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Long-read sequencing (PacBio HiFi, Oxford Nanopore) reads single DNA molecules in stretches of thousands of bases, so rearrangements, repeat expansions, gene fusions and methylation appear in one run where short-read machines miss them. Nanopore can classify a brain tumour during surgery in under an hour; throughput per dollar still trails the largest short-read instruments.
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.
Single-molecule real-time fluorescence (PacBio) or ionic current through a protein nanopore (ONT) reads native or circular-consensus molecules without amplification.
Query 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.
Shares Whole-exome & whole-genome sequencing and the tag supporting.
Shares Diagnostics roadmap: stains → gene panels → blood tests that decide treatment and the tag supporting.
Shares Diagnostics roadmap: stains → gene panels → blood tests that decide treatment and the tag supporting.
Shares Diagnostics roadmap: stains → gene panels → blood tests that decide treatment and the tag supporting.
Shares Whole-exome & whole-genome sequencing and the tag supporting.
Shares Diagnostics roadmap: stains → gene panels → blood tests that decide treatment and the tag supporting.
Shares Whole-exome & whole-genome sequencing and the tag supporting.
Shares DNA methylation profiling, Whole-exome & whole-genome sequencing.
Open-source projects that implement or serve this technology, from OnCo's own catalogue: licence and last activity as the repository reported them on the day of the fetch. Listing is not endorsement; check the licence before reuse and the validation before clinical use.
A deep-learning somatic small-variant caller for long-read and short-read tumour-normal sequencing.
Classifies central nervous system tumours within the operation from sparse nanopore methylation data, so the surgeon can adapt the resection.