Table 2.
Information of NGS assays of the eight participants.
| Participants | Reagent origin | Input quantity (ng) | Methods to get targeted region | Sequence platform | Average depth | Number of genes in the panel | LOD for SNV | Total reads (M) |
Mapped reads ratio | Targeted reads ratio | Duplication ratio |
|---|---|---|---|---|---|---|---|---|---|---|---|
| #1 | in-house | ≥ 20 | Hybrid capture | NextSeq 550 (Illumina) | 13.0 | 4 | 0.1 | 48.0 | 99.2 | 58.3 | 61.4 |
| #2 | in-house | ≥ 10 | Multiplex PCR | Ion Proton (ThermoFisher) | 113.6 | 7 | 0.2 | 2.8 | 91.5 | 96.8 | / |
| #3 | in-house | ≥ 10 | Hybrid capture | NextSeq CN500 (Berry Genomics) | 2.9 | 6 | 0.1 | 10.5 | 97.4 | 99.4 | 70.7 |
| #4 | in-house | ≥ 10 | Hybrid capture | NextSeq 550AR (Annoroad) | 1.8 | 4 | 0.5 | 8.8 | 99.9 | 99.7 | 65.9 |
| #5 | in-house | ≥ 20 | Hybrid capture | HiSeq X Ten (Illumina) | 42.2 | 63 | 0.1 | 145.4 | 99.9 | 48.2 | 93.0 |
| #6 | in-house | ≥ 20 | Hybrid capture | NextSeq CN500 (Illumina) | 10.0 | 14 | 0.3 | 11.0 | 99.9 | 57.7 | 64.0 |
| #7 | in-house | ≥ 30 | Hybrid capture | NextSeq CN500 (Illumina) | 1.6 | 17 | 0.5 | 35.6 | 99.8 | 63.5 | 75.1 |
| #8 | in-house | 10~30 | Hybrid capture | BGISEQ-500 (BGI) | 4.1 | 27 | 0.2 | 227.2 | 99.7 | 56.5 | / |