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Chunk #8 — Results — Brain eGWAS

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Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
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The top 2,980 cerebellar eGWAS associations were followed up in the temporal cortex validation study. We found that 2,685 top cerebellar cisSNP/transcript associations could be tested in the temporal cortex (2,387 unique cisSNPs, 677 unique probes and 625 unique genes) (Figure 1, Table 3, Supplementary Table 6 in Dataset S1). A total of 2,089 of these (1,888 unique cisSNPs, 502 unique probes and 471 unique genes) were significant after study-wide Bonferroni corrections, many of which had effect sizes showing remarkable similarity to those from the cerebellar eGWAS (Pearson's correlation coefficient = 0.94, p<0.0001).