Table 1. Comparison of CMA and CNVDetect filtering.
The raw number of CNV calls output by both the CMA method and CNVDetect for each of the 26 patient samples are reported. These raw sets of CNVs are then filtered and the resulting number of CNVs is provided under the CMA Filter and CNV Filter heading. The final number of CNV calls reported using the clinical CMA analysis with manual review is provided for comparison.
| SV Folder Number |
CMA Raw | CMA Filter | CNV Raw | CNV Filter | REPORTED |
|---|---|---|---|---|---|
| 88044 | 183 | 8 | 56 | 29 | 3 |
| 88048 | 148 | 4 | 53 | 24 | 1 |
| 88059 | 125 | 9 | 68 | 42 | 5 |
| 88060 | 158 | 6 | 51 | 28 | 2 |
| 88061 | 101 | 11 | 72 | 47 | 8 |
| 88063 | 126 | 5 | 111 | 89 | 3 |
| 88064 | 177 | 7 | 72 | 42 | 2 |
| 88065 | 207 | 4 | 52 | 25 | 1 |
| 88067* | 834 | 415 | 110 | 73 | 10 |
| 88070 | 300 | 5 | 57 | 37 | 1 |
| 88073 | 329 | 15 | 51 | 28 | 2 |
| 88074 | 202 | 8 | 48 | 25 | 3 |
| 88076 | 391 | 26 | 36 | 19 | 1 |
| 88081 | 250 | 14 | 121 | 68 | 11 |
| 88086 | 152 | 17 | 146 | 89 | 7 |
| 88088 | 153 | 6 | 43 | 20 | 2 |
| 88089 | 193 | 6 | 55 | 22 | 1 |
| 88090 | 283 | 16 | 54 | 24 | 2 |
| 88091 | 135 | 5 | 47 | 25 | 2 |
| 88094 | 160 | 13 | 49 | 29 | 7 |
| 88096 | 221 | 16 | 28 | 10 | 2 |
| 88099 | 261 | 26 | 51 | 36 | 3 |
| 88100 | 120 | 6 | 74 | 47 | 3 |
| 88101 | 327 | 20 | 117 | 72 | 7 |
| 88102 | 144 | 15 | 58 | 34 | 8 |
| 88103 | 163 | 45 | 93 | 63 | 10 |
*
This sample failed QC in CMA processing, but was still analyzed for CNV reporting