MCorentin/vargen: Fetching Variants Related to Phenotypes Using Public Databases

Discover and annotate variants related to phenotypes. VarGen is centred on the genes linked to the disease of interest in OMIM (subsequently called the "OMIM genes"). Variants are obtained from the following sources: - OMIM: Variants located directly on the "OMIM genes". - FANTOM5: Variants located on the enhancers of the "OMIM genes". - GTEx: Variants associated with a change in expression for the "OMIM genes", in certain tissues. - GWAS catalog: Variants associated with the phenotype of interest.

Getting started

Package details

Maintainer
LicenseMIT + file LICENSE
Version0.2.3
URL https://github.com/MCorentin/vargen
Package repositoryView on GitHub
Installation Install the latest version of this package by entering the following in R:
install.packages("remotes")
remotes::install_github("MCorentin/vargen")
MCorentin/vargen documentation built on Feb. 6, 2024, 2:32 p.m.