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Table 2 Criteria we used to select Polygenic Risk Scores (PRS) for our study. GWAS: Genome Wide Association Study; AUC: Area Under the Curve; 1000G: 1000 Genomes Project; hg19: Human Genome 19 reference assembly

From: Implementation of individualised polygenic risk score analysis: a test case of a family of four

2a. PRS design selection criteria

2b. Bioinformatic selection criteria

i. Traceable to a discovery GWAS from a recognised consortium

i. At least 95% SNPs present in 1000G Phase III distribution

ii. Trained in a second study using previously published PRS creation methods

ii. Pass matching allele filter

iii. Validation in a large independent cohort; preferably UKB

iii. Have effect weights

iv. AUC or similar performance metric above 0.55

iv. Coordinates in hg19

v. If several PRS of same phenotype: judgement of study as a whole

 

vi. Have risk metrics if possible: odds ratios, hazard ratios, fold increase

 
  1. AUC provides an estimate of the probability a randomly selected case has predicted value more extreme than that of a randomly chosen control (https://doi.org/10.1038/s41398-020-00865-8)