Table 4 Role of one-gene de novo CNVs in simplex autism.

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

 

SSC unaffected

SSC affected

effect

CNV number

CNV rate

CNV number

CNV rate

expected CNVs number

delta

p-value

AD

PC

all

53

0.028

75

0.040

52.9

22.1

0.027

1.18% (−0.03–2.34)

29.5% (−0.7–50.9)

coding

31

0.017

41

0.022

30.9

10.1

0.12

0.54% (−0.28–1.42)

24.6% (−16.4–53.7)

intercoding intronic

11

0.006

26

0.014

11.0

15.0

0.0068

0.80% (0.22–1.47)

57.8% (20.7–82.3)

peripheral

4

0.002

5

0.003

4.0

1.0

0.34

0.05% (−0.27–0.37)

20.2% (−304.9–100.0)

  1. The increased power for CNV detection through whole-genome sequencing allowed us to examine the role small CNVs that affect a single gene. We analyzed all de novo CNVs including the ones smaller than 4KB and focused on the 1,874 unaffected and the 1,869 affected children from SSC. We quantified the role of all single-gene de novo CNVs (labeled as ‘all’) in the effect columns and separately for the non-overlapping subsets labeled as ‘coding’, ‘intercoding intronic’ and ‘peripheral’ (see Fig. 2 for definition of these terms). The format of the table and the analysis was identical to what is described in the Table 2’s legend.
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