Extended Data Fig. 4: Association of genetic burden with various phenotypes for PLPs in recessive ID genes and all other recessive genes, using different constraint scores.
From: Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants
The comparison between PLPs in recessive ID genes (red) and all other recessive genes (blue) for the effects of genetic burden on childlessness, educational attainment (measured in years of education), log-transformed number of ICD-10 diagnoses, and hair color (as a control phenotype). The results are for three different s-het scores: Weghorn (a), Cassa (b), and pLI (c). Colored lines indicate odds ratio (OR; for childlessness and hair color) or effect sizes (ES; estimated regression coefficients) with 99% confidence intervals; dashed gray line indicates the OR = 1 (for childlessness and hair color) or ES = 0, which serve as the reference point. Statistically significant deviations from these points are tested using a two-sided Wald test. The corresponding p-values are displayed in the figure and adjusted for multiple comparisons using the Bonferroni correction. Statistically significant associations are marked with an asterisk.