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Chunk #40 — Methods — Enrichment 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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< 0.6, with MAF < 1% or with estimated odds ratio > 25 or smaller than 1/25, as well as SNPs located in the MHC region (chr6:25–34 Mb). We set a window of 35 kb upstream to 10 kb downstream of the gene coordinates to compute gene-level association statistics and used the European reference panel from the phase 3 of the 1000 Genomes Project as the reference population113. We then used MAGMA to test whether the 10% most specific genes (with an expression of at least 1 TPM or 1 UMI per million) for each cell type/tissue were associated with BD. The P-value threshold for significance was P < 9.1 × 10−3, representing a 5% false discovery rate (FDR) across datasets.