Table 1 Data source for the variants and pathogenicity interpretation
Data name | Data source | Number of pathogenic variants | Number of neutral variants |
|---|---|---|---|
Training dataset | ClinVar (≥ 1 stars) | 10,370 | 14,954 |
VKGL (≥ 1 lab support) | 581 | 11,129 | |
van der Velde et al. [29] | 30,187 | 274,112 | |
Total * | 40,681 | 293,920 | |
Benchmark dataset | ClinVar (≥ 2 stars) | 5421 | 20 |
VKGL (≥ 2 lab support) | 187 | 11 | |
ExAC | 0 | 5392 | |
Total | 5421 | 5421 | |
Benign Benchmark dataset 1 | Niroula et al. [24] | 0 | 60,699 |
Benign Benchmark dataset 2 | GoNL | 0 | 14,426,914 |