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. Author manuscript; available in PMC: 2022 Feb 23.
Published in final edited form as: Cell Rep. 2021 Oct 12;37(2):109807. doi: 10.1016/j.celrep.2021.109807

Figure 4. Combined ASE analysis in human islets.

Figure 4.

(A) Overview of the cASE analysis, with IAPP as example of a gene with an imbalanced reporter variant, rs12826421.

(B) Manhattan plot of cASE, positive values refer to reference-biased genes, negative to alternate.

(C) Significant cASE genes are enriched for islet-specific expression and proximity to islet-regulatory regions. p values for 1% FDR eQTL enrichments are shown.

(D) Gene Ontology analysis of cASE significant genes.

(E) In genes with significant cASE, the proportion of those also identified as eGenes grew with increasing cASE magnitude.

(F) Total number of cis-regulated genes (top) and of islet-specific expressed (bottom), identified only by the eQTL analysis (green), cASE (purple), and both (orange).