Expanded national database collection and data coverage
in the FINDbase worldwide database for
clinically relevant genomic variation allele frequencies
Publisher: Nucleic Acids Research
Date published: 18 October 2016
Published in: Nucleic Acids Research, Volume 45, Issue D1, January 2017, Pages D846-D853
Abstract
FINDbase (http://www.findbase.org) is a comprehensive data repository that records the
prevalence of clinically relevant genomic variants in various populations worldwide, such as
pathogenic variants leading mostly to monogenic disorders and pharmacogenomics
biomarkers. The database also records the incidence of rare genetic diseases in various
populations, all in well-distinct data modules. Here, we report extensive data content
updates in all data modules, with direct implications to clinical pharmacogenomics. Also, we
report significant new developments in FINDbase, namely (i) the release of a new version of
the ETHNOS software that catalyzes development curation of national/ethnic genetic
databases, (ii) the migration of all FINDbase data content into 90 distinct national/ethnic
mutation databases, all built around Microsoft's PivotViewer (http://www.getpivot.com)
software (iii) new data visualization tools and (iv) the interrelation of FINDbase with
DruGeVar database with direct implications in clinical pharmacogenomics. The
abovementioned updates further enhance the impact of FINDbase, as a key resource for
Genomic Medicine applications.