Oxford Nanopore’s London Calling conference opens; amongst a breadth of ground-breaking research, increasing attention on human and cancer genomics

Conference presentations set to highlight the utility of comprehensive genomic analysis using nanopore sequencing for novel discoveries in human genetics, cancer research, conservation, pathogen genomics and more

The annual London Calling genomics conference, hosted by Oxford Nanopore, starts today, featuring more than 80 scientific talks across a range of disciplines, with thousands of scientists expected to attend either in person or online.

Increasing numbers of researchers are applying Oxford Nanopore’s sequencing technology to human and cancer genomics to make new discoveries. These novel insights are fueling basic and translational research and will have potential utility in the future in healthcare. Until recently human and cancer genomic research had been more focused on the detection of single nucleotide polymorphisms (SNPs) and indels (inserted or deleted bases), however now nanopore sequencing is supporting the discovery of the genetic underpinnings of disease, enabling functional genomics and novel biomarker discovery. Additionally, with nanopore sequencing’s capabilities of simultaneous genomic and epigenomic analysis of native DNA, it is also now possible to accurately and simultaneously detect structural variants (SVs), copy number variants (CNVs) and methylation at haplotype-resolved level.

Research presented this week demonstrates the scientific value of characterising this richer information and is signalling an expansion in the types of analysis being performed in human genomic research, especially for cancer. Nanopore sequencing can provide the most comprehensive insight into the human genome in health and in disease states, such as cancer, to:

• Resolve variants and epigenetic modifications across the entire genome

• Target large panels or single genes, without PCR

• Detect known and novel full-length transcripts - up to single-cell resolution.

Gordon Sanghera, CEO Oxford Nanopore Technologies, commented:

“We’re excited to welcome scientific researchers to London from 100 countries this year, presenting on a huge range of topics but with a common theme of more comprehensive, faster insights. One of the most exciting emerging themes is increasing use of nanopore sequencing in cancer research; by sequencing native DNA fragments of any length, scientists are sharing how they are performing accurate characterisation of a range of variants and integrating base modification detection. We’re proud to be supporting the community in their delivery of rapid and comprehensive characterisation of cancer samples.

We have a great line up of our customers sharing their research over the next two days and we’re all excited to hear about their discoveries, and more importantly, what’s next.”

Today at London Calling

With a broad agenda of 88 talks spanning everything from epigenomics, human genomics, cancer, and transcriptomics research, there is an opportunity to hear from the following researchers:

Euan Ashley will be discussing his record-breaking work with ultra-rapid nanopore genome sequencing in a critical care setting. His team of researchers from Stanford University School of Medicine developed a workflow for nanopore sequencing that resulted in actionable characterisation of genetic disease in under 8 hours.

Following this, Vanessa Porter will outline how nanopore sequencing helps to uncover new insights about  cervical cancer development through HPV integration.   Using all the capabilities of Oxford Nanopore technology to detect new, complex structural variants, base modifications and transcriptomics, Vanessa sequenced the whole genomes of 66 cervical cancer samples from Uganda and the USA. In sub-Saharan Africa cervical cancer is the second most prevalent cancer type and the number one cause of cancer mortality, highlighting the importance of this research.

Later in the day, Rosemary Bamford’s presentation will cover how her team used Oxford Nanopore transcriptome sequencing to profile transcript diversity across human brain development and aging. She will show that genes associated with neurodevelopmental and neurodegenerative disorders are characterised by considerable RNA isoform diversity, and their data will reveal the importance of alternative splicing in the brain.

The final plenary will be delivered by Alberto Magi. This is the first study using high-coverage whole-genome nanopore sequencing to simultaneously analyse genomic and epigenomic alterations in acute myeloid leukaemia (AML). This study provides new insights into the genetic mechanisms underlying cancer evolution and drug resistance in patients with AML at diagnosis and relapse.

Elsewhere on the agenda, as well as diverse talks about genomic surveillance of pathogens, infectious disease, single cell and bioinformatics. London Calling attendees will hear from conservation researchers who will discuss how the accessible nature of nanopore technology is enabling them to support conservation efforts across the globe, from amphibians in Ecuador to the critically endangered kākāpō of New Zealand.

Oxford Nanopore CTO Clive G Brown, and colleagues, will also deliver our London Calling Technology update today at 5.45pm BST.

Further updates on London Calling will be available at our website or follow #nanoporeconf on social media. This year’s conference is, for the first time, a hybrid event and you can still register for online attendance here: https://nanoporetech.com/lc22

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