Oxford Nanopore at ASHG 2025
Discover the new era of biological discovery.
See how Oxford Nanopore powers the research questions you’ve always wanted to ask by revealing a multidimensional view of biology — in one go.
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 — in one go — in addition to 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 |
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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 while simultaneously detecting a growing list of RNA modifications — including m6A, pseudouridine, and inosine — in one go..
Direct RNA sequencing offers additional advantages, such as measuring poly(A) tail length and eliminating PCR bias. Join our colab to hear from Dr. Leland Taylor on his research uncovering how multiple RNA modifications dynamically change in pancreatic β-cells and link the epitranscriptome to type 2 diabetes genetic associations; and from Dr. Miten Jain (Northeastern University) on his research into the role of RNA modifications in tRNA and ribosomal RNA.
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 — in one go — 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 |
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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— Elevate your human genomics research with Oxford Nanopore sequencing Dan Fordham, Director, Strategic Product Management | 12:45 pm— Adaptive sampling for targeted sequencing Dan Fordham, Director, Strategic 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— A scalable platform for nanopore cDNA sequencing enables population-scale long-read transcriptomics in human tissues Jackson Mingle, NIH CARD | 3:45 pm— Adaptive sampling for targeted sequencing Dan Fordham, Director, Strategic 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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