In recent years, more work has been completed to establish the role of rare genetic variants in neuropsychiatric disorders, 87 , 125 , 126 including single nucleotide variants (SNVs) from whole genome or whole exome sequencing and CNVs, which can be either de novo or inherited mutations. Although these variants occur at low frequency, it is assumed that they would have a large effect. 127 As described previously, there has been shown to be a “female‐protective effect” in ASD, which is supported by the higher incidence of these high impact rare variants among affected females than affected males. 128
