Extended Data Fig. 2: Comparison of rare de novo variant counts per sample between ASD probands and unaffected siblings across different ancestries, 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 and their unaffected siblings for all ancestries (ALL: 17,480 probands and 6,208 siblings), Admixed American (AMR: 4,450 probands and 1,459 siblings), and non-Admixed American (FuCOMP: 13,030 probands and 4,749 siblings). The analysis considers: (a) protein truncating variants (PTVs) in highly constrained genes (LOEUF deciles 1–3, 5,363 genes) and less constrained genes (LOEUF deciles 4–10, 12,765 genes); (b) missense variants categorized by predicted functional severity (MPC ≥ 2 for high severity, 1 ≤ MPC < 2 for moderate severity); and (c) MPC < 1 (for low severity) and synonymous missense variants. Data are presented as mean values ± 95% confidence intervals. 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 false discovery rate (FDR) method, and exact adjusted P values are shown above the bars.
