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Fig. 8 | Genome Biology

Fig. 8

From: PTWAS: investigating tissue-relevant causal molecular mechanisms of complex traits using probabilistic TWAS analysis

Fig. 8

Examples of identified violations of exclusion restrictions. All three examples are identified from the PTWAS scan procedure; the corresponding tissues represent the tissues where the minimum p values are achieved. Each SNP-level estimate and its corresponding 95% confidence interval are plotted. Data points with the same color represent the SNPs within the same signal cluster and in LD. The size of the point reflects the relative magnitude of SNP-level PIP. In all examples, within cluster estimates are highly consistent; estimates by different clusters are qualitatively different, which is a clear indication of violation of the exclusion restriction. The I2 statistics computed for the three cases are 0.94 (GUCY1A1), 0.96 (CTB-171A8.1), and 0.98 (HLA-DQB2), respectively

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