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Fig. 2 | Genome Medicine

Fig. 2

From: Expression quantitative trait locus analysis for translational medicine

Fig. 2

Transcriptional and genotypic risk scores. a The relationship between the allelic sum genotypic risk score (GRS) and the polarized sum of transcriptional risk score (TRS) z-scores in a simulation of 100,000 individuals in whom disease is observed in the individuals in the highest decile of an underlying phenotype with 50 % heritability. The correlation between GRS and TRS is highly significant, but red points highlight how the individuals with the highest risk for disease can differ with respect to genotypic and transcriptional risk at eQTL loci. b Frequency distribution of inferred genotype effect sizes for the 100 genes, median 1.09-fold risk, all but one less than 1.2-fold risk, indicating compatibility with an infinitesimal model of complex disease genetics. c Receiver operating curves for the TRS and GRS, showing that the TRS under this model achieves much higher true positive rates (sensitivity) for smaller false positive rates (higher specificity). GWAS genome-wide association study, SNP single nucleotide polymorphism

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