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Chunk #48 — Methods — Comparison of cerebellar eGWAS results with other published complex disease and trait GWAS

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Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
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To assess whether the number of observed cisSNPs that have both significant cerebellar eGWAS and disease/trait associations represent a significant enrichment, we performed simulations while adjusting for cisSNP minor allele frequencies, as previously reported [3]. We performed 1 million simulations and adjusted for the minor allele frequencies of all the tested cisSNPs in 10 bins from 0–0.05 to 0.45–0.50. Using the total number of cisSNPs that are both transcript and disease/trait associating for each simulation, we obtained an empirical p value and an estimate of fold-enrichment.