Appendix 1—figure 12. The effect of sex of the proband on the fitness effects of de novo mutations (DNMs) seen in simplex families in autism, combining the trios from the Simons Simplex dataset with the simplex families in MSSNG, and with trios in the SPARK study, of which only a small proportion are known to be from multiplex families.

In each panel, the distribution of fitness effects (DFE) of all possible loss-of-function (LOF) mutations is denoted with a black curve. For n DNMs in a disease cohort, the gray lines denote 100 bootstrapped DFEs of a set of n DNMs randomly sampled from the full set of LOF mutational opportunities. The estimated DFE of de novo LOF mutations in (A) affected males and (B) affected females.