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POP-GWAS analysis

This repository contains source code to reproduce analyses in "Valid inference for machine learning-assisted genome-wide association studies".

The official software package is in POP-TOOLS GitHub repo.

File structures

Simulations

  • ./simulation/Fun.R: Functions for simulation and simple implementation of POP-GWAS in R
  • ./simulation/qt.R: simulation for quantitative phenotype
  • ./simulation/bt.R: simulation for binary phenotype
  • ./simulation/imputation_r_FPR.R: type-I error simulation for varying imputation correlation
  • ./simulation/imputation_r_power.R: power simulation for varying imputation correlation
  • ./simulation/vary_ratio.R: simulation for varying sample size of unlabeled data

UK Biobank data analysis

  • ./real_data/1_softimpute.R: phenotype imputation using softimpute
  • ./real_data/2_regenie.sh: run GWAS using regenie
  • ./real_data/3_popGWAS.sh: apply POP-GWAS to summary statistics
  • ./real_data/4.1_post-GWAS.sh: estimating heritability and genetic correlation using LD score regression
  • ./real_data/4.2_coloc.R: colocalization analysis

Contact

Feel free to reach out to Jiacheng at jmiao24@wisc.edu for questions.