Fig. 3: Overlaid QQ plots for the coding model with the phenotype atrial fibrillation. | Nature Communications

Fig. 3: Overlaid QQ plots for the coding model with the phenotype atrial fibrillation.

From: Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

Fig. 3

This phenotype has a 1:22 case:control ratio. Shown are the results for a linear mixed model (LMM) meta-analysis of all European ancestry individuals with no minimum number of variant carriers required (black), with at least ten case carriers observed (red), and with at least ten case carriers expected in the case group based on the overall frequency (cyan), as well as a Fisher’s exact test (FET) of unrelated European ancestry individuals and all genes included (blue). The second to last condition is the requirement we set for our main analysis results. The one significant association is TTN, known from previous studies to be involved in phenotypes related to atrial fibrillation28. This association is significant (meta-analysis p < 3.4 × 10−10) in the LMM analysis, but it is difficult to distinguish from test statistic inflation without using the 10 expected case carriers cutoff (cyan). There is no inflation in the Fisher’s exact test of unrelated individuals, but this association is not significant in that analysis.

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