Table 2.
Rate of de novo CNVs in XHMM/CANOES overlapping calls and XHMM and CANOES exclusive calls
CANOES exclusive | XHMM/CANOES overlap | XHMM exclusive | |
---|---|---|---|
Total number of calls in probands | 187 | 355 | 166 |
de novo (percentage of total) | 3 (1.6%) | 10 (2.8%) | 39 (23.5%) |
This table compares the number of total and high confidence de novo CNV calls in the XHMM (quality ≥ 57)/CANOES (quality ≥ 0) overlapping set, the XHMM (quality ≥ 57) exclusive set and the CANOES (quality ≥ 80) exclusive set. The CANOES quality threshold of 80 was selected because at this quality threshold CANOES makes nearly the same number of calls in probands as does XHMM at 57. A call was considered to be de novo in a child at a certain threshold if its ‘SQ’ quality exceeded the threshold and the ‘NQ’ quality in each parent also exceeded the threshold.