Top 10 highlights from 2023

1. NIH CARD publication showcases extremely high accuracy.

On 14th September, the NIH Centre for Alzheimer’s and Related Dementias (CARD) showcased a pioneering nanopore-based sequencing approach in Nature, with comprehensive, high accuracy in SNP, structural variant, and methylation calls. Notably, this method proves to be both cost-effective and scalable for extensive projects, making a significant stride in large-scale, native DNA sequencing.

The protocol is currently used to sequence thousands of human genomes as part of the NIH CARD initiative, which aims to unravel the mysteries underlying Alzheimer's disease and related dementias. Its emphasis on base modification analysis reveals high concordance in methylation calls, offering reliable, haplotype-resolved methylation data during the standard sequencing run itself, without the need for a separate process.

Leveraging the high-throughput capabilities of the PromethION 48, which can sequence over 4900 genomes annually, paired with advanced chemistry and flow cells, this breakthrough paves the way for a new era of comprehensive and accurate genomic data at an unparalleled scale. You can read more here.

2. Oxford Nanopore meets Apple’s M3 silicon chip, hailing a new era of distributed genome sequencing.

In a late October spectacle, tech juggernaut Apple unveiled their latest M3 Silicon chips, housed within the new Macbook Pro and iMac. During their “Scary Fast” event, the outside world was gifted the convergence of Apple’s latest advancements with Oxford Nanopore’s DNA and RNA sequencing technology.

With the latest chips, sequencing becomes not just powerful, but globally accessible, as anyone with the latest iMac or MacbookPro featuring these chips will be able to access the same high-definition biological data, with just one sequencing device and a Mac computer.

This pivotal moment extends beyond the impressive technological fusion and signifies a global decentralisation of knowledge – a promise that the mysteries encoded in DNA are no longer confined to specialised labs or distant research facilities. We are truly working towards enabling the analysis of anything, by anyone, anywhere.

3. Paediatric brain tumour types revealed mid-surgery with nanopore sequencing and AI.

Published in Nature on October 11th, researchers at UMC Utrecht have developed a neural network called “Sturgeon”, that has the potential to completely transform neurosurgery. This deep-learning neural network integrates Oxford Nanopore's real time sequencing technology to enable the molecular classification of central nervous system (CNS) tumours during surgery.

CNS tumours are lethal, especially among children, and they present a significant challenge for neurosurgeons that must balance maximum tumour removal with preserving neurological function.  With “Sturgeon”, surgeons gain real-time insights into tumour types within 20-40 minutes. This significantly shortens the biopsy-to-tumour determination timeline from an entire week to just 60-90 minutes.

By melding these two innovative technologies, researchers have empowered surgeons to tailor their approach and surgical techniques to the specific characteristics of the tumour during surgery. This reduces the likelihood for subsequent surgeries and dramatically improves patient outcomes. For more details, read here.

4. Shaping the future of precision medicine. Collaborations with BioMérieux and the Mayo Clinic pave the way to  clinical settings.

On the morning of our first-ever Capital Markets Day, we announced two major partnerships that demonstrate our commitment to the clinical environment. BioMérieux SA, a world leader in the field of in vitro diagnostics (IVD), solidifying our ongoing relationship to fuel the development of nanopore-based molecular sensing technology. Meanwhile, a joint development collaboration with the Mayo Clinic, USA, involves integrating nanopore sequencing into the Mayo Clinic’s laboratories to help develop new clinical tests for human diseases.

Nanopore sequencing technology can analyse DNA fragments of all lengths and provide real-time methylation data with speed and precision, which is crucial for tailoring effective treatments for cancer and genetic disorders. With these partnerships acting as a launch pad, we aim to propel nanopore technology into routine clinical use.

5. Education program and collaboration with Cold Spring Harbor DNA Learning Centre.

On 24th August 2023, Oxford Nanopore launched “Education beta”, a pilot programme designed for scientists wishing to use sequencing in high schools or undergraduate settings. The programme has been a resounding success, with all 50 initial spots being filled, and an explosion of interest and requests.

In addition, a collaboration was agreed with the Cold Spring Harbor DNA Learning Centre (DNALC) for the development of accessible educational infrastructure that has the potential to make in-classroom sequencing routine for university and pre-university educators.

We designed the MinION to be affordable and accessible so that anyone, anywhere could be empowered to understand biology. The next generation of scientists have profound challenges to solve - and biological sciences can help. With the MinION in their hands, they are encouraged to understand more about science, to ask questions of the world around them and generate answers and solutions not previously possible.” Gordon Sanghera, CEO.

6. Relentless global innovation at London Calling and Nanopore Community Meetings.

This year has been packed full of innovation, best showcased at three of the greatest scientific events in existence (we might be a little bias). London Calling, and two Nanopore Community Meetings hosted in Singapore and Houston, demonstrated how the Oxford Nanopore platform enables the world’s greatest minds to achieve what was previously believed unachievable.

From national population-genomic programmes such as The Galapagos Genetic Barcode Project, to investigating malaria drug resistance in Ghana, nanopore sequencing is facilitating innovation in all corners of the world.

