From: SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay
De novo CNVs | SNP 6.0 | 2.7Â M | Omni | CytoSNP | CGX-12 a | All arrays |
---|---|---|---|---|---|---|
Total | 139 | 150 | 35 | 8 | 56 | 388 |
Gains | 108 | 121 | 7 | 4 | 25 | 265 |
Losses | 31 | 29 | 28 | 4 | 31 | 123 |
Range per patient | 0-17 | 0-20 | 0-4 | 0-2 | 0-7 | 10-30 |
Median per patient | 7 | 6 | 2 | 0 | 3 | 16 |
Average per patient | 6.6 | 7.1 | 1.7 | 0.4 | 2.7 | 18.5 |
Benign (% of total) | 36 (25.9%) | 1 (0.7%) | 14 (40.0%) | 1 (12.5%) | 51 (91.1%) | 103 (26.5%) |
Gains | 22 | 0 | 3 | 1 | 23 | 49 |
Losses | 14 | 1 | 11 | 0 | 28 | 54 |
Range per patient | 0-3 | 0-1 | 0-4 | 0-1 | 0-7 | 2-13 |
Median per patient | 2 | 0 | 0 | 0 | 3 | 5 |
Average per patient | 1.7 | 0.0 | 0.7 | 0.05 | 2.4 | 4.9 |
Nb of patients (%) | 17 (81.0%) | 1 (4.8%) | 7 (33.3%) | 1 (4.8%) | 20 (95.2%) | 21 (100.0%) |
Unclear (% of total) | 89 (64.0%) | 139 (92.7%) | 10 (28.6%) | 3 (37.5%) | 1 (1.8%) | 242 (62.4%) |
Gains | 75 | 115 | 1 | 2 | 1 | 194 |
Losses | 14 | 24 | 9 | 1 | 0 | 48 |
Range per patient | 0-15 | 0-19 | 0-2 | 0-1 | 0-1 | 5-24 |
Median per patient | 4 | 6 | 0 | 0 | 0 | 9 |
Average per patient | 4.2 | 6.6 | 0.5 | 0.1 | 0.05 | 11.5 |
Nb of patients (%) | 20 (95.2%) | 19 (90.5%) | 7 (33.3%) | 3 (14.3%) | 1 (4.8%) | 21 (100.0%) |
Pathogenic (% of total) | 6 (4.3%) | 7 (4.7%) | 5 (14.3%) | 4 (50.0%) | 4 (7.1%) | 26 (6.7%) |
Gains | 3 | 4 | 2 | 1 | 1 | 11 |
Losses | 3 | 3 | 3 | 3 | 3 | 15 |
Range per patient | 0-4 | 1-2 | 0-3 | 0-2 | 0-2 | 1-13 |
Median per patient | 0.5 | 1 | 0.5 | 0.5 | 0.5 | 3 |
Average per patient | 1.0 | 1.2 | 0.8 | 0.7 | 0.7 | 4.3 |
Nb of patients (%) | 3 (14.3%) | 6 (28.6%) | 3 (14.3%) | 3 (14.3%) | 3 (14.3%) | 6 (28.6%) |
False positive (% of total) | 8 (5.8%) | 3 (2.0%) | 6 (17.1%) | 0 (0.0%) | 0 (0.0%) | 17 (4.4%) |
Gains | 8 | 2 | 1 | 0 | 0 | 11 |
Losses | 0 | 1 | 5 | 0 | 0 | 6 |
Range per patient | 0-2 | 0-1 | 0-2 | 0 | 0 | 1-4 |
Median per patient | 1 | 0 | 0 | 0 | 0 | 1 |
Average per patient | 0.8 | 0.3 | 0.6 | 0.0 | 0.0 | 1.7 |
Nb of patients (%) | 6 (28.6%) | 3 (14.3%) | 4 (19.0%) | 0 (0.0%) | 0 (0.0%) | 10 (47.6%) |