Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies

Papadopoulos, Petros, Viennas, Emmanouil, Gkantouna, Vassiliki, Pavlidis, Cristiana, Bartsakoulia, Marina, Ioannou, Zafeiria-Marina, Ratbi, Ilham, Sefiani, Abdelaziz, Tsaknakis, John, Poulas, Konstantinos, Tzimas, Giannis and Patrinos, George P. (2014) Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Nucleic Acids Research, 42 (D1) . D1020-D1026. ISSN 0305-1048 [Article] (doi:10.1093/nar/gkt1125)

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Abstract

FINDbase (http://www.findbase.org) aims to document frequencies of clinically relevant genomic variations, namely causative mutations and pharmacogenomic markers, worldwide. Each database record includes the population, ethnic group or geographical region, the disorder name and the related gene, accompanied by links to any related databases and the genetic variation together with its frequency in that population. Here, we report, in addition to the regular data content updates, significant developments in FINDbase, related to data visualization and querying, data submission, interrelation with other resources and a new module for genetic disease summaries. In particular, (i) we have developed new data visualization tools that facilitate data querying and comparison among different populations, (ii) we have generated a new FINDbase module, built around Microsoft’s PivotViewer (http://www.getpivot.com) software, based on Microsoft Silverlight technology (http://www.silverlight.net), that includes 259 genetic disease summaries from five populations, systematically collected from the literature representing the documented genetic makeup of these populations and (iii) the implementation of a generic data submission tool for every module currently available in FINDbase.

Item Type: Article
Research Areas: A. > School of Science and Technology > Natural Sciences
Item ID: 29717
Notes on copyright: © The Author(s) 2013. Published by Oxford University Press.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), 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 13:37
Last Modified: 20 Aug 2020 23:19
URI: https://eprints.mdx.ac.uk/id/eprint/29717

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