Portal de Periódicos da CAPES

FINDbase: a worldwide database for genetic variation allele frequencies updated

2010; Oxford University Press; Volume: 39; Issue: suppl_1 Linguagem: Inglês

10.1093/nar/gkq1236

1362-4962

Marianthi Georgitsi, Emmanouil Viennas, Dimitris Antoniou, Vassiliki Gkantouna, Sjozèf van Baal, Emanuel F. Petricoin, Konstantinos Poulas, Giannis Tzimas, George P. Patrinos,

Genomic variations and chromosomal abnormalities

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.