Extended Data Figure 6: Measuring cis-regulatory variation using ASE.
From: Genetic effects on gene expression across human tissues
a, Proportion of protein-coding genes with ASE data in at least one tissue as a function of donors (top row) and with significant imbalance (binomial test versus 0.5, 5% FDR) stratified by ASE effect size (|log2(hapa count/hapb count)|) deciles. Gene-level measurements of haplotype expression were calculated by aggregating counts per sample across all heterozygous variants with ASE data within the gene using population phasing. The following filters were applied on ASE data: total coverage ≥8 reads, no mapping bias in simulations76, UCSC mappability > 50, and no significant (FDR > 1%) evidence that variant is monoallelic in expression data75. b, log2 transformed cis-eQTL effect size (x-axis) versus log2 transformed ASE effect size (y-axis) for whole blood (Spearman’s ρ = 0.82) and c, subcutaneous adipose (Spearman’s ρ = 0.74).
