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Sun-et-al-2021-protein-coding-variants-in-human-disease

R package to generate results as per Sun et al,. 2021, Genetic associations of protein-coding variants in human disease

Functions

  • allelic_het_simulator - simulates allelic heterogenity between two population cohorts and computes the resuting IVW-uplift.
  • surface_plots - outputs surface plots for the observed (i.e., simulated) and expected (i.e., theoretically predicted) values for IVW-uplift across a range of MAFs and allelic enrichment values.
  • figure_4_mr_clust - function which performs clustered Mendelian randomization and outputs results as per figures 4a-d.

Installation

  1. install.packages("devtools")
  2. library(devtools)
  3. install_github("cnfoley/Sun-et-al-2021-protein-coding-variants-in-human-disease", build_vignettes = FALSE)
  4. install_github("cnfoley/mrclust", build_vignettes = TRUE)
  5. library(Sun-et-al-2021-protein-coding-variants-in-human-disease)
  6. browseVignettes("Sun-et-al-2021-protein-coding-variants-in-human-disease")

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Genetic associations of protein-coding variants in human disease

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