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Figure 5 | Genome Medicine

Figure 5

From: Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

Figure 5

Example ASE effects and direction of ASE effects over different functional classes. (a) ASE of rs12203592 located within the IRF4 gene. The T allele is more abundantly expressed and increases the risk of non-melanoma skin cancers. (b) rs72550870, located in MASP2, shows lower expression for the alternative C allele, known to cause MASP2 deficiency. (c) All significant ASE SNPs were annotated with functional class information. As expected, nonsense mutations often lead to lower expression levels, in contrast to ASE effects in other functional classes.

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