Клиническое полногеномное секвенирование на платформах MGI DNBSEQ-T7 и DNBSEQ-G400: применение методов низкопокрывного (low-pass), стандартного и глубокого (deep) полногеномного секвенирования
Coverage vs Application Matrix for DNBSEQ-Platform Clinical WGS
symbol key: ✓✓✓ – well-established clinical use with peer-reviewed evidence on DNBSEQ; ✓✓ – clinical use with strong evidence generated on other platforms (usually Illumina), with analytical concordance data suggesting transferability to DNBSEQ; platform-specific local validation is still required before diagnostic reporting (Section 3.7); ✓ – emerging clinical use; — – generally not indicated
Coverage | NIPT/POC | PGT-A/M/SR | Rare disease (constitutional) | Cancer predisposition (germline) | Solid tumor (somatic) | Hematologic malignancy | ctDNA / MRD | Mosaicism | mNGS | Newborn screening | Population genomics |
0.1–1× | ✓✓✓ | ✓✓✓ | — | — | — | — | — | — | — | — | — |
1–5× | ✓✓ | ✓✓ | — | — | — | — | — | — | ✓ | — | For imputation |
5–30× | — | Research/PGT-P | Lower yield | — | — | — | — | — | ✓✓ | For screening | ✓ |
30× | — | — | ✓✓✓ (rWGS) | ✓✓ | ✓ (with paired normal) | ✓ | — | — | ✓✓✓ | ✓✓ (diagnostic) | ✓✓✓ |
60–100× | — | — | — | — | ✓✓✓ (tumor) | ✓✓ | ✓✓ | ✓ | — | — | — |
>100× | — | — | — | — | ✓✓ (heterogeneity) | ✓✓✓ | ✓✓✓ | ✓✓✓ | — | — | — |