Fig. 4

Detection of interaction eQTLs in heterogeneous biopsies. An interaction term was added to the eQTL model to identify ieQTLs, which are likely to be cell-type specific. A Total number of ieGenes identified using all patients for each cancer type. As for Fig. 1, the degree of ieGene sharing is also indicated. B GO enrichment terms related to the ieQTLs. The three GO categories were considered separately. C ieQTL associations in high and low-purity tumors as defined by the upper and lower tertiles of the Consensus Purity Estimate score (Methods). Germline variants are associated with CD1E expression in only low-purity but not in high-purity ER + breast tumors (upper panel), but are associated with AKR1C3 expression in high but not in low-purity ER + breast tumors (middle panel). In thyroid cancer, an ieQTL is associated with BCL7A expression in both high and low-purity tumors but in opposite directions (lower panel). Q-values indicate the adjusted p-values (Methods) associated with the interaction term in the eQTL model