Region | Sample | Chr | Size(SNPs) | % Mosaic | triPOD | PSCN | MAD | BAFseg | genoCNA | PennCNV |
---|
1 | AU031003 | 5 | 9664 | 2.1 - 6.4 |
0.96
| 0.02 | 0 | 0.02 | 0.06 | 0 |
2 | AU036104 | 22 | 4970 | 4.9 - 12.6 |
0.89
| 0.02 | 0 | 0 | 0 | 0 |
3 | AU051503 | 7 | 7707 | 3.7 - 10.7 |
0.69
| 0.03 | 0 | 0 | 0 | 0 |
4 | AU068604 | 5 | 1499 | 5.6 - 16.5 |
1
| 0 | 0 | 0 | 0 | 0 |
5 | AU072004 | 1 | 19981 | 6.5 - 18.7 |
1
|
0.93
| 0 | 0.03 | 0.05 | 0 |
6 | AU073006 | 8 | 1710 | 8.4 - 24 |
0.97
|
0.87
|
0.99
| 0.05 | 0 | 0 |
7 | AU0871303 | 11 | 5219 | 2.8 - 8.1 |
0.99
| 0 | 0 | 0.02 | 0.03 | 0 |
8 | AU1271304 | 9 | 3202 | 2.5 – 6.8 |
0.73
|
0.39
| 0 | 0.01 | 0.02 | 0 |
9 | AU1285302 | 13 | 7455 | 7.3 – 21.5 |
1
|
1
|
0.93
|
1
|
0.91
| 0 |
10 | AU1346302 | 19 | 3241 | 6.7 - 19.2 |
1
|
0.45
| 0 | 0 | 0 | 0 |
11 | AU1462303 | 9 | 15601 | 2.2 - 6.0 |
0.81
|
0.48
| 0 | 0 | 0 | 0 |
12 | AU1585303 | 9 | 15421 | 2.8 - 8.1 |
0.92
| 0.02 | 0 | 0.01 | 0.07 | 0 |
- The sensitivity of abnormal region detection for 12 samples in the AGRE autism dataset harboring a large low-level mosaic abnormality is presented. The samples were analyzed by triPOD, BAFsegmentation (unpaired), genoCNA, MAD, PennCNV joint, and PSCN. (Sensitivity results < 0.01 are reported as 0). The % Mosaic column is the estimated percent mosaicism calculated, using BAF values >= the baseline median and < 0.7, as the ratio of the distance of the abnormal BAF median from the baseline median and the expected distance of a 100% mosaic abnormality from the baseline median. For low-level mosaicism, the type of abnormality is difficult to distinguish based on LRR values, thus a range is provided to account for regions resulting from a deletion or UPD event (smaller percentage) or an amplification.