Table 1. Summary of de novo SNVs contributiona.
ASD (n=192) | Control (n=258) | odds ratio (P) | |
---|---|---|---|
Germline | |||
All | 9,774b | 11,020 | — |
Coding | 193 (1.98%) | 136 (1.23%) | 1.38 (5.0×10−3) |
Predicted damaging | |||
All | 244 | 141 | 1.84 (8.0×10−9) |
Coding | 151 (61.9%) | 97 (68.8%) | 1.53 (1.3×10−3)c |
Genic non-coding | 55 (22.5%) | 23 (16.3%) | 2.59 (7.0×10−5)c |
Non-genic non-coding | 38 (15.6%) | 21 (14.9%) | 2.14 (4.3×10−3)d |
Abbreviation: SNV, single nucleotide variant.
Comparison was based on a logistic regression model with GC content correction (see Materials and methods).
Somatic mutations (n=613) were removed.
All exonic and intronic variants as the universe.
All non-exonic variants as the universe.