de novo variant associated_with probands

When comparing TD probands versus SSC controls, we utilized a one-sided test ... given the prior evidence for the role of de novo mutations in TD

observed mutation rate in probands (based on 199 de novo damaging mutations …)

compare the number of observed de novo variants of a particular class in probands versus siblings

5.8% of probands versus 1.7% in siblings

distribution of de novo CNVs in probands

To determine the probability of finding multiple rare de novo CNVs at the same location in probands...

rare de novo CNVs in probands tended to be larger than in siblings (mean 1.6Mb vs. 0.7Mb)

The presence of multiple regions showing overlapping rare de novo CNVs restricted to probands...

we investigated these events in probands versus their unaffected siblings

overlap with rare transmitted events restricted to probands

de novo CNV status for probands as the outcome