Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
Article
Viennas, E., Komianou, A., Mizzi, C., Stojiljkovic, M., Mitropoulou, C., Muilu, J., Vihinen, M., Grypioti, P., Papadaki, S., Pavlidis, C., Zukic, B., Katsila, T., van der Spek, P., Pavlovic, S., Tzimas, G. and Patrinos, G. 2017. Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Nucleic Acids Research. 45 (D1), pp. D846-D853. https://doi.org/10.1093/nar/gkw949
Type | Article |
---|---|
Title | Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies |
Authors | Viennas, E., Komianou, A., Mizzi, C., Stojiljkovic, M., Mitropoulou, C., Muilu, J., Vihinen, M., Grypioti, P., Papadaki, S., Pavlidis, C., Zukic, B., Katsila, T., van der Spek, P., Pavlovic, S., Tzimas, G. and Patrinos, G. |
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. |
Publisher | Oxford University Press (OUP) |
Journal | Nucleic Acids Research |
ISSN | 0305-1048 |
Electronic | 1362-4962 |
Publication dates | |
Online | 18 Oct 2016 |
04 Jan 2017 | |
Publication process dates | |
Deposited | 24 Apr 2020 |
Accepted | 12 Oct 2016 |
Output status | Published |
Publisher's version | License |
Copyright Statement | © The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research. |
Digital Object Identifier (DOI) | https://doi.org/10.1093/nar/gkw949 |
Language | English |
https://repository.mdx.ac.uk/item/88y26
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