Fig. 3: Intolerance of haploinsufficiency in the three gene categories. | Human Genome Variation

Fig. 3: Intolerance of haploinsufficiency in the three gene categories.

From: Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals

Fig. 3

Categorical box-whisker plots of log of pLI (a) and Episcore (b) for gonadal dysfunction (GD), disorders in hormone synthesis or action (HSA), and central causes of hypogonadism (CHG). The x-axis indicates DSD-causative gene categories. The y-axis indicates the log of pLI and Episcore for a and b, respectively. The upper and lower ends of boxes indicate 25% and 75% of each category. Horizontal white lines in the boxes indicate parameter medians. Whiskers in the boxes indicate the minimum and maximum values of each category. Statistically significant differences (Student’s t test) are indicated at the top of the plots. Median values for each parameter are indicated using broken horizontal lines.

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