Адаптивное секвенирование Oxford Nanopore: механизмы, сравнительная эффективность и клиническое значение программно-управляемого таргетного секвенирования
Comparison of adaptive sampling with conventional targeted-sequencing methods
HMW, high-molecular-weight; HW, hardware. Values are indicative and vary with sample type, read length, and reference composition (see Sections 3.2.3 and 4.2)
Attribute | Adaptive Sampling | PCR Amplicon | Hybridization Capture |
On-target enrichment | Modest (~1.5–5× yield-adjusted; 3.6–10× coverage) | Very high (hundreds–thousands-fold) | High (hundreds-fold) |
Coverage uniformity | Intermediate; reference-dependent | Lower than capture; amplification bias | Excellent |
Target-specific library prep | None (BED file only) | Locus-specific primers | Biotinylated probe panel |
Turnaround | Hours to days | Short | Long (overnight hybridization) |
DNA input | Moderate–high (HMW required) | Lowest | High |
Structural-variant resolution | Excellent (long native reads) | Poor (amplicon-sized) | Good for large/novel events |
Native base modifications | Preserved | Erased | Erased |
Re-targeting flexibility | Immediate (edit BED file) | New primers required | New probes required |
Computational/HW overhead | High (real-time GPU) | Low | Low–moderate |