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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On this page
  • To install PRSice v.2.3.5 (Linux 64 bit)
  • To get the required scoring files
  • Quality control of the scoring files
  1. Polygenic risk scores

Preparing to use PRSice

PreviousPRSiceNextObtaining polygenic risk scores

Last updated 1 year ago

To install PRSice v.2.3.5 (Linux 64 bit)

wget https://github.com/choishingwan/PRSice/releases/download/2.3.5/PRSice_linux.zip
unzip PRSice_linux.zip

To get the required scoring files

The following scoring files were taken from on the basis of the cohort distribution, year of compilation, and number of variants for the required phenotype. Each of these scoring files had 103 variants for colorectal cancer for white cohorts.

These scoring files were loaded using the following command on the Linux terminal:

wget https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000074/ScoringFiles/PGS000074.txt.gz
gunzip PGS000074.txt.gz
wget https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000785/ScoringFiles/PGS000785.txt.gz
gunzip PGS000785.txt.gz

Quality control of the scoring files

To remove metadata (in Linux terminal)

sed '1,14d' PGS000074.txt > PGS000074.txt
sed '1,14d' PGS000785.txt > PGS000785.txt

Since scoring files from the PGS Catalog do not include p-values, it was set to a default value of 0 (in R)

df1 <- read.table("PGS000074.txt", header=TRUE, sep="\t")
df1$P <- '0'
write.table(df1, "PGS000074.txt", quote=FALSE, row.names=FALSE)
df2 <- read.table("PGS000785.txt", header=TRUE, sep="\t")
df2$P <- '0'
write.table(df2, "PGS000785.txt", quote=FALSE, row.names=FALSE)
PGS Catalog
PGS000074
PGS000785