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. 2015 Jun 1;24(16):4764–4773. doi: 10.1093/hmg/ddv196

Table 3.

Frequency of de novo variants in CDH cases and controls by top 25% mouse RNA expression compared with expected mutation rate

Class Cases (n = 39)
P-value* Controls (n = 787)
Fold enrichmenta P-value*
Expected Observed Fold enrichmenta Expected Observed
All 9.38 13 1.40 0.154 189.36 193 1.00 0.405
Synonymous 2.63 0 0.00 1.000 53.06 44 0.83 0.909
Missense 6.23 8 1.30 0.288 125.63 126 1.00 0.499
LGD 0.93 5 5.40 0.003 18.86 18 0.95 0.609

Bold fonts indicate significant after Bonferroni correction.

aThe fold enrichment is the ratio of observed variants to expected variants.

*P-values compare the number of observed variants to the number of expected variants using a one-tailed Poisson exact test.