PRS _macro^{[code]
[publication]
[notebook]

[
tutorial]}
Individual polygenic risk score calculation (PRS) for 23andme reports, using the PGS Catalog.
This version of the prsCalculator will automate calling individual PGS catalog entries and individual 23andme files made public by the personal genome project.

Macro

Identify list of PGS catalog entries and list of 23andme results you want to tabulate:

List of PGS catalog entries:
1,2,3,4
List of 23andme files:
./pgpZip/23andme_genome_Dan_Elton_v5_Full_20221117115029.zip ./pgpZip/genome_Cajun_v5_Full_20231121192441.zip ./pgpZip/genome_Christopher_Smith_v5_Full_20230926164611.zip ./pgpZip/genome_Hannah_Goodman_v5_Full_20230823144607.zip

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Scope/Limitations:This calculator was devised as an implementation proof of concept. It has a number of important limitations for epidemiology research and it does not meet criteria for clinical use. The current tool uses pre-imputation genotype data and thus results in a low number of SNP matches. Most important, only the relative risk model (Box 1, eq 2) is calculated, with no effort to determine absolute risk of disease. Finally, the risk calculation will only be attempted for PGS catalog entries reporting effects as beta values under "effect_weight".