Table 1 Role of de novo LGDs in simplex and multiplex autism.

From: Rates of contributory de novo mutation in high and low-risk autism families

 

SSC unaffected

Affected

Group

Synonymous number

LGD number

Synonymous number

LGD number

Expected LGD number

Delta

p-value

AD

PC

SSC affected

484

157

499

283

161.9

121.1

8 × 10−07

6.48% (3.85–8.80)

42.8% (27.8–54.3)

AGRE affected

  

309

116

100.2

15.8

0.14

1.42% (−1.25–4.15)

13.6% (−13.4–35.1)

  1. The table shows the numbers of de novo LGDs (“LGD number” columns) identified in 1,874 unaffected children from SSC, 1,869 affected children from SSC and 1,107 affected children the AGRE collection together with the number of de novo synonymous mutations (“synonymous number” columns), used for normalization, identified in the same children. The table also shows the expected number of de novo LGDs (“expected LGD number” column) in the two affected groups under the null model that the incidence of the such variants in the affected children is the same as the incidence in the unaffected children. The rest of the columns quantify the causal role of the de novo LGDs in the affected children from the simplex SSC and the multiplex AGRE collections. The “delta” column shows the excess of the de novo LGDs in the two affected groups. The “p-value” is the probability of achieving a delta larger or equal to the observed one under the null model, computed through permutation of the affect status. The “AD” column shows the ascertainment differential or our estimate of the percent of the affected children that have autism in part due to a de novo LGD; the “PC” column shows the percent contributory statistic that is the percent of the de novo LGDs identified in the affected children that contributed to the disorder. Finally, the table shows the 95% confidence interval for the AD and PC statistics computed by bootstrap. See the Results section for detailed description of the methods used.
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