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Chunk #31 — Materials and Methods — Master Regulator Enrichment Analysis

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Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS.
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A similar enrichment analysis was simultaneously conducted on the number of master regulators, defined as eQTLs which control the expression of at least 10 genes at a given expression p-value. As before, this analysis was done across a range of p-values thresholds (10−8 to 10−4) to establish robustness. We also investigated whether the enrichment of master regulators or eQTL hot spots in the NHGRI list depends crucially on the number of target genes (10, 50, 100, 1000) in the definition (Figure S4).