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Check prs scoring files (for example, files from PGS Catalog) for errors:
script preprocess pgs/preprocess_prs_file.py, see --help for help with arguments, 'PGS001833.txt' example in data/.
1.2 VCF files
Check your vcf file for SNPs IDs - rsIDs. To get more info to your vcf:
VCF files can be annotated with bcftools, source of annotation can be selected from NCBI Human Variation Sets in VCF Format (ClinVar, dbSNP)
See launch example in preprocess/annotate_vcf.sh
2. Calculate polygenic risk score
Check header of script calc_and_visualize/calc_prs.py: file paths to vcf and prs scoring file must be specified, to use the optional enable/disable some SNPs, the paths to these lists can be set.
3. Visualize
To draw bullet plot fill the data (custom_snp_number, overall_snp_number variables) in header calc_and_visualize/draw_bullet_plot.py and run.
3. Calculate PRS with plink
We can also perform additional check with plink.
3.1 Plink
Get plink binary files by running the script preprocess/plink convert/get_plink_fileset_bin.sh.
If get into troubles with getting binary fileset, some intermediate steps may help. See plink/get_plink_fileset_pgen.sh, plink/pgen_to_bed.sh, or just try to fix initial .vcf file.
Run calc_and_visualize/run_plink_prs.sh
3.2 Plink2
Get plink pfiles by running the script preprocess/plink convert/get_plink_fileset_pgen.sh.
Run calc_and_visualize/run_plink2_prs.shplink/run_plink_prs.sh