TY - JOUR
T1 - FINDbase
T2 - A worldwide database for genetic variation allele frequencies updated
AU - Georgitsi, Marianthi
AU - Viennas, Emmanouil
AU - Antoniou, Dimitris I.
AU - Gkantouna, Vassiliki
AU - Van Baal, Sjozef
AU - Petricoin, Emanuel F.
AU - Poulas, Konstantinos
AU - Tzimas, Giannis
AU - Patrinos, George P.
N1 - Funding Information:
European Commission [grants MEDGENET (FP6-31968) and GEN2PHEN (FP7-200754) to G.P.P.]; Golden Helix Institute of Biomedical Research. Funding for open access charge: FP7–GEN2PHEN Integrated Project.
PY - 2011/1
Y1 - 2011/1
N2 - 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 openaccess scientific journal, which would serve as a prime example of a non-profit model for sustainable database funding.
AB - 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 openaccess scientific journal, which would serve as a prime example of a non-profit model for sustainable database funding.
UR - http://www.scopus.com/inward/record.url?scp=78651340989&partnerID=8YFLogxK
U2 - 10.1093/nar/gkq1236
DO - 10.1093/nar/gkq1236
M3 - Article
C2 - 21113021
AN - SCOPUS:78651340989
SN - 0305-1048
VL - 39
SP - D926-D932
JO - Nucleic Acids Research
JF - Nucleic Acids Research
IS - SUPPL. 1
ER -