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

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, acc...

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Autores principales: Papadopoulos, Petros, Viennas, Emmanouil, Gkantouna, Vassiliki, Pavlidis, Cristiana, Bartsakoulia, Marina, Ioannou, Zafeiria-Marina, Ratbi, Ilham, Sefiani, Abdelaziz, Tsaknakis, John, Poulas, Konstantinos, Tzimas, Giannis, Patrinos, George P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964978/
https://www.ncbi.nlm.nih.gov/pubmed/24234438
http://dx.doi.org/10.1093/nar/gkt1125
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author Papadopoulos, Petros
Viennas, Emmanouil
Gkantouna, Vassiliki
Pavlidis, Cristiana
Bartsakoulia, Marina
Ioannou, Zafeiria-Marina
Ratbi, Ilham
Sefiani, Abdelaziz
Tsaknakis, John
Poulas, Konstantinos
Tzimas, Giannis
Patrinos, George P.
author_facet Papadopoulos, Petros
Viennas, Emmanouil
Gkantouna, Vassiliki
Pavlidis, Cristiana
Bartsakoulia, Marina
Ioannou, Zafeiria-Marina
Ratbi, Ilham
Sefiani, Abdelaziz
Tsaknakis, John
Poulas, Konstantinos
Tzimas, Giannis
Patrinos, George P.
author_sort Papadopoulos, Petros
collection PubMed
description 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.
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spelling pubmed-39649782014-03-25 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 Patrinos, George P. Nucleic Acids Res VI. Genomic variation, diseases and drugs 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. Oxford University Press 2014-01-01 2013-11-14 /pmc/articles/PMC3964978/ /pubmed/24234438 http://dx.doi.org/10.1093/nar/gkt1125 Text en © The Author(s) 2013. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/3.0/ 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 reuse, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle VI. Genomic variation, diseases and drugs
Papadopoulos, Petros
Viennas, Emmanouil
Gkantouna, Vassiliki
Pavlidis, Cristiana
Bartsakoulia, Marina
Ioannou, Zafeiria-Marina
Ratbi, Ilham
Sefiani, Abdelaziz
Tsaknakis, John
Poulas, Konstantinos
Tzimas, Giannis
Patrinos, George P.
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_full Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_fullStr Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_full_unstemmed Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_short Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
title_sort developments in findbase worldwide database for clinically relevant genomic variation allele frequencies
topic VI. Genomic variation, diseases and drugs
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964978/
https://www.ncbi.nlm.nih.gov/pubmed/24234438
http://dx.doi.org/10.1093/nar/gkt1125
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