Extended Data Fig. 2: Rate of de novo variants in 100KGP rare disease cohort in predicted R-loop forming sequences.
The ‘noRL’ group denotes regions that are predicted to form R-loops based on sequence context but lack experimental evidence. The ‘RL’ group denotes regions that are predicted to form R-loops based on sequence context and are supported by experimental evidence. ***P < 0.001 (two-sided Wilcoxon test, n = 1,000). Violins extend from minimal to maximal data points. Box plots are centered on median with interquartile ranges as outer bounds, error bars as s.e.m. and outliers as dots. Mutation rate represents de novo variants per bp per generation. Data underlying this plot are provided as source data.
