Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies

作者：Papadopoulos Petros; Viennas Emmanouil; Gkantouna Vassiliki; Pavlidis Cristiana; Bartsakoulia Marina; Ioannou Zafeiria Marina; Ratbi Ilham; Sefiani Abdelaziz; Tsaknakis John; Poulas Konstantinos; Tzimas Giannis; Patrinos George P^*

来源：Nucleic Acids Research, 2014, 42(D1): D1020-D1026.

DOI：10.1093/nar/gkt1125

FINDbase (http://www.findbase.org) aims to document frequencies of clinically relevant genomic variations, namely causative mutations and pharmacogenomic markers, worldwide. Each database record includes the population, ethnic group or geographical region, the disorder name and the related gene, accompanied by links to any related databases and the genetic variation together with its frequency in that population. Here, we report, in addition to the regular data content updates, significant developments in FINDbase, related to data visualization and querying, data submission, interrelation with other resources and a new module for genetic disease summaries. In particular, (i) we have developed new data visualization tools that facilitate data querying and comparison among different populations, (ii) we have generated a new FINDbase module, built around Microsoft%26apos;s PivotViewer (http://www.getpivot.com) software, based on Microsoft Silverlight technology (http://www.silverlight.net), that includes 259 genetic disease summaries from five populations, systematically collected from the literature representing the documented genetic makeup of these populations and (iii) the implementation of a generic data submission tool for every module currently available in FINDbase.

• 出版日期2014-1