Clinical research
we know that if we use other technologies, like short-read sequencing, we miss a lot of things
Danny Miller, University of Washington, USA
Get results faster, with local, on-demand sequencing — no more sample batching
Replace multiple techniques with a single comprehensive assay
Simplify your research using best-practice, end-to-end workflows and integrated tertiary analysis
Discover hidden variation in your samples
Nanopore sequencing delivers the most comprehensive insights into your clinical research samples available on a single technology. It enables real-time analysis of native DNA or RNA reads of any length (20 bp to >4 Mb), and combined with best-practice end-to-end workflows, facilitates complete characterisation of single-nucleotide variants (SNVs), structural variants (SVs), repeats, phasing, transcript isoforms, and epigenetic modifications. Scalable, compact, and affordable nanopore sequencing devices now enable all labs and researchers to unlock deeper insights for the identification and characterisation of disease-causing genetic variants.
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Featured content
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New approaches for clinical research
Discover how real-time, scalable nanopore sequencing technology is being used to deliver novel, actionable insights across the clinical research field. Read case studies on rare disease identification, complete characterisation of imprinting disorders, accurate HLA sequencing, single-cell sequencing, and more.
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Comprehensive human genomic variant and methylation analysis
From sample to answer, discover how nanopore sequencing delivers comprehensive variant detection across the human genome in this best practice, end-to-end workflow. Get accurate SNV, SV, STR, and methylation results in a single streamlined assay, with integrated tertiary analysis.
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PromethION 24
Combining up to 24 independently addressable, high-capacity flow cells with powerful, integrated compute, PromethION 24 delivers flexible, on-demand access to terabases of ultra-rich sequencing data — ideal for comprehensive variant identification across large numbers of clinical research samples.
EPI2ME wf-human-variation
The EPI2ME wf-human-variation workflow provides all-in-one calling and phasing of SNVs, SVs, copy number variants (CNVs), short tandem repeats (STR) expansions, and methylation — covering both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) modifications.
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Flexible, affordable, high-output nanopore devices for every lab — in a compact, accessible form.
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Compact benchtop device designed to run and analyse up to five MinION Flow Cells.
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The only portable, real-time devices for DNA and RNA sequencing, giving complete control and creativity over when, where, and how often you sequence, regardless of application.
Technology comparison
Oxford Nanopore sequencing
Legacy short-read sequencing
Any read length (50 bp to >4 Mb)
Short read length (<300 bp)
- Generate complete, high-quality genomes with fewer contigs and simplify de novo assembly
- Resolve genomic regions inaccessible to short reads, including complex structural variants (SVs) and repeats
- Analyse long-range haplotypes, accurately phase single nucleotide variants (SNVs) and base modifications, and identify parent-of-origin effects
- Sequence short DNA fragments, such as amplicons and cell-free DNA (cfDNA)
- Sequence and quantify full-length transcripts to annotate genomes, fully characterise isoforms, and analyse gene expression — including at single-cell resolution
- Resolve mobile genetic elements — including plasmids and transposons — to generate critical genomic insights
- Assembly contiguity is reduced and complex computational analyses are required to infer results
- Complex genomic regions such as SVs and repeat elements typically cannot be sequenced in single reads (e.g. transposons, gene duplications, and prophage sequences)
- Transcript analysis is limited to gene-level expression data
- Important genetic information is missed
Direct sequencing of native DNA/RNA
Amplification required
- Eliminate amplification- and GC-bias, along with read length limitations, and access genomic regions that are difficult to amplify
- Detect epigenetic modifications, such as methylation, as standard — no additional, time-consuming sample prep required
- Create cost-effective, amplification-free, targeted panels with adaptive sampling to detect SVs, repeats, SNVs, and methylation in a single assay
- Amplification is often required and can introduce bias
- Base modifications are removed, necessitating additional sample prep, sequencing runs, and expense
- Uniformity of coverage is reduced, resulting in assembly gaps
Real-time data streaming
Fixed run time with bulk data delivery
- Analyse data as it is generated for immediate access to actionable results
- Stop sequencing when sufficient data is obtained — wash and reuse flow cell
- Combine real-time data streaming with intuitive, real-time EPI2ME data analysis workflows for deeper insights
- Time to result is increased
- Workflow errors cannot be identified until it is too late
- Additional complexities of handling large volumes of bulk data
Accessible and affordable sequencing
Constrained to centralised labs
- Sequence on demand with flexible end-to-end workflows that suit your throughput needs
- Sequence at sample source, even in the most extreme or remote environments, with the portable MinION device — minimise potential sample degradation caused by storage and shipping
- Scale up with modular GridION and PromethION devices — suitable for high-output, high-throughput sequencing to generate ultra-rich data
- Sequence as and when needed using low-cost, independently addressable flow cells — no sample batching needed
- Use sample barcodes to multiplex samples on a single flow cell
- Bulky, expensive devices that require substantial site infrastructure — use is restricted to well-resourced, centralised locations, limiting global accessibility
- High sample batching is required for optimal efficiency, delaying time to results
Streamlined, automatable workflows
Laborious workflows
- Prepare samples in as little as 10 minutes, including multiplexing
- Use end-to-end whole-genome, metagenomic, targeted (including 16S barcoding), direct RNA and cDNA sequencing workflows
- Scale and automate your workflows to suit your sequencing needs
- Perform real-time enrichment of single targets or panels without additional wet-lab prep by using adaptive sampling
- Lengthy sample prep is required
- Long sequencing run times
- Workflow efficiency is reduced, and time to result is increased
