Figure 2 | Genetics in Medicine

Figure 2

From: Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Figure 2

Odds ratios (OR) with 95% confidence interval (CI) for each gene tested in the hypertrophic cardiomyopathy (HCM) (n = 632 to 6,179), dilated cardiomyopathy (DCM) (n = 121 to 131), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (n= 93 to 361) clinical cohorts compared with Exome Aggregation Consortium (ExAC) reference samples (n = mean of total adjusted allele count for rare variant carriers. for HCM genes, n = 47,153 to 60,647; for DCM genes, n = 42,697 to 60,647; and for ARVC genes, n = 51,126 to 60,218). See Supplementary Table S5a–c online for data used to generate this plot. Data have been plotted (log10 scale) for all protein-altering variants (black) and truncating variants (blue). For truncating variants, OR with 95% CI have been plotted for genes where a statistically significant difference was observed for this variant type on FET. *Statistically significant Fisher’s exact test (FET) (P=0.05 with Bonferroni correction; HCM P ≤ 0.0025; DCM P ≤ 0.001; and ARVC P ≤ 0.006.). ^Genes analyzed in fewer than 200 cases. CTF1 and RBM20 were removed from analysis owing to poor coverage in ExAC.

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