Table 1. Comparison of clinical next-generation sequencing test.
| Charateristics | DPS | DES | DGS | |
|---|---|---|---|---|
| Genome coverage | Low | Intermediate | High | |
| Sequencing depth | High | Intermediate | Low | |
| Number of genes | Up to thousands | More than 20,000 | More than 20,000 | |
| Capture bias | Yes | Yes | No | |
| Diagnostic yield | ||||
| SNV/INDEL | High | High to intermediate | High | |
| Intron variant | Low | Low | High | |
| CNV | Intermediate | Intermediate | High | |
| Gene rearrangement | Low | Low | High | |
| Re-analysis potential | Low | Intermediate to high | High | |
| Cost | Low | Intermediate | High | |
DPS: diagnostic gene panel sequencing, DES: diagnostic exome sequencing, DGS: diagnostic genome sequencing, SNV: single nucleotide variant, INDEL: insertion and deletion, CNV: copy number variation.