Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.

In all except one study where the Mendelian disorder was found to be caused by inherited disease variants ( N = 20) [ 51 – 68 , 76 , 77 ], findings were confirmed to be significant using our methods, and in 11 out of 20 studies, P -values were highly significant ( P < 0.0001).

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