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Chunk #81 — Online Methods — Identifying Genes Containing Significant GWAS Loci

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Integrated Single-Cell Multiomic Profiling of Caudate Nucleus Suggests Key Mechanisms in Alcohol Use Disorder.
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The two GWAS studies (Saunders, et al.3 and Zhou et al.5) utilized in this study defined a locus as the region including all variants in linkage disequilibrium of r2> 0.1. For the present study, all 1,307 loci associated with the drinks per week (DrnkWk) phenotype from Saunders et al. were selected. To find genes overlapping with these regions, gene annotations from UCSC Genome Browser for the hg38 genome assembly (implemented in the TxDb.Hsapiens.UCSC.hg38.knownGene R package102) were used. This identified 3,406 genes. A comparable process was used to select genes overlapping loci from the Zhou et al. study. All 75 loci associated with the problematic alcohol use phenotype were selected, which overlapped with 750 known genes from the UCSC annotations.