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. 2017 Jan 5;100(2):193–204. doi: 10.1016/j.ajhg.2016.12.001

Table 2.

Power Comparison of Epstein’s ASP Method, RV-PDT, FBAT, and RV-GDT when Founders Are Missing Different Proportions of Genotype Data

Method Discordant Sib-Pair
Affected Sib-Pair
Extended Pedigree
Mixed Family Types
0%a 25%a 50%a 0% 25% 50% 0% 25% 50% 0% 25% 50%
Epstein’s ASPb 0.23 0.23 0.23 0.10 0.10 0.10
FBAT 0.46 0.40 0.35 0.80 0.71 0.54 0.42 0.38 0.34 0.61 0.52 0.38
RV-PDT 0.51 0.45 0.42 0.79 0.70 0.52 0.48 0.45 0.41 0.63 0.55 0.43
RV-GDT 0.53 0.48 0.45 0.81 0.75 0.62 0.64 0.62 0.60 0.66 0.62 0.56

Genetic variant data were generated for 1,000 families of each pedigree structure shown in Figure 1 and mixed pedigree structures with the use of ExAC non-Finnish European variant information. Genotype data were generated for 17,987 autosomal genes across the genome when 75% of the rare nonsense, missense, and splice-site variants were randomly selected to be causal with an OR of 2.5, and power was evaluated as the proportion of genes with a p value < 0.05.

a

Probability that each founder is missing all genotype data.

b

Power was evaluated under the assumption that the exact IBD sharing between affected sib-pairs is known. Unknown IBD sharing and non-simulated data would reduce the power.