Table 1 Number of variants in overlapping genes imputed by NGS and CEBMPA in 1000 individuals.
Diseases | Genes | Number of pathogenic variants | CEBMPA | |||
|---|---|---|---|---|---|---|
CEBMPA | NGS | Sensitivity (Detection rate) | Specificity | Accuracy | ||
Genetic deafness | GJB2 | 34 | 35 | 97.1% | 100% | 99.9% |
Hepatolenticular degeneration | ATP7B | 26 | 26 | 100% | 100% | 100% |
Genetic deafness | SLC26A4 | 26 | 26 | 100% | 100% | 100% |
Phenylketonuria | PAH | 20 | 20 | 100% | 100% | 100% |
α-Thalassemia | HBA | 18 | 18 | 100% | 100% | 100% |
Methylmalonic acidemia with homocystinuria Cb1C | MMACHC | 15 | 16 | 93.8% | 100% | 99.9% |
Methylmalonic acidemia | MUT | 5 | 7 | 71.4% | 100% | 99.8% |
Tetrahydrobiopterin deficiency | PTS | 5 | 5 | 100% | 100% | 100% |
β-Thalassemia | HBB | 3 | 3 | 100% | 100% | 100% |
Genetic deafness | MT-RNR1 | 0 | 0 | |||
