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. Author manuscript; available in PMC: 2019 Feb 20.
Published in final edited form as: Nat Genet. 2018 Aug 20;50(9):1327–1334. doi: 10.1038/s41588-018-0192-y

Figure 1. Regulatory variants as modifiers of coding variant penetrance.

Figure 1.

The hypothesis of this study is illustrated with an example where an individual is heterozygous for both a regulatory variant and a pathogenic coding variant. The two possible haplotype configurations would result in either decreased penetrance of the coding variant if it was on the lower expressed haplotype, or increased penetrance of the coding variant if it was on the higher expressed haplotype. See Supplementary Figure 1 for a quantitative description of the model.