VarGen: An R package for disease-associated variant discovery and annotation

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dc.contributor.author Molitor, Corentin
dc.contributor.author Brember, Matt
dc.contributor.author Mohareb, Fady R.
dc.date.accessioned 2019-12-17T10:50:34Z
dc.date.available 2019-12-17T10:50:34Z
dc.date.issued 2019-12-13
dc.identifier.citation Molitor C, Brember M, Mohareb F. VarGen: An R package for disease-associated variant discovery and annotation. Bioinformatics, Available online 13 December 2019 en_UK
dc.identifier.issn 1367-4803
dc.identifier.uri https://doi.org/10.1093/bioinformatics/btz930
dc.identifier.uri http://dspace.lib.cranfield.ac.uk/handle/1826/14851
dc.description.abstract Over the past decade, there has been an exponential increase in the amount of disease-related genomic data available in public databases. However, this high-quality information is spread across independent sources and researchers often need to access these separately. Hence, there is a growing need for tools that gather and compile this information in an easy and automated manner. Here we present “VarGen”, an easy to use, customisable R package that fetches, annotates and rank variants related to diseases and genetic disorders, using a collection public databases (viz. OMIM, FANTOM5, GTEx and the GWAS catalog). This package is also capable of annotating these variants to identify the most impactful ones. We expect that this tool will benefit the research of variant-disease relationships. en_UK
dc.language.iso en en_UK
dc.publisher Oxford University Press en_UK
dc.rights Attribution-NonCommercial 4.0 International *
dc.rights.uri http://creativecommons.org/licenses/by-nc/4.0/ *
dc.title VarGen: An R package for disease-associated variant discovery and annotation en_UK
dc.type Article en_UK


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