FINDbase: a worldwide database for genetic variation allele frequencies updated

被引:12
作者
Georgitsi, Marianthi [1 ]
Viennas, Emmanouil [2 ]
Antoniou, Dimitris I. [2 ]
Gkantouna, Vassiliki [2 ]
van Baal, Sjozef [3 ]
Petricoin, Emanuel F., III [4 ]
Poulas, Konstantinos [1 ]
Tzimas, Giannis [5 ]
Patrinos, George P. [1 ]
机构
[1] Univ Patras, Sch Hlth Sci, Dept Pharm, Patras, Greece
[2] Univ Patras, Fac Engn, Dept Comp Engn & Informat, Patras, Greece
[3] Erasmus MC, MGC Dept Cell Biol & Genet, Fac Med & Hlth Sci, Rotterdam, Netherlands
[4] George Mason Univ, Ctr Appl Prote & Mol Med, Manassas, VA USA
[5] Technol Educ Inst Messolonghi, Fac Management & Econ, Dept Appl Informat Management & Finance, Mesolongion, Greece
关键词
INHERITED DISORDERS; RELATIONAL DATABASE; MUTATION DATABASE; PHARMACOGENOMICS; KNOWLEDGEBASE; POPULATION; VARIANTS;
D O I
10.1093/nar/gkq1236
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:D926 / D932
页数:7
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