Fig. 2: Comparison of rare de novo variant counts per sample between ASD probands and unaffected siblings, normalized to synonymous variant rates.
From: Deleterious coding variation associated with autism is shared across ancestries
The average number of rare variants per sample, normalized by the synonymous de novo variant rate, is compared between ASD probands (n = 4,450) and unaffected siblings (n = 1,459) of AMR ancestry. a–c, The analysis includes PTVs in highly constrained genes (LOEUF deciles 1–3, 5,363 genes) and less constrained genes (LOEUF deciles 4–10, 12,765 genes) (a); missense variants categorized by predicted functional severity (MPC ≥ 2 for high severity, 1 ≤ MPC < 2 for moderate severity) (b); and MPC < 1 (for low severity) and synonymous missense variants (c). Data are presented as mean values ± 95% CIs. Statistical significance was assessed using two-sided z-tests comparing normalized de novo mutation rates between probands and siblings. P values were adjusted for multiple comparisons using the Benjamini–Hochberg FDR method, and exact adjusted P values are shown above the bars.
