| Feature (% if not specified otherwise) | BGI | Illumina | ||
|---|---|---|---|---|
| v1 | v2 | |||
| Common range | T21 | 1.58 | 1.86 | 1.54 |
| T18 | 0.42 | 0.33 | 0.40 | |
| T13 | 0.23 | 0.19 | 0.21 | |
| SCA | 0.98# | 0.29 | 0.45 | |
| T9, T16, T22 | 0.12 | NA | 0.14 | |
| Other RAAs (excluding T7) | 0.06 | NA | 0.25 | |
| CNV | 0.18 | NA | 0.56 | |
| feedback | 17.24 | NA | 19.64 | |
| true positive CNV | 0 | NA | 54.55 | |
| false negative T21 | 0.044 | 0.028 | ||
| turnaround time (days) | 5.5 | 2.5 | ||
| no-call rate | 0.44 | 0.14 | 0.20 | |
# 50% of FP samples re-tested with Illumina turned out to be negative
The Illumina technology, based on PCR-free, low-coverage WGS, with genome-wide reporting and dynamic fetal fraction incorporation in metrics, enables superior performance in turnaround time, no-call rate as well as false positive and false negative ratios.