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Chunk #22 — ONLINE METHODS — Estimation of LD Score

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LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.
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We examined the effect of varying the window size on our estimates of LD Score, and found that our estimates of LD Score were robust to choice of window size. The mean difference in LD Scores estimated with a 1 cM window and a 2 cM window was less than 1% of the mean LD Score (Supplementary Figure 9), and all LD Scores estimated with window sizes larger than 1 cM had squared correlations > 0.99 (Supplementary Table 7). This observation also addresses concerns about inflation in the LD Score from the intra-European population structure in the 1000 Genomes reference panel. The mean inflation in the 1 cM LD Score from population structure can be approximately bounded by the mean difference between a 1 cM LD Score and a 2 cM LD Score. Since this difference is < 1% of the mean LD Score, we conclude that bias from population structure is not significantly inflating our estimates of LD Score.