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Chunk #7 — Online methods — Trans-eQTL replication

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Systematic identification of trans eQTLs as putative drivers of known disease associations.
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Replication of the trans-eQTL results was carried out in five independent datasets from four cohorts, including data obtained from lymphoblastoid cell lines (HapMap3, N = 60424), B-cells and monocytes (Oxford9, N = 282 and N = 283, respectively), and whole peripheral blood (KORA F422, N = 740, and BSGS23, N = 862). All the cohorts applied the same methodology as used in the discovery phase to normalize the gene expression data, check for sample mix-ups and perform trans-eQTL mapping, including 10 permutations in order to establish the FDR threshold at 0.05. Finally, we performed a sample-size weighted Z-score meta-analysis on the two peripheral blood replication cohorts (KORA and BSGS). Further details on these datasets can be found in the Supplementary methods.