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.
Oxford Nanopore sequencing
Traditional short-read technologies
Real-time data streaming
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
- Scalable, automatable workflows 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
- Use sample barcodes to run multiple samples on a single flow cell
Sample batching often required for optimal efficiency, potentially leading to long turnaround times. Benchtop devices confine sequencing to centralised locations.
Unrestricted read length (20 bp to >4 Mb)
- Resolve complex genomic regions, including structural variants (SVs) and repeats, with long reads
- 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
- Sequence short DNA fragments, such as amplicons and cell-free DNA (cfDNA)
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
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.
The promise of nanopore sequencing for clinical 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. Specific case studies cover record-breaking whole-genome sequencing for rare disease identification, complete characterisation of imprinting disorders, accurate HLA sequencing, and improving blood cancer characterisation with single-cell transcriptomics.
View more clinical research content, including workflows, infographics, publications, and videos, in our Resource centre.
Revealing hidden genetic variants in rare disease samples
Presenting his research at the Nanopore Community Meeting 2023, Danny Miller (University of Washington, USA) highlighted the future potential of nanopore sequencing to provide rapid and comprehensive clinical genetic testing for rare paediatric diseases. As part of the 1000 Genomes Project, Danny and his team are utilising long nanopore sequencing reads to identify and characterise structural variation missed by traditional short-read-based sequencing approaches.
Rapid DNA methylation-based classification of paediatric brain tumours
Building on previous research highlighting the potential of low-pass nanopore whole-genome sequencing to allow accurate intraoperative methylation-based profiling of brain tumours, researchers at Charité – Berlin University Medicine, Germany, demonstrated the ability to utilise otherwise discarded ultrasonic aspirator-resected tissue samples. This may, in the future, overcome the challenges of time-consuming tissue processing and limited sample material in paediatric neurooncology.
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.
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.
Genomic and transcriptomic sequencing using up to 24 independent, high-capacity flow cells — for in-depth characterisation of large numbers of clinical research samples.
Offering two independent PromethION Flow Cells for low-cost access to high-output sequencing — ideal for smaller sample number whole-genome and transcriptome projects.
From gene expression analysis to high-throughput targeted mutation detection, run multiple experiments on-demand using five independent MinION Flow Cells.
Portable nanopore sequencing device — suitable for targeted panels, exome sequencing, and gene expression studies.
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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