Long-read sequencing (PacBio, Oxford Nanopore)
Reading DNA in very long stretches, which reveals rearrangements and methylation that short-read machines miss.
PacBio HiFi and Oxford Nanopore reads span kilobases, resolving structural variants, phasing, repeat expansions, and base modifications in one run. In oncology: rapid intraoperative methylation classification of brain tumours (nanopore, under an hour), fusion detection, and complex rearrangement mapping. Cost per genome is approaching short-read levels; accuracy is now clinical-grade for HiFi.
How it works
Single-molecule real-time fluorescence (PacBio) or ionic current through a protein nanopore (ONT) reads native or circular-consensus molecules without amplification.
- Structural variants and methylation natively
- Fast, portable (nanopore)
- Higher per-base error historically (improving)
- Lower throughput per dollar than the largest short-read instruments
Latest papers
topQuery for this technology: (TITLE:"Long-read sequencing" OR ABSTRACT:"Long-read sequencing" OR TITLE:"PacBio, Oxford Nanopore" OR ABSTRACT:"PacBio, Oxford Nanopore") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about Long-read sequencing (PacBio, Oxford Nanopore), not a curated reading list.