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. Author manuscript; available in PMC: 2017 Oct 10.
Published in final edited form as: Nat Genet. 2017 Apr 10;49(5):700–707. doi: 10.1038/ng.3840

Figure 3. Outlier gene expression in Sardinian trios.

Figure 3

(a) An example of a significant gene expression outlier effect that segregates in a single Sardinia trio. The father and daughter both under express the RINL gene and share a rare splicing variant. (b) A scatterplot showing the sharing of extreme gene expression patterns between parents and children in 61 Sardinian trios, with significant outliers highlighted (orange = 5% FDR and yellow = 10% FDR). (c) Heterozygous sites in outlier genes show elevated levels of allelic imbalance (AI) in outlier individuals (red) versus the rest of the population (gray). Allelic imbalance (AI) measures the absolute deviance of the reference allele ratio from 0.5 at heterozygous sites. (d) Correlation matrices for gene expression and allele-specific expression within outlier trios suggest that the extreme regulatory effects are restricted to the affected individuals and not primarily a family-specific event due to a shared environment. (e) The relationship between outlier gene expression and allelic imbalance (AI) in outlier (red) and non-outlier (gray) individuals. The mean ± one s.d. is shown for each bin.