Table 1 Disease gene sets used in the study
From: Strength of functional signature correlates with effect size in autism
Gene set | Set size (genes) | Odds ratios/effect sizes | Rank |
|---|---|---|---|
WES resultsa | |||
 De novo loss-of-function, recurrent | 27 | 4.1 | 11 |
 De novo CNVs | 72 | 3.95 | 10 |
 De novo missense, recurrent | 153 | 1.6 | 9 |
 De novo loss-of-function | 341 | 1.5 | 8 |
 De novo missense | 1339 | 1.06 | 5 |
GWASb | |||
 GWAS, reported genes | 49 | 1.08 | 7 |
 GWAS, adjacent genes to SNP | 116 | 1.08 | 6 |
Control sets, no effect | |||
 De novo silent | 590 | NA | 2.5 |
Control groups, no disease | |||
 De novo loss-of-function (sibling controls) | 174 | NA | 2.5 |
 De novo missense (sibling controls) | 1066 | NA | 2.5 |
 De novo silent (sibling controls) | 468 | NA | 2.5 |