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Fig. 6 | Genome Biology

Fig. 6

From: HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases

Fig. 6

Distribution of the pleiotropy score among variants (a), genes (b), and traits (c). a The global distribution of \( {P}_m^{\mathrm{LD}} \) (left) and \( {P}_n^{\mathrm{LD}} \) (right) for the 767,057 tested variants. The expected distribution under the null hypothesis of no pleiotropy is shown in red and the observed distribution is shown in blue. The vertical line represents the value of the pleiotropy score corresponding to genome-wide significance (P < 5 × 10− 8). A total of 1769 (\( {P}_m^{\mathrm{LD}} \)) and 643 (\( {P}_n^{\mathrm{LD}} \)) variants are not represented for the sake of clarity, because they have extreme values for the pleiotropy score. b The distribution of the average pleiotropy score for coding variants in each gene for \( {P}_m^{\mathrm{LD}} \) (left) and \( {P}_n^{\mathrm{LD}} \) (right). The top ten genes are represented on the right side of the plots, whereas genes with a pleiotropy score of 0 are represented on the left side of the plots. c The contribution of pleiotropic variants to 82 complex traits and diseases. Contribution of pleiotropic variants is calculated as the correlation coefficient between the absolute value of Z-scores and the pleiotropy score among variants that are genome-wide significant for the pleiotropy score (P < 5 × 10− 8 for \( {P}_m^{\mathrm{LD}} \) and \( {P}_n^{\mathrm{LD}} \) respectively)

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