A. Performance of prediction as measured by Precision and Recall
(Sensitivity) using different gene prioritizing methods or an ensemble model as
a function of varying cutoffs. Note that Precision and Recall were estimated
from the relative enrichment of mutations in patients and controls, since the
ground truth whether a gene is a true positive is unavailable in most cases.
B. Similar to (A), but the F measure is shown. F
measure is the harmonic mean of precision and recall and rewards a balance of
the two.
C. Distribution of D-scores and ExAC LOF Z-scores for genes with
recurrent LGD mutations in ASD cases and controls.
D. Distribution of ensemble score among singleton genes in which
damaging de novo mutations observed (red) in the DDD data set
versus the ones not observed (blue). Singleton genes refer to the ones with a
single de novo LGD mutation in autism cases.