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Chunk #6 — RESULTS — Analysis of 48 complex traits across multiple tissues

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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.
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We first analyzed two gene expression data sets — GTEx and a dataset which we call the Franke lab data set — and we classified the 205 tissues and cell types in these data sets into nine categories for visualization (Tables S2 and S3, Online Methods). We analyzed GWAS summary statistics for 48 diseases and traits from the UK Biobank23 (Online Methods), the Brainstorm Consortium16,24–32, and publicly available sources33–43, with an average sample size of 169,331 (Table S4), applying LDSC-SEG for each of the 205 specifically expressed gene annotations in turn. We excluded the HLA region from all analyses, due to its unusual genetic architecture and pattern of LD.