Fig. 2.

Posterior probabilities for a gene to be a vulnerable autism target. A decreased load of rare LGD mutations is used to prioritize targets of DN LGD mutation. We have different confidence (priors) in targets of DN LGD mutations from affected children, based on the number of recurrent hits as well as nonverbal IQ. The diagram shows each of 2,702 targets of LGD mutation or missense DN mutation in ASD (10, 18); the symbol color and size depend on the prior confidence. The degree of UR LGD depletion is then used to update our confidence (posteriors) for all genes, and these results are displayed on the x axis. We use parents from the SSC, in addition to a collection of individuals from the EVS, to measure the degree of LGD depletion. It is possible that some SSC parents carry UR LGD mutations that have been ascertained because they caused autism in their affected children upon transmission. To address the ascertainment of causative variants in parents, we repeated the posterior computation after removing all UR LGD mutations that have been transmitted to an affected child. Readjusted posteriors are shown on the y axis. (Right) Bar graph represents histograms of the readjusted posteriors (y axis), split by the priors. The dotted line at a score of 0.8 represents an approximate threshold for candidacy as a causal autism gene.