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. 2014 Jan 8;22(9):1137–1144. doi: 10.1038/ejhg.2013.297

Figure 4.

Figure 4

The effect of number of rare variant sites (S) pooled together in a gene-based tests on P-value inflation (shown for mixing parameter r=1.0). There is a clear increase in inflation for the joint tests (blue lines) as the number of rare variant sites pooled into a gene-based test increases. Inflation in the burden tests (red lines) remains relatively consistent as the number of sites increases.