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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 LU ; Grypioti, Panagiota; Papadaki, Styliani and Pavlidis, Cristiana, et al. (2017) In Nucleic Acids Research 45(D1). p.846-853
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 leadingmostly tomonogenic 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... (More)

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 leadingmostly tomonogenic 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/ethnicmutation 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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publication status
published
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Nucleic Acids Research
volume
45
issue
D1
pages
846 - 853
publisher
Oxford University Press
external identifiers
  • scopus:85015999664
  • wos:000396575500118
ISSN
0305-1048
DOI
10.1093/nar/gkw949
language
English
LU publication?
yes
id
be8b7550-bfb8-46e5-91a1-7a11d0f6578a
date added to LUP
2017-04-10 10:46:03
date last changed
2017-09-18 13:31:49
@article{be8b7550-bfb8-46e5-91a1-7a11d0f6578a,
  abstract     = {<p>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 leadingmostly tomonogenic 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/ethnicmutation 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.</p>},
  author       = {Viennas, Emmanouil and Komianou, Angeliki and Mizzi, Clint and Stojiljkovic, Maja and Mitropoulou, Christina and Muilu, Juha and Vihinen, Mauno and Grypioti, Panagiota and Papadaki, Styliani and Pavlidis, Cristiana and Zukic, Branka and Katsila, Theodora and Van Der Spek, Peter J. and Pavlovic, Sonja and Tzimas, Giannis and Patrinos, George P},
  issn         = {0305-1048},
  language     = {eng},
  month        = {01},
  number       = {D1},
  pages        = {846--853},
  publisher    = {Oxford University Press},
  series       = {Nucleic Acids Research},
  title        = {Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies},
  url          = {http://dx.doi.org/10.1093/nar/gkw949},
  volume       = {45},
  year         = {2017},
}