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. 2017 Dec 5;101(6):903–912. doi: 10.1016/j.ajhg.2017.09.027

Table 1.

Maximum Phenotypic Variance Explained by Optimized Polygenic Scores and the Maximum Cumulative Out-of-Sample Prediction R2 for SOJO and GCTA-COJO in UKB

Cumulative PredictionR2(%) R2Explained by Polygenic Scores (%)
Trait Top Variant Standard COJO Optimized COJO SOJO Top Variant Standard COJO Optimized COJO SOJO

Height 14.35 17.38 23.42 24.52 13.76 16.71 21.42 22.70
BMI 1.88 1.99 2.42 2.52 1.84 1.94 2.35 2.46
WHRadjBMI 1.62 1.78 2.18 2.32 1.58 1.76 2.07 2.28

The R2 for cumulative out-of-sample prediction was computed from a summation of all regional prediction R2. R2 explained by polygenic scores were the amount of phenotypic variance that could be explained by all regional polygenic scores.

Top variant: only the top variant was selected. Standard COJO: variants selected by COJO with 5×108 as the threshold. Optimized COJO: variants selected by COJO with threshold maximizing regional prediction R2. Coefficients of variants in each polygenic score were estimated by joint multiple regression in COJO. SOJO: variants selected by LASSO with tuning parameter maximizing regional prediction R2. Coefficients of variants in each polygenic score were determined by the LASSO result at the tuning parameter.