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

Fig. 2.

Fig. 2

CNV burden differences in VARGs between patients with ASD and controls. (a) Differences in normalized dnCNV abundance (burden) between patients with ASD (n = 15,581) and controls (n = 6,017) for each CNV type in VARGs. (b) Permutation figure of normalized pathogenic dnCNV count in ASD probands between the VARG set and negative control set (10,000 permutations). (c) Differences in normalized ihCNVs abundance (burden between patients with ASD (n = 15,581) and controls (n = 6,017) for each CNV type in VARGs. (d) Forest plots for normalized dnCNV burden differences between female patients with ASD (nfemale = 757) and male patients with ASD (nmale = 3,764), between sex-stratified patients with ASD (nfemale = 757; nmale = 3,764) and controls (nfemale = 874; nmale = 750). (e) Forest plots for normalized dnCNV burden differences between NVIQ-stratified patients with ASD (nNVIQ ≤ 50 = 101, n50<NVIQ ≤ 80 = 273, nNVIQ>80 = 750) and controls (n = 6,017) for each CNV type in VARGs. Rate ratio is defined by the CNV rate (number per subject) in patients with ASD divided by that in controls. NVIQ, non-verbal intelligence quotient. CNV, copy number variation; dnCNV, de novo CNV; ihCNVs, inherited CNV; 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.