Fig. 4: Comparison of phenotypic distributions amongst differential definitions of carrier status and tails of noncarrier PRSs. | Nature Communications

Fig. 4: Comparison of phenotypic distributions amongst differential definitions of carrier status and tails of noncarrier PRSs.

From: Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

Fig. 4

Red indicates non-carriers with mean phenotype equivalent or more extreme than curated pathogenic variant carriers: monogenic obesity (A), high HDL (B), and high triglycerides (C). Only MODY (D), LDL-lowering (E) and high LDL (F) curated pathogenic variant carriers had more extreme phenotypes than noncarriers in PRS tails. Error bars are based on 95% confidence intervals. Additional carriers were identified by using ClinVar and ESM1b. Pathogenic/likely pathogenic ClinVar variants in monogenic genes were identified with different filtering stringency (”weak”—less stringent filtering, “strong”—more stringent filtering), and potentially pathogenic missense variants with unknown function were identified with ESM1b < −7.5. ClinVar variants are not included in (E) and (F) because pathogenic variants were not denoted as high LDL or low LDL effect.

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