The portable MinION is being used to understand the role of genomic information in human health.

Your own portable, long read, real time DNA sequencer allows you to take control of your research.

And now, the high-throughput, high sample-number, on-demand PromethION is being released into early access.

Are you interested in?

• Whole genome sequencing for identifying novel disease-specific mutations, whole genome assembly and metagenomics
• Targeted sequencing for focusing on sub regions of the genome or specific gene panels
• RNA sequencing: full-length cDNA transcripts for strand-specific transcriptomics, splice variant and fusion protein analysis, and coming soon: direct RNA analysis

Nanopore sequencing processes the fragment length presented to it, enabling ultra-long reads. The highest recorded so far is >500Kb.

Ultra-long reads span difficult and repetitive regions allowing researchers to investigate structural variations whether looking at repeats and inversions, CNVs, indels, haplotypes or translocations, as well as SNPs. Whether working with genomic DNA, amplicons or cDNA, nanopore sequencing data starts streaming immediately and this allows the user to take control of the experiment; stop the experiment as soon as enough data is available to answer the question.

Unlike other sequencing technologies, the user can carry out the experiment on demand without increasing the per sample cost. The experiment can be completed with just one sample, with multiple samples loaded sequentially or with barcoded batches of sample, the user decides.

At only $1,000 for a starter pack and fully portable, only the MinION puts you back in control of your research.

Publications on genetic variation

TP53 gene mutation analysis in chronic lymphocytic leukemia

Nanopore sequencing detects structural variants

Self-monitoring of CML gene fusion

Nanopore sequencing is established as a powerful tool for the analysis of genomic variants.

How can nanopore sequencing support your cancer research?

• Targeted re-sequencing for in-depth analysis of inherited or somatic variations, using hybridisation capture or amplicons for the analysis of
• RNA sequencing for analysis of splice variants and fusion transcripts
• Whole genome sequencing using long read technology aids the comparison of tumour and normal genomes

Sequencing accelerates the analysis of cancer associated alterations in genome sequence such as insertions and deletions, CNVs, inversions, duplications, translocations and gene fusions, as well as single nucleotide variants.

At only $1,000 for a starter pack and fully portable, only the MinION puts you back in control of your research.

Publications and videos on nanopore sequencing in cancer research

Rapid CNV Characterisation of clinical cancer samples on the Oxford Nanopore MinION

Nanopore sequencing detects structural variants

Water testing with nanopore sequencing

Water safety is crucial for the health of the world’s populations, with waterborne disease ranking as one of the most prominent causes of death worldwide. From outbreak surveillance and containment to more routine E. coli and Coliform testing in domestic water supplies, rapid identification of pathogens from metagenomic samples could ensure maintenance of water safety globally.

Nanopore technology can provide:

• Identification and characterisation of bacteria in real time – results can be seen minutes after starting to use a device
• Rapid profiling of antimicrobial resistance
• Portable analyses – the MinION weighs less than 100g and is powered by USB, making it easily deployable across multiple sites and in the field
• Identification and differentiation of multiple species and strains within a single metagenomic sample
• Simple, quick, end-to-end workflows

Food Safety & Efficiency with nanopore sequencing

The World Health Organisation has estimated that almost 1 in 10 people (600 million total globally) fall ill every year from eating contaminated food (WHO, December 2015). In the US alone it is estimated that 128,000 people are hospitalised and 3,000 die from foodborne diseases each year (http://www.cdc.gov/foodborneburden/2011-foodborne-estimates.html). Food recalls can be devastating to industry, costing the US Food Industry $55 million each year, before taking into account loss of faith in food brands or reduced company valuations. (http://fortune.com/food-contamination/).

Food can be contaminated by pathogens – microorganisms that cause illness, including Salmonella, Norovirus (Norwalk Virus), Campylobacter, E. coli, Listeria or Clostridium perfringens.

Or, food can also be spoiled by organisms that may not cause illness, but make food inedible and unsellable.

