Oxford Nanopore at ASHG 2025
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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.
Enhanced hereditary cancer screening through scalable parent-of-origin-aware genomic analysis
Kasmintan Schrader, BC Cancer
Capturing unaltered insights with Oxford Nanopore Sequencing
Rosemary Dokos, Oxford Nanopore Technologies
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 |
Industry Session speakers
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Cora Vacher, Associate Director, Market Segment, Oxford Nanopore TechnologiesCora 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 genetic of Huntington’s disease in Cambridge and subsequently moved to commercial organisations.
The human brain transcriptome is highly complex and is characterized by diverse transcript isoforms produced through alternative splicing in specific cell types. However, in Alzheimer's disease (AD), these splicing programs are significantly disrupted, often due to AD-associated genetic variants at or near splice sites, leading to altered isoform diversity. These changes can impair cellular functions and contribute to neurodegeneration. Despite the acknowledged importance of exploring isoform diversity, accurate assembly and quantification of full-length transcripts with short-read sequencing is challenging, while bulk RNA sequencing masks cell type-specific isoform usage. To address these limitations, we combined single cell multiomics (ATAC+Gene Expression) with single-molecule nanopore sequencing to provide transcript-level quantification at the single cell level. This approach allows identification of AD-specific transcript isoforms that would otherwise be undetectable at the gene level. Further, we integrate isoform quantification and multiomics data to validate novel transcription start sites (via scATAC-seq) and provide additional support for novel splice junctions (scRNA-seq) identified. To determine if AD-specific isoforms are also detectable in cell culture models, we validate our findings using two induced pluripotent stem cell (iPSC) models of familial (APP E693G “Arctic” variant), and sporadic (APOE ε4/ε4) AD differentiated into excitatory neurons. This work provides a detailed map of cell type-specific isoform expression associated with AD and validation of AD cell models to test the function of disease-associated transcripts. Together, these data will allow us to unravel the critical role of alternative splicing in AD.
The human brain transcriptome is highly complex and is characterized by diverse transcript isoforms produced through alternative splicing in specific cell types. However, in Alzheimer's disease (AD), these splicing programs are significantly disrupted, often due to AD-associated genetic variants at or near splice sites, leading to altered isoform diversity. These changes can impair cellular functions and contribute to neurodegeneration. Despite the acknowledged importance of exploring isoform diversity, accurate assembly and quantification of full-length transcripts with short-read sequencing is challenging, while bulk RNA sequencing masks cell type-specific isoform usage. To address these limitations, we combined single cell multiomics (ATAC+Gene Expression) with single-molecule nanopore sequencing to provide transcript-level quantification at the single cell level. This approach allows identification of AD-specific transcript isoforms that would otherwise be undetectable at the gene level. Further, we integrate isoform quantification and multiomics data to validate novel transcription start sites (via scATAC-seq) and provide additional support for novel splice junctions (scRNA-seq) identified. To determine if AD-specific isoforms are also detectable in cell culture models, we validate our findings using two induced pluripotent stem cell (iPSC) models of familial (APP E693G “Arctic” variant), and sporadic (APOE ε4/ε4) AD differentiated into excitatory neurons. This work provides a detailed map of cell type-specific isoform expression associated with AD and validation of AD cell models to test the function of disease-associated transcripts. Together, these data will allow us to unravel the critical role of alternative splicing in AD.
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Lindsay Rizzardi, Assistant Professor, University of Alabama at BirminghamIn the pursuit of deeper, more meaningful biological understanding, Oxford Nanopore Technologies continues to redefine what is possible in genomics.
Join us to discover how Oxford Nanopore empowers researchers with multiomic capabilities including native methylation detection, structural variant analysis, haplotyping and direct RNA sequencing, all on a single scalable platform. As we continue to innovate, learn how we are making high quality genomic data more accessible and impactful, helping researchers push the boundaries of discovery across science and medicine.
In the pursuit of deeper, more meaningful biological understanding, Oxford Nanopore Technologies continues to redefine what is possible in genomics.
Join us to discover how Oxford Nanopore empowers researchers with multiomic capabilities including native methylation detection, structural variant analysis, haplotyping and direct RNA sequencing, all on a single scalable platform. As we continue to innovate, learn how we are making high quality genomic data more accessible and impactful, helping researchers push the boundaries of discovery across science and medicine.
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Rosemary Sinclair Dokos, Chief Product and Marketing Officer, Oxford Nanopore TechnologiesUntil recently, determining the parent-of-origin (PofO) of autosomal variants without parental samples or external data has posed a major challenge in both research and clinical genetics. We developed Parent-of-Origin-Aware genomic analysis (POAga), a technique that enables PofO assignment using only a single sample, by integrating chromosome-scale haplotyping with DNA methylation profiling at imprinted loci (Akbari et al., Cell Genomics, 2023). This enables us to assign variants to each biological parent with 98% accuracy using only a blood sample from the child predicting which side of the family an autosomal variant comes from. We applied POAga on over 100 samples to validate predictions of carriers of pathogenic variants.
Until recently, determining the parent-of-origin (PofO) of autosomal variants without parental samples or external data has posed a major challenge in both research and clinical genetics. We developed Parent-of-Origin-Aware genomic analysis (POAga), a technique that enables PofO assignment using only a single sample, by integrating chromosome-scale haplotyping with DNA methylation profiling at imprinted loci (Akbari et al., Cell Genomics, 2023). This enables us to assign variants to each biological parent with 98% accuracy using only a blood sample from the child predicting which side of the family an autosomal variant comes from. We applied POAga on over 100 samples to validate predictions of carriers of pathogenic variants.
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Kasmintan Schrader, Scientist and Staff Physician, co-Medical Director - Provincial Hereditary Cancer Program, BC Cancer
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.
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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Event full
Registration has now closed for this event.
