{"entity":{"id":"long-read-sequencing","kind":"technology","name":"Long-read sequencing (PacBio, Oxford Nanopore)","aka":[],"tldr":"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.","summary":"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.","status":"established","asOf":"2026-09-08","links":[{"label":"Logsdon et al., Long-read human genome sequencing and its applications (Nature Reviews Genetics 2020)","url":"https://doi.org/10.1038/s41576-020-0236-x"}],"tags":["supporting"],"related":[],"cancers":[],"sections":["diagnostics","drug-discovery"],"technologies":["wes-wgs","methylation-profiling"],"targets":[],"drugs":[],"companies":["pacbio","oxford-nanopore"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-logsdon-nat-rev-genet"],"journals":[],"dependsOn":[],"notes":[],"principle":"Single-molecule real-time fluorescence (PacBio) or ionic current through a protein nanopore (ONT) reads native or circular-consensus molecules without amplification.","strengths":["Structural variants and methylation natively","Fast, portable (nanopore)"],"limitations":["Higher per-base error historically (improving)","Lower throughput per dollar than the largest short-read instruments"]},"route":"/technologies/long-read-sequencing/","neighbours":{"section":[{"id":"diagnostics","kind":"section","name":"Diagnostics & Biomarkers","route":"/fronts/diagnostics/"},{"id":"drug-discovery","kind":"section","name":"Drug Discovery Platforms","route":"/fronts/drug-discovery/"}],"technology":[{"id":"methylation-profiling","kind":"technology","name":"DNA methylation profiling","route":"/technologies/methylation-profiling/"},{"id":"wes-wgs","kind":"technology","name":"Whole-exome & whole-genome sequencing","route":"/technologies/wes-wgs/"}],"company":[{"id":"oxford-nanopore","kind":"company","name":"Oxford Nanopore Technologies","route":"/companies/oxford-nanopore/"},{"id":"pacbio","kind":"company","name":"PacBio","route":"/companies/pacbio/"}],"paper":[{"id":"paper-logsdon-nat-rev-genet","kind":"paper","name":"Long-read human genome sequencing and its applications","route":"/key-papers/paper-logsdon-nat-rev-genet/"}],"roadmap":[{"id":"diagnostics-roadmap","kind":"roadmap","name":"Diagnostics roadmap: stains → gene panels → blood tests that decide treatment","route":"/roadmaps/diagnostics-roadmap/"}]}}