Our global impact is only set to increase as we released TurBOT into beta access during NCM Houston. This all-inclusive sample-to-result benchtop solution offers automated extraction, library preparation, sequencing, basecalling, and data analysis for multiple samples from a single device. This will bring streamlined, automated nanopore sequencing into the lab, enabling fully hands-off sequencing that is reliable and reproducible.

Innovation is at the heart of Oxford Nanopore, and we are excited to continue facilitating scientific advancements at the frontier of genomics.

7. What You’re Missing Matters: the proof.

The American Society of Human Genomics (ASHG) is one of the largest and most impactful genomic events of the year. As such, there was no better place to launch our bold marketing campaign What You’re Missing Matters. With a comprehensive view of structural variants and methylation, nanopore technology powers the light in the dark, and brings into view what was previously hidden away.

For example, despite decades of advancements, the human genome assembly was incomplete until the Telomere-to-Telomere (T2T) consortium’s efforts concluded in 2022. This completion revealed that the previously impenetrable 8% harboured crucial elements linked to neurological disorders, rare conditions like fragile X syndrome, and even influenced medication metabolism.

Conventional short-read technologies often overlook critical genetic elements crucial to understanding diseases, such as complex structural variants and epigenetic markers. Nanopore sequencing can fill these gaps, offering comprehensive genome insights and accelerating diagnostic timelines. From cancer to rare diseases, what you’re missing matters.

8. Nanopore long-read sequencing for identifying complex structural variants in inherited platelet disorders.

To further solidify the truth that What You’re Missing Matters, this research paper published in the Journal of Thrombosis and Haemostasis, showcased the efficacy of nanopore-long-read sequencing in unveiling complex structural variants in inherited platelet disorders (IPDs).

The study compares traditional high throughput sequencing (HTS) and nanopore sequencing in four patients with Glanzmann thrombasthenia (GT) and Hermansky–Pudlak syndrome (HPS). Traditional HTS missed the underlying genetic causes, while nanopore sequencing uncovered complex structural variants (SVs) in the patients, such as a deletion-inversion-duplication in ITGB3 in GT and defining SV length in HPS patients. Our technology showcased its ability to precisely characterise novel defects, suggesting its value as an additional diagnostic tool for IPDs in clinical settings.

“Nanopore technology overcomes the limitations of standard short-read sequencing techniques in SV characterisation. Using nanopore, we characterised novel defects in ITGB3, HPS5, and HPS3, highlighting the utility of long-read sequencing as an additional diagnostic tool in IPDs.”

9. WHO supports the use of targeted sequencing to detect drug resistance in Tuberculosis (TB).

In late July, the World Health Organisation (WHO), announced that a rapid sequencing solution being developed by Oxford Nanopore meets the class-based performance criteria to detect drug resistance after TB diagnosis. This can guide clinical decision-making for drug-resistant TB treatment.

TB, the second-leading infectious killer globally after COVID-19, continues to claim millions of lives annually, despite being a curable, treatable disease. The lack of accessible and rapid drug-resistant testing has hindered effective disease control for decades.

The WHO’s support of Oxford Nanopore’s rapid, portable, cost-effective, end-to-end sequencing test, which identifies drug-resistant mutations in TB DNA within 5 hours, marks a critical milestone in the fight against the disease.

10. Nanopore sequencing for mRNA vaccine testing.

Researchers at the University of Queensland have developed a faster way to put mRNA vaccines through quality control testing using nanopore technology. The BASE team at UQ’s Australian Institute for Bioengineering and Nanotechnology is recognised as the biggest supplier of research-use mRNA in Australia. In September, they showcased a new protocol in Nature to expedite the quality control processes, enabling rapid detection of issues during manufacturing, which is particularly useful in pandemic scenarios.

Currently, mRNA vaccines and therapies are analysed using a range of time-consuming, complicated, costly, and outdated methods. “By using Oxford Nanopore Technologies sequencing, we can directly analyse each individual mRNA vaccine molecule as it passes through a protein nanopore, providing a real-time measurement of the mRNA sequence identity and integrity,” said Dr Helen Gunter.

Looking ahead, Dr Gunter anticipates nanopore RNA sequencing methods will not just feature but will become central to the developmental and manufacturing process of mRNA drugs, marking a fundamental shift in ensuring the quality and efficacy of these therapies.

We'd love to hear your thoughts on our list - tell us what your highlights have been and be sure to join the conversation on our social platforms. Which Oxford Nanopore moment stood out as your favourite in 2023?

Stay tuned as we eagerly anticipate even more transformative global innovation in 2024 and beyond!

1. Kolmogorov, M., Billingsley, K.J., Mastoras, M. et al. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nat Methods 20, 1483–1492 (2023).

2. Vermeulen, C., Pagès-Gallego, M., Kester, L. et al. Ultra-fast deep-learned CNS tumour classification during surgery. Nature 622, 842–849 (2023).

3. Mezzano, D., Harrison, P.,  Frelinger, A.L., et al. Expert opinion on the use of platelet secretion assay for the diagnosis of inherited platelet function disorders. Journal of Thrombosis and Haemostasis 20, 2127-2135, (2022).

4. Gunter, H.M., Idrisoglu, S., Singh, S. et al. mRNA vaccine quality analysis using RNA sequencing. Nat Commun 14, 5663 (2023).