Supplementary Figure 6: Precision–recall (PR) curves for the developmental disorder de novo variant evaluation set.
From: A map of constrained coding regions in the human genome
The true positives are 3,400 missense-only de novo variants from patients with developmental disorders. The true negatives are 1,269 missense de novo variants from the unaffected siblings of autism patients. The dots indicate the score cutoff with the maximal Youden J statistic for each tool. Values in parentheses indicate the F1 score, the weighted average of recall and precision, at the J-score cutoff.
