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

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.