Applications Research areas
Clinical research
Obtain comprehensive and rapid analysis of clinical research samples with real-time nanopore sequencing technology. Identify and phase genetic variants with long reads, and fully characterise novel isoforms and fusion transcripts. With scalable platforms to suit all requirements, generate new insights into health and disease, from research into cancer, immunology, neuroscience, and reproductive health, to pharmacology, the microbiome, and infectious diseases, and many other areas of biomedical research.
Targeted long-read sequencing clarifies complex genetic results and identifies missing variants
long reads could be used as a single data source that replaces most of the testing that we do today Danny Miller, University of Washington, US
Oxford Nanopore sequencing
Traditional short-read technologies
Real-time data streaming
- Achieve rapid turnaround with immediate access to results
- Enrich single targets or panels during sequencing, with no additional sample prep, using adaptive sampling
- Identify microbiome composition and resistance in real time using simple EPI2ME workflows
Fixed run time with bulk data delivery
Increased time-to-result and inability to identify workflow errors until sequencing has been completed, plus additional practical complexities of handling and storing large volumes of sequence data.
Scalable and flexible
- Scale to suit your throughput needs
- Decentralise sequencing with portable Flongle and MinION
- Access flexible throughput with modular GridION and PromethION
- Perform cost-effective targeted analyses with single-use Flongle Flow Cells – from $90 each
- Sequence as and when required, no sample batching needed
Limited flexibility
Sample batching often required for optimal efficiency, potentially leading to long turnaround times. Benchtop devices confine sequencing to centralised locations.
Unrestricted read length (>4 Mb achieved)
- Identify mutations in complex and repetitive genomic regions
- Accurately phase single nucleotide variants, structural variants, and base modifications, and identify parent-of-origin effects
- Fully characterise splice variation and fusion transcripts
- Assemble high-quality genomes with fewer gaps
Read length typically 50–300 bp
Short reads do not typically span entire structural variants, repeat expansions and repeat-rich regions, or transcripts of interest, potentially resulting in risk variants being overlooked, fragmented genome assemblies, and ambiguous isoform identification.
Direct, amplification-free protocols
- Detect and phase base modifications as standard – no additional prep required
- Eliminate amplification- and GC-bias
- Create targeted panels using CRISPR/Cas9 probe-based enrichment
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.
White paper
The promise of nanopore sequencing for clinical and cancer research
This White paper details how real-time, scalable nanopore sequencing technology is being used to deliver novel and actionable insights across the field of biomedical research, such as identifying novel disease associations, and monitoring infectious disease outbreaks and antimicrobial resistance. Case studies demonstrate how nanopore technology can be accessed by any researcher in any environment, to advance our understanding of human health and disease.
View more clinical research content, including workflows, infographics, publications, and videos, in our Resource centre.
Case study
Resolving structural variants in antithrombin deficiency with long nanopore reads
Variants in the SERPINC1 gene are associated with antithrombin deficiency (ATD), but analysis of this region is challenging as 35% of the sequence comprises interspersed repeats. Discover how Sanchis-Juan et al. used nanopore technology to resolve complex disease variants at this locus in instances where the underlying genetic association had previously been unconfirmed.
‘For the first time, we identified a germline complex rearrangement involved in ATD previously misclassified as a deletion’
From genome-wide variant detection and phasing, to gene expression analysis and targeted panels, find comprehensive information for your research interests in our Investigations pages.
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Scalable sequencing for clinical research
From portable Flongle and MinION devices to the high-throughput benchtop GridION and PromethION platforms, scale your sequencing to match your specific clinical research requirements.
Recommended for human genome analysis
PromethION 48
Combining up to 48 independently addressable, high-capacity flow cells with powerful, integrated compute, PromethION 48 delivers flexible, on-demand access to terabases of sequencing data — ideal for human genomic and transcriptomic analyses, including large cohort-based studies.
PromethION 24
Genomic and transcriptomic sequencing using up to 24 independent, high-capacity flow cells — for in-depth characterisation of large numbers of clinical research samples.
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GridION
From gene expression analysis to high-throughput targeted mutation detection, run multiple experiments on-demand using 5 independent MinION Flow Cells.
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MinION
Portable nanopore sequencing device — suitable for targeted panels, exome sequencing, and gene expression studies.
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MinION Mk1C
Integrated nanopore sequencing and analysis in a powerful handheld device — suitable for targeted analyses and gene expression studies.
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Flongle
Adapting MinION and GridION for smaller, rapid tests and analyses, on single-use flow cells; ideal for low plex targeted sequencing and library quality control.
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