Fig. 4.

Deleterious singletons identified in SORL1, ABCA7, MCM8, and ASPM. (Genes are not drawn to scale.) We developed a rare variant collapsing burden test similar to what was applied to copy number variations in autism [43] but modified for deleterious singleton SNPs. We compared female cases (n = 1208) with female controls (n = 2162) and compared total cases (n = 2161) with total controls (n = 3657). The genes depicted above have both FDR < .05 and P value < .05. Abbreviations: SNPs, single-nucleotide polymorphism; FDR, false discovery rate. (Please see Supplementary Tables for mutation coordinates).