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

Table 1.

Type I Error Rate for RV-GDT at α Levels of 0.05 and 0.005

Discordant Sib-Pair
Affected Sib-Pair
Extended Pedigree
Mixed Family Types
α = 0.05 α = 0.005 α = 0.05 α = 0.005 α = 0.05 α = 0.005 α = 0.05 α = 0.005
RV-GDT 0.047 0.0048 0.050 0.0051 0.051 0.0049 0.051 0.0048

Each Founder Has a 50% Probability of Missing All Genotype Data

RV-GDT 0.051 0.0050 0.051 0.0049 0.049 0.0047 0.051 0.0047

80% African and 20% European Population Admixture

RV-GDT 0.051 0.0049 0.051 0.0048 0.048 0.0047 0.050 0.0051

50% African and 50% European Families

RV-GDT 0.050 0.0051 0.049 0.0053 0.048 0.0052 0.051 0.0048

We simulated 1,000 families for each pedigree structure shown in Figure 1 and mixed pedigree structures. Genotype data were generated for all autosomal genes across the genome with an OR of 1.0, and type I error rate was defined as the proportion of genes with a p value less than 0.05 or 0.005. We used variant information for 17,987 autosomal genes from the ExAC non-Finnish European population to generate family data when each founder had a 0% or 50% probability of missing genotype data. We used variant information for 17,873 autosomal genes present in both the ExAC non-Finnish European population and African and African American populations to generate family data with population admixture and substructure.