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Table 2 Power and effect of the proportion of positive causal SNVs ( r% ) under significance level of 0.05

From: The power comparison of the haplotype-based collapsing tests and the variant-based collapsing tests for detecting rare variants in pedigrees

Power

 

# of variants

maxH

hPDT

hPDT-t

maxV

vPDT

vPDT-t

d%=0.5

r%=1

23.10(sd=5.04)

0.439

0.882

0.255

0.463

0.879

0.313

 

r%=0.8

22.21(sd=4.87)

0.390

0.617

0.229

0.390

0.598

0.238

 

r%=0.5

21.60(sd=4.84)

0.294

0.161

0.174

0.293

0.152

0.199

 

r%=0.2

20.93(sd=4.68)

0.167

0.089

0.087

0.158

0.095

0.090

 

r%=0.05

20.17(sd=4.72)

0.045

0.288

0.048

0.044

0.293

0.062

  1. Note: (1) “# of variants” indicates the mean and standard deviation (sd) values of the number of SNVs in a 20Kb test region on 1000 replicates (10 permutations for each replicate); (2) d% is the proportion of rare variants in the causal region to be causal; (3) r% is the proportion of causal variants increase risk.
  2. Abbreviations: maxH: maximal haplotype test; hPDT: haplotype-based pedigree disequilibrium test; hPDT-t: haplotype-based pedigree disequilibrium test with training data; maxV: maximal rare variant test; vPDT: variant-based pedigree disequilibrium test; vPDT-t: rare variant based pedigree disequilibrium test with training data.