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Chunk #37 — 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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In order to detect cis-eQTLs, analysis was confined to those probe-SNP combinations for which the distance from the probe transcript midpoint to SNP genomic location was ≤250 kb. For trans-eQTLs, analysis was confined to those probe-SNP combinations for which the distance from probe transcript midpoint to SNP genomic location was ≥5 Mb (to exclude the possibility of accidentally detecting cis-eQTLs due to long ranging linkage disequilibrium). Additionally, for the trans-eQTL analysis the effects of the significant cis-eQTLs were removed from the expression data by keeping the residual expression after linear regression.