Applications Research areas
Human genomics
Fully characterise human genetic variation with real-time nanopore sequencing technology. Generate highly contiguous genomes or interrogate targeted regions and full-length RNA transcripts. With nanopore technology, there is no limit to read length (current record >4 Mb), enabling complete resolution of challenging regions, uncovering previously hidden variation. Plus, identify base modifications as standard, with amplification-free native DNA or RNA sequencing.
The potential of ultrarapid nanopore genome sequencing for critical care medicine
Watch the videowe present a pipeline for high-depth nanopore sequencing of a human genome in less than 2 hours... Goenka, S.D et al. Nat. Biotechnol. 40(7), 1035–1041 (2022)
Oxford Nanopore sequencing
Traditional short-read technologies
Unrestricted read length (>4 Mb achieved)
- Resolve genomic regions inaccessible to short reads, including complex structural variants (SVs) and repeats
- Assemble high-quality genomes, with fewer gaps
- Analyse long-range haplotypes and phasing
- Fully characterise transcript isoforms, splice variants, and fusions — up to single-cell resolution
Read length typically 50-300 bp
Short reads do not typically span entire regions of interest, including repeats and structural variants, or full length RNA transcripts, resulting in fragmented assemblies and ambiguous transcript isoform data.
Direct, amplification-free protocols
- Detect base modifications, such as methylation, as standard — no additional prep required
- Eliminate amplification bias and read length limitations
Amplification required
Amplification can introduce bias — reducing uniformity of coverage with the potential for coverage gaps — and removes base modifications, necessitating additional sample prep, sequencing runs, and expense.
Real-time data streaming
- Stop sequencing when sufficient data generated — wash and reuse flow cell
- Immediate access to results
- Perform target enrichment without additional wet-lab prep using adaptive sampling
Fixed run time with bulk data delivery
Increased time-to-result and inability to identify workflow errors until it’s too late, plus additional complexities of handling large volumes of bulk data.
Flexible and on demand
- Sequence what you need when you need it — no sample batching required
- Scalable devices to suit your needs — from low throughput to thousands of human genomes per year
- Get flexible throughput with modular GridION and population-scale with PromethION devices
- No sample batching required
Limited flexibility
Sample batching may be required for optimal efficiency, potentially delaying results.
White paper
Advancing human genetics research with nanopore sequencing
From closing genome gaps to characterising full-length RNA transcripts, this White paper describes how real-time, on-demand nanopore sequencing technology is being used to address the limitations of traditional short-read sequencing technologies to deliver novel biological insights. Specific case studies reveal how researchers are applying the benefits of nanopore technology to a variety of sequencing techniques, including whole genome, targeted, and RNA sequencing.
View more content on getting started with nanopore sequencing for human genomics, including guides and workflows on genome assembly, variant calling and phasing, and methylation detection.
Case study
Accessing the inaccessible human genome with long reads
The human genome contains 36,794 ‘dark’ regions that are intractable to assembly and alignment using traditional short-read sequencing technology. Discover how, Ebbert et al. applied long nanopore sequencing reads to resolve these regions.
‘Oxford Nanopore Technologies outperformed other long-read technologies, resolving 90.4% of dark CDS [coding sequence] regions’
From genome assembly to single-cell sequencing, whatever your research interests, get comprehensive information in our Investigations pages.
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Scalable sequencing for human genomics
From portable, yet powerful Flongle and MinION devices to the high-throughput benchtop GridION and PromethION platforms — scale your sequencing to match your specific research requirements.
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Recommended for human genome assembly
PromethION 2 and PromethION 2 Solo
Offering the flexibility of two independent, high-output PromethION Flow Cells, the compact PromethION 2 devices bring the benefits of high-coverage, real-time nanopore sequencing to every lab. Ideal for low-cost access to highly accurate human genomes and transcriptomes.
PromethION 48
With 48 independently addressable, high-yield flow cells and powerful, integrated compute, PromethION 48 delivers highly accurate genome assemblies at population scale.
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PromethION P24
Flexible, population-scale sequencing using up to 24 independent, high-capacity flow cells — complete genomic and transcriptomic characterisation of large sample numbers.
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GridION
From genome assembly to gene expression, run multiple experiments on-demand using 5 independent MinION flow cells.
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MinION
Access the benefits of nanopore technology from just $1,000 — suitable for targeted sequencing and gene expression studies.
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MinION Mk1C
Integrated sequencing and analysis in a powerful handheld device — suitable for targeted sequencing and gene expression studies.
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Flongle
Adapting MinION and GridION for smaller, routine tests and analyses. Low plex targeted sequencing, RNA isoform analysis, and quality control applications.
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