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Chunk #51 — Methods — Tissue and cell-type enrichment analysis

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Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.
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An analysis of tissue and cell-type enrichment of OCD GWAS association signals was conducted using MAGMA (v1.08)106 and partitioned LD score regression107. We employed Bryois et al.’s approach29 to determine gene expression specificity in bulk tissue RNA-seq data from 37 tissues in GTEx (v8) and single-cell RNA sequencing data from 19 regions in the mouse central and peripheral nervous systems30. The analysis was limited to protein-coding genes with 1:1 orthologs between mice and humans. Gene expression in each tissue or cell type was calculated relative to total expression across all tissues or cell types. Enrichment analysis was performed on genes with the top 10% specificity values in each tissue or cell type, as previously defined29.