IRT for CRC
  • Developing an Integrated Risk Prediction Tool for Colorectal Cancer
  • Cohort used for the study
  • Clinical risk factors
    • Creating the clinical dataframe
    • Creating the clinical risk model
    • Analyzing the results
  • Polygenic risk scores
    • PRSice
    • Preparing to use PRSice
    • Obtaining polygenic risk scores
    • Analyzing the results
    • Plink2
  • Integrated risk score
    • Obtaining integrated risk scores
    • Analyzing the results
  • Working with real patient data
    • Genetic data from Tempus Labs
      • Preparing the data and obtaining polygenic risk scores
      • Interpreting the scores
    • Clinical data from Gastroenterology Atlanta
      • Obtaining integrated scores and understanding the results
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  1. Polygenic risk scores

Obtaining polygenic risk scores

Commands used to generate the best output (in Linux terminal):

Rscript PRSice/PRSice.R 
--base PGS000074.txt 
--target /home/sharedFolder/referenceData/ukb/imputed_genotypes/ukb_imp_chr#_v3,/home/sharedFolder/referenceData/ukb/imputed_genotypes/ukb_imp_chr1_v3.sample 
--type bgen
--snp SNP --chr CHR --bp BP --A1 A1 --A2 A2 --stat BETA --pvalue P
# --base-maf allelefrequency_effect:0.2
# --maf 0.01
--binary-target T 
--no-clump 
--fastscore
--ignore-fid 
--pheno /home/vsrinivasan75/cases_controls_new/pheno_white.txt
--cov /home/vsrinivasan75/cases_controls_new/covariates_white.txt
--cov-factor SEX 
--quantile 100 --quant-break 10,20,30,40,50,60,70,80,90,100 --quant-ref 50
--out /ukb_prs/colorectal_cancer/using_prsice/PGS000074/PGS000074_results 
--prsice PRSice/PRSice_linux
Rscript PRSice/PRSice.R 
--base PGS000785.txt 
--target /home/sharedFolder/referenceData/ukb/imputed_genotypes/ukb_imp_chr#_v3,/home/sharedFolder/referenceData/ukb/imputed_genotypes/ukb_imp_chr1_v3.sample 
--type bgen 
--snp SNP --chr CHR --bp BP --A1 A1 --A2 A2 --stat BETA --pvalue P
# --base-maf allelefrequency_effect:0.2
# --maf 0.01
--binary-target T 
--no-clump 
--fastscore
--ignore-fid 
--pheno /home/vsrinivasan75/cases_controls_new/pheno_white.txt
--cov /home/vsrinivasan75/cases_controls_new/covariates_white.txt
--cov-factor SEX 
--quantile 100 --quant-break 10,20,30,40,50,60,70,80,90,100  --quant-ref 50
--out /ukb_prs/colorectal_cancer/using_prsice/PGS000785/PGS000785_results 
--prsice PRSice/PRSice_linux
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Last updated 1 year ago