Fig. 2: Change in likelihood of indicated clinical diagnostic status as a function of PGS-associated HPO phenotype burden for probands who have completed diagnostic testing (N = 984). | Nature Communications

Fig. 2: Change in likelihood of indicated clinical diagnostic status as a function of PGS-associated HPO phenotype burden for probands who have completed diagnostic testing (N = 984).

From: Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

Fig. 2: Change in likelihood of indicated clinical diagnostic status as a function of PGS-associated HPO phenotype burden for probands who have completed diagnostic testing (N = 984).The alternative text for this image may have been generated using AI.

Results are displayed across more stringent PGS Z-score thresholds (from bottom to top of each diagnostic category). Dots indicate the odds ratio from logistic regression (two-sided), error bars indicate 95% confidence interval. P-values passing a threshold of P ≤ 0.05 are indicated in figure. No adjustments were made for multiple comparisons.

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