Article
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
Nucleic acids research - 4 Jan 2017
Viennas Emmanouil, Komianou Angeliki, Mizzi Clint, Stojiljkovic Maja, Mitropoulou Christina, Muilu Juha, Vihinen Mauno, Grypioti Panagiota, Papadaki Styliani, Pavlidis Cristiana, Zukic Branka, Katsila Theodora, van der Spek Peter J, Pavlovic Sonja, Tzimas Giannis, Patrinos George P
Abstract excerpt
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...
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