MAIN STAGE

• An overview of strategic projects and updates to the NHS genomic medicine service
• What 2025 holds in store for advances in genomic medicine
  

• Hear about first-hand impressions and applications of the latest Illumina technology
• Find out how Constellation technology is redefining the genome

• Understanding the link between omics, the microbiome, and the impact of diet on health
• The future of personalised nutrition, and improving gut health
• The impact of translating these findings will lead to a healthier population - moving from sick care to healthcare
  

• Single-molecule screening
• DNA sequenced barcoded molecular probes
• Multiplexed detection

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• Paediatric cancers are the leading cause of death in children post infancy in the Western world. Comprehensive molecular profiling is essential to elucidate the molecular basis of treatment resistant disease and to guide clinical decision making. Access to high-quality tumour material for genomic profiling is a challenge in children where tissue biopsies are small. The analysis of cell-free DNA (cfDNA) from liquid biopsies for the detection of circulating tumour DNA (ctDNA) offers a powerful, minimally invasive alternative to tumour profiling. However, ctDNA analysis is currently limited in sensitivity, scalability, turnaround time and cost, hindering its implementation into standard clinical care. Emerging Nanopore sequencing can report on native DNA, is rapid and scalable at low cost, making this technology highly attractive in the clinical setting
• In this talk, I will introduce the UK Stratified Medicine Paediatrics study which has recruited >750 paediatric patients with solid tumours, and present our Nanopore sequencing approaches for sequencing native cfDNA from these patients
• I will then show bioinformatic approaches and tools developed in our laboratory for the analysis of Nanopore sequencing data from cfDNA
• Finally, I will present research results to illustrate how Nanopore-based multi-modal cfDNA analysis (including copy number, methylation and fragmentomics) could be utilised to improve disease management in children with cancer by facilitating early detection, accurate diagnosis, and efficient serial monitoring of disease progression

• Exhibition Floor: Wander around the vibrant exhibition floor to see the latest technologies and services on offer
• Food Options: Grab a sandwich at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options, including Indian, Jamaican and Thai food
• Live Lounge Over Lunch: 15 mins technology focussed presentations
• Poster Zone: Browse the posters and reach out to potential new collaborators
• Talkaoke: The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like
• Patient Perspectives: Talks and discussions on the crucial role of patients and patient families in the understanding and development of treatments for rare diseases

• Long-read sequencing (LRS) technologies like Oxford Nanopore and Pacific Biosciences have become viable alternatives to short-read methods for transcriptomics, offering improved accuracy and throughput.
• The SQANTI suite, developed for LRS data, includes tools for quality control, benchmarking, data visualization, and transcript annotation. Key components are SQANTI-SIM (for simulating data), BUGSI (internal standards for troubleshooting), and SQANTI3 (evaluates transcript reconstruction algorithms).
• Specialized modules such as Filter, Rescue, and Requant improve transcript quantification, addressing biases unique to long-read RNA-seq, while IsoAnnot identifies functional transcripts and assesses the biological impact of splicing.
• The methodologies support large experiments by addressing experimental design, correcting biases, and enabling joint transcriptome analysis for multi-sample studies 
  

• What are HiFi reads?

HiFi reads combine long-read lengths with exceptional accuracy, offering highly reliable data with exceptional precision. While not a new technology, they are essential for applications requiring comprehensive coverage and minimal errors. This session will explore how HiFi reads enable researchers to generate extraordinarily high data quality, driving advancements in genomic analysis.

• What impact can HiFi have?

HiFi sequencing has revolutionized genomics and continues to push the boundaries of biological discovery. Explore its transformative applications in population studies, pathogen sequencing, and rare disease research, and discover how you can leverage this cutting-edge technology to make a meaningful impact in your work.

• More accessible than ever

What was once a 2-tonne machine is now available in a compact, benchtop format. Discover its capabilities and see how seamlessly it can be integrated into your laboratory workflow.

• Valuable data, simplified

Unlock the power of high-quality sequencing at an accessible cost. For less than £500, achieve a 20X genome with complete coverage of all variants, providing the insights you need without exceeding your budget. Experience precision and affordability in a single, streamlined solution.

• Harnessing the new PacBio PureTarget Long-read Sequencing technology, coupled with Optical Genome Mapping to study tandem repeat diseases
• How to utilise these technologies to explore tissue-specific dynamics of TCF4 triplet repeat instability
• Future studies and directions

• Speed Networking: Fun and useful sessions where you’ll rapidly meet other Festival attendees to immediately expand your network
• Food Options: Grab a sandwich at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options including Indian, Jamaican and Thai food
• Exhibition Floor: Wander around the vibrant exhibition floor to see the latest technologies and services on offer
• Talkaoke: The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like

• Moving WGS from promise to patient benefit, this talk will cover the utility of WGS in diagnostics, ctDNA analysis and patient monitoring
• It will outline where patients may benefit most, such as where the primary tumour is unknown
• How we are enriching the clinical WGS data from cancer patients with clinical metadata to create a usable research database is enabling discoveries and supporting precision oncology endeavours
• How we are extending the database using RNA-seq, and other molecular data and the impact on future studies moving forward
  

• How Ultima’s new sequencing architecture can address tradeoffs between the breadth, depth, and sampling frequency
• How Ultima’s transformative economics is changing the landscape of large-scale sequencing
• Examples of sequencing at scale in various markets, including clinical testing, single cell and population sequencing

• Whole genome vs. targeted approaches in ctDNA sequencing
• Machine learning frameworks to differentiate cancer signal from sequencing noise
• Emerging methods to decrease sequencing error in whole genome sequencing for low abundance variant detection