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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
  1. aVarying effect sizes depending on mutation and recurrence. Odds ratio is calculated as in Sanders et al. [10] (ratio of observed counts of mutations to silent mutations, and then ratio of those odds between siblings to probands)
  2. bMultiple hit models, low effect size per gene. Odds ratios between 1 and 1.1
  3. NA not applicable