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FINDbase: a worldwide database for genetic variation allele frequencies updated

Frequency of INherited Disorders database (FIND base; http://www.findbase.org) records frequencies of causative genetic variations worldwide. Database records include the population and ethnic group or geographical region, the disorder name and the related gene, accompanied by links to any related e...

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Autores principales: Georgitsi, Marianthi, Viennas, Emmanouil, Antoniou, Dimitris I., Gkantouna, Vassiliki, van Baal, Sjozef, Petricoin, Emanuel F., Poulas, Konstantinos, Tzimas, Giannis, Patrinos, George P.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013745/
https://www.ncbi.nlm.nih.gov/pubmed/21113021
http://dx.doi.org/10.1093/nar/gkq1236
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author Georgitsi, Marianthi
Viennas, Emmanouil
Antoniou, Dimitris I.
Gkantouna, Vassiliki
van Baal, Sjozef
Petricoin, Emanuel F.
Poulas, Konstantinos
Tzimas, Giannis
Patrinos, George P.
author_facet Georgitsi, Marianthi
Viennas, Emmanouil
Antoniou, Dimitris I.
Gkantouna, Vassiliki
van Baal, Sjozef
Petricoin, Emanuel F.
Poulas, Konstantinos
Tzimas, Giannis
Patrinos, George P.
author_sort Georgitsi, Marianthi
collection PubMed
description Frequency of INherited Disorders database (FIND base; http://www.findbase.org) records frequencies of causative genetic variations worldwide. Database records include the population and ethnic group or geographical region, the disorder name and the related gene, accompanied by links to any related external resources and the genetic variation together with its frequency in that population. In addition to the regular data content updates, we report the following significant advances: (i) the systematic collection and thorough documentation of population/ethnic group-specific pharmacogenomic markers allele frequencies for 144 markers in 14 genes of pharmacogenomic interest from different classes of drug-metabolizing enzymes and transporters, representing 150 populations and ethnic groups worldwide; (ii) the development of new data querying and visualization tools in the expanded FINDbase data collection, built around Microsoft’s PivotViewer software (http://www.getpivot.com), based on Microsoft Silverlight technology (http://www.silverlight.net) that facilitates querying of large data sets and visualizing the results; and (iii) the establishment of the first database journal, by affiliating FINDbase with Human Genomics and Proteomics, a new open-access scientific journal, which would serve as a prime example of a non-profit model for sustainable database funding.
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spelling pubmed-30137452011-01-03 FINDbase: a worldwide database for genetic variation allele frequencies updated Georgitsi, Marianthi Viennas, Emmanouil Antoniou, Dimitris I. Gkantouna, Vassiliki van Baal, Sjozef Petricoin, Emanuel F. Poulas, Konstantinos Tzimas, Giannis Patrinos, George P. Nucleic Acids Res Articles Frequency of INherited Disorders database (FIND base; http://www.findbase.org) records frequencies of causative genetic variations worldwide. Database records include the population and ethnic group or geographical region, the disorder name and the related gene, accompanied by links to any related external resources and the genetic variation together with its frequency in that population. In addition to the regular data content updates, we report the following significant advances: (i) the systematic collection and thorough documentation of population/ethnic group-specific pharmacogenomic markers allele frequencies for 144 markers in 14 genes of pharmacogenomic interest from different classes of drug-metabolizing enzymes and transporters, representing 150 populations and ethnic groups worldwide; (ii) the development of new data querying and visualization tools in the expanded FINDbase data collection, built around Microsoft’s PivotViewer software (http://www.getpivot.com), based on Microsoft Silverlight technology (http://www.silverlight.net) that facilitates querying of large data sets and visualizing the results; and (iii) the establishment of the first database journal, by affiliating FINDbase with Human Genomics and Proteomics, a new open-access scientific journal, which would serve as a prime example of a non-profit model for sustainable database funding. Oxford University Press 2011-01 2010-11-27 /pmc/articles/PMC3013745/ /pubmed/21113021 http://dx.doi.org/10.1093/nar/gkq1236 Text en © The Author(s) 2010. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/2.5 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Articles
Georgitsi, Marianthi
Viennas, Emmanouil
Antoniou, Dimitris I.
Gkantouna, Vassiliki
van Baal, Sjozef
Petricoin, Emanuel F.
Poulas, Konstantinos
Tzimas, Giannis
Patrinos, George P.
FINDbase: a worldwide database for genetic variation allele frequencies updated
title FINDbase: a worldwide database for genetic variation allele frequencies updated
title_full FINDbase: a worldwide database for genetic variation allele frequencies updated
title_fullStr FINDbase: a worldwide database for genetic variation allele frequencies updated
title_full_unstemmed FINDbase: a worldwide database for genetic variation allele frequencies updated
title_short FINDbase: a worldwide database for genetic variation allele frequencies updated
title_sort findbase: a worldwide database for genetic variation allele frequencies updated
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013745/
https://www.ncbi.nlm.nih.gov/pubmed/21113021
http://dx.doi.org/10.1093/nar/gkq1236
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