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Chunk #62 — Methods — Density of GWS signal and enrichment near OMIM genes

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A saturated map of common genetic variants associated with human height.
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odds ratio calculated from a 2×2 contingency table: 'presence/absence of an OMIM gene' versus 'density of 0 or larger than 0'. To assess the significance of the enrichment, we simulated the distribution of enrichment statistics for a random set of 462 length-matched genes. We used 22 length classes (<10 kb; between i × 10 kb and (i + 1) × 10 kb, with i = 1,…,9; between i × 100 kb and (i + 1) × 100 kb, with i = 1,…,10; between 1 Mb and 1.5 Mb; between 1.5 Mb and 2 Mb; and >2 Mb) to match OMIM genes with random genes. OMIM genes within a given length class were matched with the same number of non-OMIM genes present in the class. We sampled 1,000 random sets of genes and calculated for each them an enrichment statistic. Enrichment P value was calculated as the number of times enrichment statistics of random genes exceeded that of OMIM genes. The list of OMIM genes is provided in Supplementary Table 11.