Table 1. Quality control data of 5 OI-associated genes using chip analysis.
Patient | COL1A 1 | COL1A2 | LEPRE1 | FKBP10 | CRTAP | Average Callrate | |||||
---|---|---|---|---|---|---|---|---|---|---|---|
CallRate | RefCalls | CallRate | RefCalls | CallRate | RefCalls | CallRate | RefCalls | CallRate | RefCalls | ||
1 # | 97.3% | 99.9% | 97.00% | 100.00% | 96.80% | 99.80% | 96.50% | 99.80% | 97.30% | 100.00% | 96.98% |
2 # | 97.00% | 100.00% | 97.10% | 99.90% | 96.70% | 99.70% | 96.60% | 100.00% | 97.30% | 100.00% | 96.82% |
3 # | 97.20% | 100.00% | 97.00% | 99.90% | 96.70% | 99.70% | 97.60% | 99.70% | 97.20% | 100.00% | 97.14% |
4 # | 97.30% | 100.00% | 97.10% | 100.00% | 96.70% | 99.80% | 96.60% | 99.70% | 97.30% | 99.90% | 97.00% |
5 # | 96.30% | 100.00% | 97.00% | 100.00% | 96.70% | 99.80% | 96.50% | 99.80% | 97.30% | 99.90% | 96.76% |
6 # | 96.30% | 100.00% | 97.30% | 99.90% | 97.10% | 99.70% | 97.60% | 100.00% | 97.10% | 100.00% | 97.08% |
7 # | 97.30% | 100.00% | 97.20% | 99.90% | 96.80% | 99.80% | 96.60% | 99.70% | 97.10% | 99.90% | 97.00% |
8 # | 97.00% | 99.90% | 96.40% | 99.90% | 96.60% | 99.70% | 96.90% | 99.90% | 97.80% | 100.00% | 96.94% |
9 # | 97.10% | 100.00% | 97.10% | 99.90% | 96.70% | 99.80% | 97.50% | 100.00% | 97.30% | 100.00% | 97.14% |
10 # | 97.30% | 99.90% | 97.10% | 100.00% | 97.10% | 99.80% | 97.40% | 99.70% | 97.20% | 100.00% | 97.22% |
11 # | 97.20% | 100.00% | 97.10% | 100.00% | 96.70% | 99.70% | 97.30% | 99.80% | 97.30% | 99.90% | 97.12% |
12 # | 97.30% | 100.00% | 97.20% | 99.90% | 96.90% | 99.70% | 97.60% | 100.00% | 97.30% | 99.90% | 97.26% |
13 # | 97.10% | 99.90% | 96.30% | 99.90% | 96.80% | 99.80% | 96.90% | 100.00% | 97.30% | 99.90% | 96.88% |