Fig. 3: Isoform expression potentially mediates far more GWAS signal than gene expression. | British Journal of Cancer

Fig. 3: Isoform expression potentially mediates far more GWAS signal than gene expression.

From: Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level

Fig. 3

a The number of independent GWAS loci tagged by TWAS (red) or isoTWAS (green) or both in common (gold). b Boxplots of CoLocalization Posterior Probability (CLPP, Y-axis, square-root axis) of GWAS and gene expression QTL (red) and isoform expression QTL (green) for genomic loci with a GWAS P < 5 × 10−8 and QTL P < 10−6. c Ratio of gene- (red) and isoform-level (green) expression mediated heritability (h2med) and total SNP heritability (h2) with standard errors. Asterisks indicate FDR-adjusted P-value of Wald-type Z tests of h2med/h2 = 0. (*) indicates FDR-adjusted P < 0.05, (**) P < 0.01, (***) P < 0.005.

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