Fig. 5
Comparison of the total rate of different classes of variants. Comparison was performed in cases vs. genetically matched controls and in mild vs. more severe ID individuals for which both exome and CNV data was available. On the left the number of carriers and total individuals are given and in parenthesis the proportion of carriers. Circles indicate odds ratio and lines indicate 95% confidence intervals of the odds ratio estimate. a Total genetic diagnostic rate. b Variant classes in “Likely pathogenic” variant categories. c Comparison of the rate of identifying different classes of variants in mild vs. severe (moderate and profound ID combined) patients. d Comparison of the rate of variant types in “Likely pathogenic” category between mild and more severe forms of ID (moderate, severe and profound ID combined). Constrained missense (MPC > 2) variants were analyzed in all genes instead of only high pLI genes in C and D as MPC score incorporates regional missense constraint. Source data are provided as a Source Data file