DNA analysis of foodstuffs can be used to identify the presence of microorganisms and also the specific strain, giving rich information about where the source of infection could be. DNA based analysis can also provide other information about food, for example species present in the foodstuff to provide ingredient authentication.

An ideal system of food supply chain surveillance using DNA would test frequently, at multiple points in the supply chain, and share data centrally in real time. This has the potential to maintain standards across production, transport and holding, and to prevent a contamination outbreak from spreading further into the supply chain.

Consumers can be protected, and industries maintained, by such a system.

Nanopore technology can provide:

• Identification and characterisation of bacteria in real time – results can be seen minutes after starting the experiment
• Rapid profiling of antimicrobial resistance
• Portable analyses – the MinION weighs less than 100g and is powered by USB, making it easily deployable across multiple sites and in the field
• Simple, quick, end-to-end workflows – short library preparations, analysis from Oxford Nanopore Technologies and the Nanopore Community
• Automated analyses, identifying species in an original sample in real time

Supply chain monitoring and authenticity with nanopore sequencing

Supply chains are only as secure as their weakest link, meaning effective, transferable testing is needed to ensure procurement of the right product as well as maintenance of safety and quality standards across the process. Where a supply chain includes biological material, such as water, food or plants/wood, DNA analysis can provide rich information about the identity of the species in that sample or any infectious agents that might be present.

Sampling products for species identification, the presence of infectious agents and authenticity verification can help to safeguard both businesses and consumers and can minimise illicit trade.

For example:

• By performing DNA analysis at every point in a water network, infectious agents could be identified early and the source of infection found
• DNA analysis in the field could confirm the identity of expensive ingredients in the restaurant or related trades
• DNA analysis of samples in an industrial network of timber or other biological stocks could be verified at key transition points

Nanopore technology can provide:

• Identification and characterisation of multiple species within a single mixed sample
• Identification and characterisation of bacteria in real time
• Results can be seen minutes after starting the experiment
• Portable analyses – the MinION weighs less than 100g and is powered by USB, making it easily deployable across multiple sites and in the field.

Biodefence/Outbreak Surveillance with nanopore sequencing

Monitoring the spread of infectious disease enables effective quarantine and containment in a human or veterinary setting, preventing zoonosis, endemics and controlling antimicrobial resistance development. Sequencing of metagenomics (mixed/complex) samples could provide an agnostic method of outbreak surveillance, removing the need for specific tests for defined and well-characterised pathogens. Data generated from DNA sequence-based practices could then be used to investigate host-pathogen interactions, inform processes for vaccine and drug development and establish public health importance of particular infectious agents. This in turn gives insight into regulatory effectiveness and identifies areas of future preventability.

Nanopore technology has already been used in the surveillance of Ebola, Zika and other pathogens.

Nanopore technology can provide:

• Identification and characterisation of pathogens in real time – results can be seen minutes after starting the experiment
• Identification and differentiation of multiple species and strains within a single metagenomic sample
• Rapid profiling of antimicrobial resistance
• Portable analyses – the MinION weighs less than 100g and is powered by USB, making it easily deployable across multiple sites and in the field.

Forensics with nanopore sequencing

Since 1988, when DNA profiling was invented by Alex Jeffreys, advances in DNA information technologies have enabled the detection, resolution and prosecution of crime.

Rapid identification of individuals from mixed ‘metagenomic’ samples has the potential to make significant impact on the outcome of many aspects of policing – tracking missing people, identifying disaster victims, rapid ID of victims/criminals and re-examining cold cases amongst many other situations.

Supply chain monitoring and authenticity tests could also be used in the fight against illegal trade activity, whether in the trade for protected wildlife, plant species, or illegal timber. These methods can be applied in the field or at borders.

