BMC Proceedings

Table 2 Empirical power estimates of the collapsing-variant tests based on 200 simulated data sets in SIMPHEN, according to the MAP4 subregions containing at least 1 functional variant

From: Identification of low frequency and rare variants for hypertension using sparse-data methods

		Burden^a			SKAT^a			SKAT-O^a
Significance level	Subregion	Rare	Rare & low- frequency	All	Rare	Rare & low- frequency	All	Rare	Rare & low- frequency	All
0.01	1	0	0	0.260^b	0.005	0.005	0.840^b	0.005	0.005	0.805^b
	2	0	0.005	0.005	0	0.145	0.145	0	0.090	0.080
	4	0	0.955	0.955	0	1.000	1.000	0	1.000	1.000
	6	0	0.990	0.995	0	1.000	1.000	0	1.000	1.000
0.05	1	0.045	0.045	0.555^b	0.015	0.020	0.960^b	0.015	0.015	0.970^b
	2	0.060	0.030	0.030	0.020	0.330	0.330	0.005	0.255	0.250
	4	0.030	0.990	0.990	0.025	1.000	1.000	0.015	1.000	1.000
	6	0.105	1.000	1.000	0.075	1.000	1.000	0.085	1.000	1.000

^aFor each subregion, power was estimated when a test includes only rare, rare and low-frequency, and all variants
^bA result of 2 nonfunctional common variants that were in LD (r ² > 0.3) with the 2 functional common variants in subregion 4

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ISSN: 1753-6561

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