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Rare Variant Meta-Analysis

Input Files

-LD matrix : can be obtained from SAIGE step3_LDmat.R

-GWAS summary

Options for RV_meta.R

  • --num_cohorts : number of cohorts
  • --chr : chrmosome number
  • --info_file_path : path to the marker_info.txt file generated from SAIGE 'step3_LDmat.R'. Need to specify marker_info.txt file from each and every cohort delimited by white-space (' ')
  • --gene_file_prefix : prefix to the LD matrix separated by genes (also generated from SAIGE step3_LDmat.R) usually same as marker_info.txt file's prefix
  • --gwas_path : path to the GWAS summary. Need to specify GWAS summary file from each and every cohort delimited by white-space (' ')
  • output_prefix: directory for output

example command could be found in 'test_run.sh'

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