Oxford Nanopore at ASHG 2026
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Oxford Nanopore will be at the ASHG Annual Meeting at Booth 901 in October, 2026, hosted in Montreal. We will also host a Industry Education Session on Wednesday, 21 October, and 2 CoLabs on Thursday, October 22nd. See additional details below.
Industry Education Session
Your next discovery in today's run
Date: Wednesday, October 21
Time: 3:00–4:00 PM
Location: Room 512 A-G
This industry session will showcase how Oxford Nanopore Technologies is redefining what is possible in fundamental, translational, and clinical research. From highly accessible targeted sequencing with digital panels, which are powered by our unique Adaptive Sampling whole-genome sequencing method, to highly contiguous assembled genomes and multiomic insights from a single run.
Our technology combines simplicity and flexibility, with the PromethION Flow Cell underpinning our latest advances in human genomics. We will unveil our new Adaptive Sampling tools, making it easier for you to create and use digital panels. You will also see how the same platform can deliver comprehensive variant detection and direct, class leading methylation data from a single sequencing run. Plus, you will discover how near telomere-to-telomere genome assemblies are helping turn highly complete human genomes from a specialist achievement into a routine possibility.
Debarshi Mustafi (Seattle Children’s Hospital, USA) will then show how these capabilities could translate into clinical insight. Using examples from inherited retinal disease and retinoblastoma, he will illustrate how long nanopore reads can resolve difficult structural and noncoding variants, phase haplotypes, determine parental origin, and generate methylation data alongside genetic information.
Together, the presentations will show how you have the potential to move beyond isolated variant detection towards comprehensive, haplotype-resolved multiomic insights, and bring the future of precision genomics into practice today.
Agenda
3:00–4:00 PM EST | Talk title | Speaker |
|---|---|---|
3:00–3:05 PM | Welcome and introductions | Cora Vacher, Oxford Nanopore Technologies |
3:05–3:30 | From variant to haplotype: long-read sequencing across Mendelian disease and cancer | Debarshi Mustafi, University of Washington |
3:30 - 4:00 | Oxford Nanopore Technologies Update | Oxford Nanopore Technologies |
Speakers
Cora Vacher
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- Job title
- Associate Director, Segment Marketing
- Institution
- Oxford Nanopore Technologies
- Biography
Cora Vacher is the Market Segment Associate Director for Human Genetic at Oxford Nanopore Technologies. Cora is passionate about genomics, in particular how genomics can help decipher and alleviate the burden of neurological diseases from neurodevelopmental to late onset neurodegenerative disorders. She came to the UK for a postdoctoral position on the genetics of Huntington’s disease in Cambridge and subsequently moved to commercial organisations.
Debarshi Mustafi
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- Job title
- Associate Professor
- Institution
- University of Washington
- Biography
Debarshi Mustafi, M.D., Ph.D., is an associate professor at University of Washington . He earned his undergraduate degree in Chemistry from the University of Chicago and completed the NIH Medical Scientist Training Program at Case Western Reserve University, where he conducted his doctoral research with Dr. Krzysztof Palczewski. After ophthalmology residency at USC/LA County, he received a Heed Fellowship and completed vitreoretinal fellowship at the University of Washington. He is now faculty at UW, with a clinical practice at Seattle Children’s and research laboratory at the Karalis Johnson Retina Center. His work focuses on inherited retinal diseases and retinoblastoma and has been supported by the NCI, NEI, Foundation Fighting Blindness, and other organizations.
CoLabs
Oxford Nanopore will be hosting two CoLabs at the ASHG 2026 annual meeting. CoLabs are 30-minute sessions hosted in the exhibit hall to showcase offerings from our industry experts and thought leaders. View session details below and register to attend.
CoLab 1: Adaptive Sampling in action: targeted answers, genome-wide insights
Location: CoLab Theater 1
Date: Thursday, October 22
Time: 1:00 — 1:30 PM EDT
Speakers: Ellie Juarez & Miguel Reis, Oxford Nanopore Technologies
Reimagine targeted sequencing. Adaptive sampling is a real-time, software-enabled method for enriching regions of interest on sequencer. In this interactive CoLab, we’ll introduce how adaptive sampling works and demonstrate how our online design tool makes it simple to create flexible, custom digital panels tailored to your scientific questions. We’ll then explore how adaptive sampling can deliver higher coverage of selected targets while retaining access to genome-wide sequencing data—enabling targeted answers without narrowing the scope of discovery. See the workflow in action, from panel design to sequencing insights, and learn how a flexible, streamlined approach to enrichment can help you get more from every sequencing run.
Adaptive Sampling CoLab speakers
Eleonora Juarez
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- Job title
- Director, Oncology Segment Marketing
- Institution
- Oxford Nanopore Technologies
- Biography
Dr. Eleonora (Ellie) Juarez is the Director of the global oncology market segment at Oxford Nanopore Technologies. With a doctorate in molecular and medical genetics and extensive expertise in cancer genomics, she helps leads the development of innovative oncology assays. Her work focuses on enabling nanopore sequencing to address the most complex biological questions in cancer research and clinical applications. Juarez has held leadership roles at Twinstrand Biosciences, Integrated DNA Technologies and Twist Bioscience, where she significantly contributed to product and application development and corporate strategy.
