Fig. 4

PCNV/UPD detection rate increases with an increase in the number of distinct top-level HPO terms. a A scatterplot showing the trend of PCNV/UPD detection rate as a function of the number of top-level terms. The line represents the fit of a linear model with the shaded area corresponding to the 95% confidence interval. b A bar chart to show the PCNV/UPD detection rate vs number of top-level term for each category of ES divided based on the timing of CMA