Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies

DOI: 10.1093/nar/gkw949
Impact Factor: 10.162
Category: M21a
Graph View
First Author
Emmanouil Viennas
University of Patras
Corresponding Author
George Patrinas
University of Patras
Publishing Details
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.
Keywords
Speech recognition, Speech, Hidden Markov models, Speech processing, Mel frequency cepstral coefficient, acoustic signal processing, embedded systems, low-end embedded devices, bare-metal platform, constrained embedded environment, acoustic model, language model, dictionaries, readable ASCII string, serial port, performance measurements, embedded speech recognition, MFCC, HMM