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Chunk #4 — Results — eQTL integrative analyses.

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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.
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We conducted a transcriptome-wide association study (TWAS) using FUSION42 and eQTL data from the PsychENCODE Consortium (1,321 brain samples)43. BD-associated alleles significantly influenced expression of 77 genes in the brain (Supplementary Table 9 and Supplementary Fig. 3). These genes encompassed 40 distinct regions. We performed TWAS fine-mapping using FOCUS44 to model the correlation among the TWAS signals and prioritize the most likely causal gene(s) in each region. Within the 90%-credible set, FOCUS prioritized 22 genes with a posterior inclusion probability (PIP) > 0.9 (encompassing 20 distinct regions) and 32 genes with a PIP > 0.7 (29 distinct regions) (Supplementary Table 10).