Клиническое полногеномное секвенирование на платформах MGI DNBSEQ-T7 и DNBSEQ-G400: применение методов низкопокрывного (low-pass), стандартного и глубокого (deep) полногеномного секвенирования
Specifications and clinical attributes of current short-read WGS platforms
combined manufacturer data and independent reports; figures are approximate and depend on instrument version; throughput, run time and Q30/Q40 values are manufacturer-stated maxima for fully loaded flow cells and internal standard libraries; cost figures are vendor list or target prices for sequencing reagents only and exclude library preparation, instrument depreciation, service, labour, QC failures and re-runs, compute, storage and interpretation (see text); the DNBSEQ-G99 is not designed for standard-depth human WGS and is compared separately in Table 2
Attribute | DNBSEQ-T7 (V3.0) | DNBSEQ-T7+ (2025) | DNBSEQ-G400 | Illumina NovaSeq X Plus | Illumina NovaSeq 6000 | Ultima UG 100 |
Chemistry | DNB + cPAS | DNB + cPAS (SM2.0) | DNB + cPAS | SBS (XLEAP) | SBS | Flow-based mnSBS, single-end |
Maximum read length | PE150 | PE150 | PE150 (FCL); PE300 (specific kits) | PE150 | PE150 | ~300 bp single-end |
Maximum output / 24 h | Up to 7 Tb | >14 Tb | ~1.08 Tb / run (~38 h) | Up to ~16 Tb / 48 h | Up to ~6 Tb / 44 h | ~6 Tb / run (≤20 h) |
30× genome capacity per year | ~28,000 | ~33,600 (300-day model) | Mid-throughput, daily operation | 20,000+ | ~7,500 | Thousands |
Run time (PE150) | 22–24 h | <24 h | 37–88 h | 17–48 h | 24–44 h | ~20 h |
Q30 (vendor data) | ≥85% (typically >90%) | Q40 base accuracy | ≥85% | Q40 level (XLEAP) | ≥85% | Q≥60 (ppmSeq); varies in homopolymers |
Cost per 30× WGS (reagents, vendor data) | ~US$150 | ~US$100 ($1/Gb) | Higher | Vendor target ~US$200 | Higher | ~US$80–100 |
SNV F1 (GIAB, independent studies) | 0.995–0.999 (equivalent pipeline) | n/a (new) | 0.995–0.999 | ~0.999 | ~0.999 | ~0.998 (non-masked regions) |
Indel F1 on long homopolymers | High (PE150) | Improving | High | High | High | <0.90 above 8 bp |
Regulatory status (selected) | NMPA Class III (2020); CE-IVD (2022) | CE-IVD in process | NMPA; CE-IVD (2022) | FDA Dx in process | 6000Dx: CE-IVD/FDA cleared | RUO; clinical pilot |