.uk/id/eprint/29712

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