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Chunk #38 — Materials and Methods — eQTL mapping

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Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.
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Association for cis- and trans-eQTL was tested with a non-parametric Spearman's rank correlation. For directly genotyped SNPs we coded genotypes as 0, 1 or 2, while for imputed SNPs we used SNP dosage values, ranging between 0 and 2. When a particular probe-SNP pair was present in both the HT12 and H8v2 datasets, an overall, joint p-value was calculated using a weighted (square root of the dataset sample number) Z-method.