Oxford Nanopore at ASHG 2025
Oxford Nanopore will be at Booth 619 in the exhibit hall at the American Society for Human Genetics Annual Meeting in October, 2025, hosted in Boston. We will also host CoLabs, on-booth activities, an off-site reception, and an Industry Education Session on Thursday, October 16. Details to come.
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Industry Education Session
Sequencing from large scale to single cell – the new era of biological discovery
Location: Room 153 ABC
Date: Thursday, October 16th
Time: 12:00 pm — 1:00 pm EDT
Join our Industry workshop to explore how human genetics is being transformed by the unrestricted read lengths from Oxford Nanopore sequencing technology, from understanding variant function in complex disorders to characterising hidden variants in rare disease samples. Discover how the technology captures comprehensive genomic variation, including structural variants, repeat expansions, and epigenetic modifications, and deciphers complex gene expression landscapes through characterising full-length RNA isoforms. Learn how the latest applications of Oxford Nanopore sequencing are accessing previously difficult-to-sequence genomic regions and revealing the true diversity of the transcriptome.
Agenda
12:00 pm - 1:00 pm EDT | Talk title | Speaker |
|---|---|---|
12:00 pm - 12:05 pm | Welcome and introductions | Cora Vacher, Oxford Nanopore Technologies |
12:05 pm - 12:20 pm | Uncovering Alzheimer's disease-specific isoform diversity through single-cell long-read transcriptomics | Lindsay Rizzardi, University of Alabama at Birmingham |
12:25 pm -12:40 pm | Enhanced hereditary cancer screening through scalable parent-of-origin-aware genomic analysis | Kasmintan Schrader, BC Cancer |
12:45 pm - 1:00 pm | Capturing unaltered insights with Oxford Nanopore Sequencing | Rosemary Dokos, Oxford Nanopore Technologies |
Speakers
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Welcome and introductions
Cora Vacher, Associate Director, Market Segment, Oxford Nanopore Technologies
Cora Vacher is the Market Segment Associate Director for Human Genetic at Oxford Nanopore Technologi...
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Uncovering Alzheimer's disease-specific isoform diversity through single-cell long-read transcriptomics
Lindsay Rizzardi, Assistant Professor, University of Alabama at Birmingham
Dr. Rizzardi is an Assistant Professor at the University of Alabama at Birmingham, with extensive tr...
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Capturing unaltered insights with Oxford Nanopore Sequencing
Rosemary Sinclair Dokos, Chief Product and Marketing Officer, Oxford Nanopore Technologies
Rosemary Sinclair Dokos, Chief Product and Marketing Officer, joined Oxford Nanopore in January 2014...
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Enhanced hereditary cancer screening through scalable parent-of-origin-aware genomic analysis
Kasmintan Schrader, Scientist and Staff Physician, co-Medical Director - Provincial Hereditary Cancer Program, BC Cancer
Dr. Kasmintan Schrader, a Clinician-Scientist, Medical Geneticist, received her PhD in Pathology and...
CoLabs
Oxford Nanopore will be hosting two CoLabs at the ASHG 2025 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.
Wednesday, October 15th
From maps to mechanism: Unlocking the dynamic regulatory role of RNA modifications using single-molecule, direct RNA sequencing
Location: CoLab Theater 2
Time: 2:30 pm — 3:00 pm EDT
Oxford Nanopore Technologies provides the only technology capable of sequencing native RNA and simultaneously reading a growing list of RNA modifications – including m6A, pseudouridine and inosine. Direct RNA sequencing has other advantages like measuring polyA tail length and being free of PCR bias. Join our colab to hear from Dr Leyland Taylor, NIH, on his work to unravel the dynamic regulatory role of multiple RNA modifications in Type 2 diabetes with the goal of mapping epitranscriptomic regulation back to unexplained GWAS hits. You’ll also hear from Oxford Nanopore on the latest updates to direct RNA sequencing and RNA modification calling.
Thursday, October 16th
Known unknowns: resolving complex genomic regions with targeted sequencing
Location: CoLab Theater 1
Time: 3:15 – 3:45 PM EDT
Single nucleotide variants (SNVs) and small insertions and deletions (indels) have been the mainstay of variant analysis in sequencing based human genomics studies. However, identifying and measuring genetic variability within repetitive and structurally complex regions of the genome remains a significant challenge. Segmental duplications, high sequence homology between paralogues, and repetitive regions are a few of the challenges facing all DNA sequencing technologies in terms of sequence alignment, variant calling and interpretation. Oxford Nanopore sequencing provides the means to interrogate these challenging loci and resolve numerous challenging medically relevant genes (CMRGs) through targeted sequencing. Join our Colabs for an update on compatible methods and how to select the best fit to your requirements.
On-booth activities
Wednesday, October 15 | Thursday, October 16 | Friday, October 17 |
|---|---|---|
10:15 am— Data for breakfast: Solving the most complex genetic architectures with state-of-the-art de novo assembly Sean McKenzie, Director, Applications Bioinformatics | 10:15 am— Data for breakfast: EPI2ME updates - Oxford Nanopore Technologies' comprehensive analysis platform Matt Parker, Director, Clinical Bioinformatics Software | 10:15 am— A tour of the dark genome Lynn Ly, Genomic Applications Bioinformatician |
11:45 am— Resolving complex haplotypes in pharmacogenomic genes Carly Tyer, Applications Scientist | 11:45 am— A tour of the dark genome Lynn Ly, Genomic Applications Bioinformatician | 11:45 am— Resolving complex haplotypes in pharmacogenomic genes Carly Tyer, Applications Scientist |
12:45 pm— ElysION: from sample to analysis, end-to-end nanopore sequencing on a single device Steph Wilbraham, Director, Product Management | 12:45 pm— ElysION: from sample to analysis, end-to-end nanopore sequencing on a single device Steph Wilbraham, Director, Product Management | |
2:45 pm — Multiomic data in one run: flow cell loading and sequencing setup Subhoshree Ghose, Field Applications Scientist | 2:45 pm — Multiomic data in one run: flow cell loading and sequencing setup Subhoshree Ghose, Field Applications Scientist | 2:45 pm — Multiomic data in one run: flow cell loading and sequencing setup Subhoshree Ghose, Field Applications Scientist |
3:45 pm— Title TBC Dan Fordham, Director, Strategic Product Management | 3:45 pm— ElysION: from sample to analysis, end-to-end nanopore sequencing on a single device Steph Wilbraham, Director, Product Management |
Reception
Join Oxford Nanopore team and other nanopore users at Carrie Nation Cocktail Club to chat about current applications of our technology!
Time: 8:00 pm ~ 12:00 am EDT
Date: Thursday, October 16
Venue: Carrie Nation Cocktail Club
Location: 11 Beacon St, Boston, MA 02108
Please note, this event will be first-come, first-served. You will need an ASHG badge to attend the reception. Attendees must be age 21+.
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