compare_effect_to_gwascatalog: Compare the genetic effect sizes in the test dataset to the...

View source: R/make_plot_gwas_catalog.R

compare_effect_to_gwascatalogR Documentation

Compare the genetic effect sizes in the test dataset to the GWAS catalog

Description

Compare the direction of effects and effect allele frequency between the test dataset and the GWAS catalog, in order to identify effect allele meta data errors

Usage

compare_effect_to_gwascatalog(
  dat = NULL,
  efo = NULL,
  efo_id = NULL,
  trait = NULL,
  beta = NULL,
  se = NULL,
  gwas_catalog_ancestral_group = c("European", "East Asian"),
  exclude_palindromic_snps = TRUE,
  force_all_trait_study_hits = FALSE,
  distance_threshold = distance_threshold
)

Arguments

dat

the test dataset of interest

efo

trait of interest in the experimental factor ontology

efo_id

ID for trait of interest in the experimental factor ontology

trait

the trait of interest

beta

name of the column containing the SNP effect size

se

name of the column containing the standard error for the SNP effect size.

gwas_catalog_ancestral_group

restrict the comparison to these ancestral groups in the GWAS catalog. Default is set to (c("European","East Asian")

exclude_palindromic_snps

should the function exclude palindromic SNPs? default set to TRUE. If set to FALSE, then conflicts with the GWAS catalog could reflect comparison of different reference strands.

force_all_trait_study_hits

force the comparison to include GWAS hits from the test dataset if they are not in the GWAS catalog? This should be set to TRUE only if dat is restricted to GWAS hits for the trait of interest. This is useful for visualising whether the test trait study has an unusually larger number of GWAS hits, which could, in turn, indicate analytical issues with the summary statistics

distance_threshold

distance threshold for deciding if the GWAS hit in the test dataset is present in the GWAS catalog. For example, a distance_threshold of 25000 means that the GWAS hit in the test dataset must be within 25000 base pairs of a GWAS catalog association, otherwise it is reported as missing from the GWAS catalog.

Value

dataframe


MRCIEU/mrQC documentation built on May 6, 2023, 1:40 p.m.