Skip to main content
. 2023 May 16;21:3109–3123. doi: 10.1016/j.csbj.2023.05.015

Fig. 1.

Fig. 1

Mutational burden differences in VARGs between patients with ASD and controls. (a) Differences in DNM frequency (burden) between patients with ASD (n = 6,511) and controls (n = 3,391) for each mutation type in VARGs. (b) Differences in DNM frequency (burden) between ASD probands and controls for functional and LoF DNMs in VARGs based on the data from the study of Zhou et al. (nASD = 15,552 and ncontrol = 5,764) and that of Fu et al. (nASD = 14,841 and ncontrol = 5,492). (c–e) Permutation figures for functional DNM count in ASD probands between the VARG set and the negative control sets (10,000 permutations) for the discovery DNM cohort (c), and two validation cohorts (d, e). (f) Differences in RIV frequency (burden) between patients with ASD (n = 1,786) and controls (n = 1,786) for each mutation type in VARGs. DNM, de novo mutation; RIV, rare inherited variants. VARGs, vitamin A-related genes; LoF, loss-of-function; P values were calculated by the rate ratio test and corrected by the function of “p.adjust” with FDR method. *FDR< 0.05; * *FDR< 0.01; * **FDR< 0.001.