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Fig. 2 | Genome Biology

Fig. 2

From: A vast resource of allelic expression data spanning human tissues

Fig. 2

The GTEx v8 haplotype-level allelic expression resource. a Number of genes per tissue with haplotype-level AE data (AE genes) in at least 1 individual versus the median number of samples with data per gene. b Percentage of AE genes with significant allelic imbalance (binomial test, gene-level FDR < 5%) in at least n samples per gene using all samples (blue) or excluding samples heterozygous for any top (FDR < 5%) or independent GTEx eQTL (permutation p < 1e−4) (red). Faded points are values for individual tissues, and solid points are the median across tissues. Proportions above data points indicate the reduction in percentage of AE genes with imbalance after removing eQTL heterozygotes. A full summary of these statistics across tissues and sample thresholds is available in Additional file 3: Table S2. c The effect of the number of heterozygous variants in or proximal to gene promoters (< 10 kb upstream of TSS) on allelic imbalance stratified by minor allele frequency. Plotted values are effect estimates and 95% confidence intervals (see the “Promoter variant effect modeling” section in the “Methods” section)

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