Nanopore technology can provide:

• Rapid DNA results, fully portable into the field or remote locations
• Species or human identification
• Differentiation of multiple sequences within a single mixed metagenomic sample
• Low input protocols –currently 20ng and expected to reduce
• Targeted sequencing of forensically relevant STRs
• Portability– the MinION weighs less than 100g and is powered by USB, making it easily deployable across multiple sites and in the field.

Agriculture: Animal

Knowledge of DNA sequence information has many potential applications in agriculture, from trait screening and selection of particular animals to veterinary diagnostics of infectious disease.

With a world food crisis emerging, animal genomics has already provided great insight into livestock breeding, to provide animal protein to large populations at relatively low cost.

Characterising individuals could also be used to determine parentage and pedigree of stud animals, as well as increasing traceability of stock post-sale.

Nanopore technology can provide:

• Portable DNA analyses – the MinION weighs less than 100g and is powered by USB, making it easily deployable across multiple sites and in the field
• High-throughput DNA analyses – the PromethION is designed to deliver nearly 300 times the sequencing power of a MinION and is modular in design for high sample-number, high-throughput analyses
• If considering veterinary infectious disease: Identification and characterisation of bacteria or other microorganisms in real time – results can be seen minutes after starting the experiment

Agriculture: Plant

Leading challenges in arable agriculture include maximising yield, resisting pests and avoiding disease – all of which benefit from the information provided by DNA sequencing. This includes trait screening and selection in wildtype, cultivated and biotech crops to infectious disease diagnostics.

Nanopore technology can provide:

• Portable DNA analyses – the MinION weighs less than 100g and is powered by USB, making it easily deployable across multiple sites and in the field
• High-throughput DNA analyses – the PromethION is designed to deliver nearly 300 times the sequencing power of a MinION and is modular in design for high sample-number, high-throughput analyses
• If considering plant pathogens: Identification and characterisation of bacteria or other microorganisms in real time – results can be seen minutes after starting the experiment

Industrial diagnostics with nanopore sensing

Many industries can benefit from real time biological analysis or surveillance, whether to improve their own infrastructure or to provide a service. For example:

• The success of oil and gas projects relies on an understanding of microbiology – preventing microbiologically influenced corrosion, reservoir souring, development of problematic biofilms and compromising of the integrity of industrial infrastructure.
• Industrial or domestic pest control could be made more efficient by using rapid, field based species ID technology based on DNA. This might be applied to pest control services in the manufacturing of food or any clean environment.
• The same applies to safety testing in the food and water industries.

Nanopore technology can provide:

• Identification and quantification of species in a mixed (metagenomics) sample in real time – results can be seen minutes after starting the experiment. This can be done using a variety of techniques including 16s/DNA barcoding
• Portable analyses – the MinION weighs less than 100g and is powered by USB, making it easily deployable across multiple sites and in the field.

Pharmaceuticals / Biotech

DNA sequencing is an essential tool in modern pharmaceutical and biotech industries, providing valuable insight into the biology of diseases, discovery and stratification of their therapeutic options and playing a key role in biologics production.

Where research uncovers possible mechanisms for disease, those working in drug discovery can use these data to develop novel diagnostic or monitoring tools, to develop therapies that address the biological pathways concerned, or to develop companion diagnostics to ensure that new – or existing – therapies are targeted at the correct subgroup of patients.

Whole genome and targeted approaches can be used, as well as RNA investigations to characterise expression. Real-time, scalable nucleic acid analyses using nanopore technology could enable effective pharmacogenetic studies and clinical trials, as well as providing a consistent, universal platform with point of care potential for companion diagnostics.

In the sensitive environment of biologics production, nanopore technology offers the potential for real time monitoring of a production line.

Nanopore technology can provide:

• Real time nucleic acid analysis, whether small and portable or large and high throughput and on-demand
• The potential to have a consistent analysis platform in a central lab and highly portable in the field, in the physician’s office or even at home.

