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Chunk #5 — METHODS AND MATERIALS — Simulation and Recovery of SNP Heritability for Binary Traits — Analysis of Simulated Summary Statistics.

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Pervasive Downward Bias in Estimates of Liability-Scale Heritability in Genome-wide Association Study Meta-analysis: A Simple Solution.
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We compared the ability to recover the population liability-scale heritability (hl2) for 2 approaches: the standard procedure of inputting the total sample prevalence (vTotal) and the total sample size (NTotal), versus our proposed approach of inputting the sum of effective sample sizes (∑EffNk) and a sample prevalence (v) of 0.5 to reflect the fact that the effective sample size equation already accounts for cohort-specific sample ascertainment. For each simulation condition and liability correction approach, we report the mean liability-scaled heritability estimate, standard deviation across the 100 simulations, the range of parameter estimates, and the mean proportional bias relative to the population generating parameter, calculated as (12) Mean%Bias=1100∑r=1100(hl,r2^hl,True2−1) where hl,r2^ is the parameter estimate for a given run, r, and hl,True2 was the population generating value of 15%.