Miguel Reis
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- Job title
- Senior Development Scientist
- Institution
- Oxford Nanopore Technologies
- Biography
Miguel is a Senior Development Scientist at Oxford Nanopore Technologies, working on feature development for nanopore sequencing. He leads the development of multiple sequencing features, including Adaptive Sampling and Run Until, translating real-time nanopore data into real-time sequencing actions.
CoLab 2: Unlocking difficult-to-resolve genomic regions with long reads and dedicated tools
Location: CoLab Theater 2
Date: Thursday, October 22
Time: 5:45 – 6:16 PM EDT
Speakers: Cristina Gamba & Philipp Rescheneder, Oxford Nanopore Technologies
Oxford Nanopore information-rich data is opening new possibilities for resolving challenging regions of the human genome. The long-range information can span repeat-rich and highly homologous sequence, while native methylation information is retained in the underlying data. This session will explore how dedicated analysis and visualisation tools make the most of these capabilities, supporting comprehensive characterisation of complex genes and repeat expansions. The speakers will show how Oxford Nanopore long-read data can be used to detect a broad range of variant types, resolve repeat structure and allele-specific variation, and distinguish genes from pseudogenes and paralogues. The same analysis approach can be applied across whole-genome sequencing and targeted workflows enabled by Adaptive Sampling, giving researchers flexibility to investigate the regions most relevant to their work. Join us to learn how Oxford Nanopore sequencing and dedicated tools can extend genomic analysis beyond the regions that standard approaches often struggle to characterise in research and clinical genomics.
CMRG CoLab speakers
Cristina Gamba
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- Job title
- Associate Director, Product Marketing
- Institution
- Oxford Nanopore Technologies
- Biography
Cristina Gamba is the Associate Director of Product Marketing for Software and Informatics at Oxford Nanopore Technologies. With a background in genomics and bioinformatics, she focuses on translating advanced sequencing and analysis technologies into clear, accessible solutions for the research community. Cristina began her career leading genomic sequencing projects during her PhD and postdoctoral work before moving into industry roles across bioinformatics, product management, and product marketing. At Oxford Nanopore, she drives global strategies that shape how data analysis and informatics tools support scientific discovery across end to end genomic analysis solutions.
Philipp Rescheneder
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- Job title
- Senior Director, Applications Bioinformatics
- Institution
- Oxford Nanopore Technologies
- Biography
Philipp Rescheneder is the Senior Director of Applications Bioinformatics at Oxford Nanopore Technologies. He brings over 10 years of experience in tool development and next-generation sequencing data analysis to the role. Philipp and his team identify, develop, and benchmark secondary analysis tools and workflows optimised for nanopore sequencing data. Additionally, he ensures the transfer of this knowledge to enable pilot and proof-of-concept experiments, demonstrating the applicability of nanopore sequencing to existing and novel use cases.
On-booth activities
Wednesday, October 21 | Thursday, October 22 | Friday, October 23 |
|---|---|---|
9:45 AM— Targeted sequencing reimagined: Digital Panels powered by Adaptive Sampling Manuel Buscarlet, Senior Field Applications Scientist, Oxford Nanopore Technologies | 9:45 AM— Solving the most complex genetic architectures with state-of-the-art de novo assembly Sean McKenzie, Director- Applications Bioinformatics, Oxford Nanopore Technologies | 9:45 AM— See the full picture of human variation with Oxford Nanopore Rebecca Stubbs, Senior Bioinformatician, Oxford Nanopore Technologies |
12:00 PM— Methylation benchmarking Sean McKenzie, Director- Applications Bioinformatics, Oxford Nanopore Technologies | 12:00 PM— Decode RNA biology with cDNA and direct RNA sequencing Manuel Buscarlet, Senior Field Applications Scientist, Oxford Nanopore Technologies | 12:00 PM— Targeted sequencing reimagined: Digital Panels powered by Adaptive Sampling Manuel Buscarlet, Senior Field Applications Scientist, Oxford Nanopore Technologies |
1:00 PM— See the full picture of human variation with Oxford Nanopore Rebecca Stubbs, Senior Bioinformatician, Oxford Nanopore Technologies | 4:30 PM— Sequencing of 50,000 individuals from the UK Biobank with Oxford Nanopore Guillame Holley, AMGEN deCODE Genetics | 1:00 PM— Methylation benchmarking Sean McKenzie, Director- Applications Bioinformatics, Oxford Nanopore Technologies |
Reception
Join Oxford Nanopore team and other nanopore users at Carrie Nation Cocktail Club to chat about current applications of our technology!
Time: 8:30 pm ~ 12:00 am EDT
Date: Thursday, October 22
Venue: ALIA
Location: 997 Rue Saint-Jacques, Montréal, QC H3C 1G6, Canada
Please note, this event will be first-come, first-served. You will need a government-issued ID and ASHG badge to attend the reception. Attendees must be age 21+.
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