Nanopore sensing in Oncology

Cancer medicine is increasingly using DNA and RNA analysis technologies to improve diagnosis and treatment of disease. There is substantial clinical impact of performing genetic profiling of tumour samples in order to identify specific mutations and match those mutations with targeted therapies; one of the earliest forms of ‘personalised’ or ‘precision’ medicine.

Nanopore technology can provide:

• Nucleic acid analysis, in real time and at scale whether portable, or larger high-throughput.
• Long read lengths capable of spanning highly repetitive regions and spanning breakpoints.
• Sensitivity – Norris et al demonstrate the detection of structural variants in 1:100 wildtype dilutions.
• High throughput with the potential to achieve the high coverage needed for testing for circulating tumour DNA for monitoring the response to treatment or disease relapse.
• Detection of modified bases for methylation profiling and characterisation of CpG islands.
• Rapid identification of gene variants.
• The potential to have a consistent analysis platform in a central lab and highly portable in the field, in the physician’s office or even at home.

Reproductive Health

Increased access to DNA sequence information can help to inform the processes required for maintenance of reproductive health, including prenatal testing and preimplantation screening & diagnosis.

The risks associated with prenatal testing techniques, such as amniocentesis and chorionic villus sampling, are well documented; however the non-invasive methods that can be achieved with next generation sequencing platforms (non-invasive prenatal testing, NIPT) remove the need to expose patients to unnecessary risks. NIPT is now becoming routinely available in many countries.

Nanopore technology provides an alternative DNA sequencing technology that not only provides options for centralised, high-throughput analysis but also can provide fully portable DNA analysis solutions, that have the potential to be developed for point of care use.

Nanopore technology can provide:

• Nucleic acid analysis, in real time and at scale whether portable, or larger high-throughput with rapid turnaround time from sample to answer.
• Sensitivity – ability to test circulating fetal DNA in a blood sample, 1% against a background of 99% maternal DNA reference Aneuploidy detection reference
• Portable analyses – the MinION weighs less than 100g and is powered by USB.
• For high throughput, on demand DNA sequencing the PromethION is designed to offer nearly 300 times the sequencing power of MinION

Nanopore Sensing in Education

At Oxford Nanopore our goal is to enable the analysis of any living thing, by any person, in any environment. We believe that portable, accessible, easy to use DNA analysis tools will open up the ability of more people to analyse the science of the world around them.

In the future, any science student should be able to use DNA sequencing technology as a tool to learn about biology and to participate in serious science projects that have their own impact on the research community. This will be equally true whether they are an undergraduate, in primary education, or even a citizen scientist.

We have designed and sell the world’s only portable DNA sequencing device, and priced it at $1,000 for a starter pack so that it is accessible to a broad range of scientists. Our pipeline includes the ultra-portable SmidgION mobile phone sequencer and devices to enable rapid and simple sample preparation.

Our DNA sequencing technology has been explored by members of the nanopore community in a range of educational scenarios including:

• 14 year olds using the MinION to identify the ingredients of a smoothie - here
• Undergraduates using a ‘what’s in my lunch’ project to develop their bioinformatics skills - here

At this time, Oxford Nanopore supports a small number of educational projects so that we can understand how educators will use the technology, the packages that will be most useful and the forms of support that may be required. We look forward to expanding our relationships with the education community in 2017.

Nanopore Sensing for Clinical Genetics

Complex diseases, such as neurological and autoimmune conditions, require large quantities of sequence data to begin to fully understand the intricacies of their causes and progression. Examination of copy number variants, alternative splicing, epigenetics and genetic variants are needed to characterise the interactions between heritable and non-heritable mutations for an insight into the full genomic complexity of these little-understood disorders.

Nanopore technology can provide:

• High-throughput DNA analyses – the PromethION is designed to deliver nearly 300 times the sequencing power of a MinION and is modular in design for high sample-number, high-throughput analyses
• Simple, quick, end-to-end workflows
• Real-time nucleic acid analyses - results can be seen minutes after starting the experiment