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Cancer variant data from genome-wide association studies (GWAS)

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sigven/gwasOncoX

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gwasOncoX

The goal of gwasOncoX is to offer an R package that simplifies the process of retrieving variant data and track files (VCF, BED) for low-to-moderate risk variants associated with cancer, as found in genome-wide association studies. The package utilizes the googledrive R package to download the pre-processed and documented datasets to a local cache directory provided by the user.

Installation

remotes::install_github('sigven/gwasOncoX')

Usage

The package offers (currently) three different functions:

  • get_variants() - retrieves phenotype information related to GWAS variants in cancer (and GWAS catalog metadata - version, citation etc.)

  • get_bed() - retrieves BED tracks ( grch37 and grch38 ) for variants associated with cancer

  • get_vcf() - retrieves VCF files ( grch37 and grch38 ) for variants associated with cancer.

IMPORTANT NOTE

If you use the datasets provided with gwasOncoX, make sure you properly cite the the NHGRI-EBI Catalog of human genome-wide association studies:

Contact

sigven AT ifi.uio.no