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Chunk #48 — Online Methods — Simulations: out of sample LD

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Partitioning heritability by functional annotation using genome-wide association summary statistics.
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In this paper, we use LD scores computed from an out-of-sample reference panel. To evaluate this, we used the summary statistics simulated above, but ran stratified LD score regression using a 1000G reference panel rather than in-sample LD. We found that estimates of total hg2 and category-specific hg2 were biased downwards, but that estimates of proportion of hg2 were approximately unbiased and type 1 error was well calibrated (Supplementary Figure 4).