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. 2010 Sep 10;87(3):316–324. doi: 10.1016/j.ajhg.2010.07.019

Table 4.

Base Pairs and DNMs Surveyed among ASD and SCZ Trios with No Family History

Site and Mutation Class Initial Counta CpGb Non-CpG Effective Countc
Functional Nonsynonymous bases 96,065,492 2,689,834 93,375,658 120,273,996
Nonsynonymous DNMs 6 3 3 6
Neutral Synonymous bases 61,481,915 1,721,494 59,760,421 76,975,357
Intronic bases 218,145,769 2,181,458 215,964,311 237,778,888
Silent (synonymous and intronic) DNMs 4 2 2 4
p value One-tail binomial testd 0.003 0.161 0.031 0.008
Fisher's exact test 0.022 0.4041 0.1067 0.032
a

All statistics are calculated with base pairs and DNMs calculated for only trios with unaffected families.

b

Estimated 2.8% of initial coding sites and 1% of initial intronic sites are CpG sites.

c

To account for increased mutation rates: (non-CpG sites) + (10 × CpG sites).

d

P(× ≥ number of functional DNMs | nonfunctional rate).