Table 1.
Increased burden of pSNMs in ASD probands versus unaffected siblings
| Total number of pSNMs | ||||||
|---|---|---|---|---|---|---|
| Proband | Sibling | |||||
| Category | N = 732/2,321 | N = 571/1,779 | OR (95% CI) | P value | ||
| Yale PGM‐validated child pSNMs | Child pSNMs with high MAF | All | 25 | 18 | NA | 0.447 |
| Missense/LoF | 15 | 4 | 5.25 (3.88, 6.62) | 0.022 | ||
| Other | 10 | 14 | NA | 0.926 | ||
| Child pSNMs with low MAF | All | 85 | 71 | NA | 0.606 | |
| Missense/LoF | 39 | 38 | 0.74 (0.10, 1.37) | 0.801 | ||
| Other | 46 | 33 | NA | 0.295 | ||
| SSC de novo SNPs with detectable parental mosaicism (only present in one child) | Parental pSNMs with high MAF | All | 25 | 17 | NA | 0.351 |
| Missense/LoF | 8 | 8 | 0.53 (0, 1.80) | 0.704 | ||
| Other | 17 | 9 | NA | 0.183 | ||
| Parental pSNMs with low MAF | All | 59 | 26 | NA | 0.012 | |
| Missense/LoF | 28 | 10 | 1.45 (0.50, 2.39) | 0.016 | ||
| Other | 31 | 16 | NA | 0.143 | ||