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FINDbase: a worldwide database for genetic variation allele frequencies updated.

ΤίτλοςFINDbase: a worldwide database for genetic variation allele frequencies updated.
Publication TypeJournal Article
Year of Publication2011
AuthorsGeorgitsi, M., Viennas E., Antoniou D. I., Gkantouna V., van Baal S., Petricoin E. F., Poulas K., Tzimas G., & Patrinos G. P.
JournalNucleic Acids Res
Volume39
IssueDatabase issue
PaginationD926-32
Date Published2011 Jan
ISSN1362-4962
Λέξεις κλειδιάDatabases, Nucleic Acid, Ethnic Groups, Gene Frequency, Genetic Diseases, Inborn, Genetic Markers, Genetic Variation, Humans, Periodicals as Topic, Pharmacogenetics, Software
Abstract

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.

DOI10.1093/nar/gkq1236
Alternate JournalNucleic Acids Res.
PubMed ID21113021
PubMed Central IDPMC3013745

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