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Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

Figure 3

Patterns of ASE across tissues and their influence on rare deleterious variant interpretation.

(A) The distribution of allelic ratios across tissues indicates that most heterozygous sites have bi-allelic expression across all tissues (no ASE, red). A subset of sites exhibits ASE that is consistent between all tissues (shared ASE, blue). However, a small fraction of sites exhibit ASE that is tissue-specific (variable ASE, green). The mean allelic ratio is on the x-axis and the variance (standard deviation) of the allelic ratio is on the y-axis. Allelic ratios were calculated for all sites tested by mmPCR-Seq. The reproducibility between replicates for the three groups (non-ASE, shared ASE and variable ASE), as well as the classification of non-ASE and ASE (shared ASE plus variable ASE) is is 93.3% and 95.7%, respectively. (B) Genes with rare and deleterious nsSNPs were stratified into those that exhibited no ASE (red), shared ASE (blue), and variable ASE (green) across different tissues. The reproducibility of genes classified as shared ASE and variable ASE between replicates is 100%.

Figure 3