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Downloads a tabix-indexed VCF file (.vcf.gz and .vcf.gz.tbi) with variants associated with disease phenotypes (as found in the NHGRI-EBI GWAS catalog). Only variants where the risk-allele is properly identified are included here. The GWAS_HIT element of the INFO column has the following format: rsid|risk_allele|pmid|tag_snp|p_valule|efo_id

Usage

get_vcf(cache_dir = NA, force_download = F, build = "grch37", cancer_only = T)

Arguments

cache_dir

Local directory for data download

force_download

Logical indicating if local cache should be overwritten (set to TRUE to force download if file exists in cache)

build

genome assembly (grch37/grch38)

cancer_only

logical indicating retrieval of all variants versus cancer-associated variants only

Value

A data frame with file download information and metadata