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Chunk #61 — 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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We defined the density of independent signals around each GWS SNP as the number of other independent associations identified with COJO within a 100-kb window on both sides. Therefore, a SNP with no other associations within 100 kb has a density of 0, whereas a SNP colocalizing with 20 other GWS associations within 100 kb will have a density of 20. We quantified the standard error of the mean signal density across the genome using a leave-one-chromosome-out jackknife procedure. We then quantified the enrichment of 462 curated OMIM18 genes near GWS SNPs with a large signal density, by counting the number of OMIM genes within 100 kb of a GWS SNP, then comparing that number for SNPs with a density of 0 and those with a density of at least 1. The strength of the enrichment was measured using an 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