Oxford Nanopore at ACMG 2026
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Oxford Nanopore will be at the ACMG Annual Meeting in March, 2026, hosted in Baltimore. We will also host an Industry Supported Satellite Symposium on Tuesday, March 10. See additional details below.
Industry Supported Satellite Symposium
Unrestricted Disease Insights with Comprehensive Long-read Sequencing
Date: Tuesday, March 10
Time: 4:00 PM – 5:30 PM EST
Location: Hilton Baltimore Inner Harbor, Holiday rooms 1-3
Although exome and short-read whole genome sequencing are widely used clinically, diagnostic yield remains incomplete. This is well-recognised in rare disease but equally relevant to complex conditions. Learn how simultaneous detection of clinically signifi cant variants— complex structural variants, repeat expansions, copy number variants, methylation changes—can substantially improve diagnostic yield.
Learning Objectives:
Unaltered DNA sequencing strategy: including comprehensive variant calling and methylation in unresolved rare disease samples
Ultra-rapid whole genome sequencing, from sample to prioritized variants in 24h
Profile genome-wide methylation and variants in complex disease
Agenda
4:00-5:30 PM ET | Talk title | Speaker |
|---|---|---|
4:00 - 4:15 PM | Welcome and introductions | Cora Vacher, Oxford Nanopore Technologies |
4:15 - 4:40 PM | Nanopore sequencing for clinical genetics: From critical care to complex genomic signatures | Tjakko van Ham, Erasmus University Rotterdam |
4:40 -5:05 PM | Native methylation sequencing for detection and monitoring of Alzheimer’s, Parkinson’s, ALS, and other neurodegenerative conditions | Chad Pollard, Wasatch Biolabs |
5:05 - 5:30 PM | Diagnosing the undiagnosed with long read genome data | Wendy Chung, Boston Children's Hospital |
Symposium speakers
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Cora Vacher, Associate Director, Segment Marketing, 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.
Critically ill pediatric patients often have genetic disorders requiring a rapid diagnosis to guide urgent care decisions. Standard genetic testing typically takes weeks and requires multiple tests. Nanopore long-read genome sequencing (LR-GS) delivers genome-wide results within days as a one-test-fits-all solution. As one of the first centers in Europe, we implement ultrarapid LR-GS for critically ill patients. We enrolled 26 critically ill patients (median age 2 months) suspected of having a genetic disorder at the intensive care unit to perform (ultra)rapid nanopore LR-GS alongside standard genomic care. We compared diagnostic yield, turnaround time (TAT), and evaluated the impact on clinical decision making. In 11/26 cases a genetic diagnosis was made with (ultra)rapid LR-GS. From sample receipt to result, the average TAT was 5.3 days (range 2.0–10.8) for LR-GS and 18.4 days (range 6.1–29.1) for standard genomic care. DNA methylation analysis from LR-GS expedited the diagnosis in 3/26 cases. In 7/11 solved cases ultrarapid LR-GS led to immediate adjustments in patient care, e.g., medication switch or termination of treatment. Our findings underscore the clinical impact of ultrarapid LR-GS, including added value of methylation analysis, for critically ill patients and highlight existing challenges, paving the way to ultrarapid LR-GS integration into standard diagnostics.
Critically ill pediatric patients often have genetic disorders requiring a rapid diagnosis to guide urgent care decisions. Standard genetic testing typically takes weeks and requires multiple tests. Nanopore long-read genome sequencing (LR-GS) delivers genome-wide results within days as a one-test-fits-all solution. As one of the first centers in Europe, we implement ultrarapid LR-GS for critically ill patients. We enrolled 26 critically ill patients (median age 2 months) suspected of having a genetic disorder at the intensive care unit to perform (ultra)rapid nanopore LR-GS alongside standard genomic care. We compared diagnostic yield, turnaround time (TAT), and evaluated the impact on clinical decision making. In 11/26 cases a genetic diagnosis was made with (ultra)rapid LR-GS. From sample receipt to result, the average TAT was 5.3 days (range 2.0–10.8) for LR-GS and 18.4 days (range 6.1–29.1) for standard genomic care. DNA methylation analysis from LR-GS expedited the diagnosis in 3/26 cases. In 7/11 solved cases ultrarapid LR-GS led to immediate adjustments in patient care, e.g., medication switch or termination of treatment. Our findings underscore the clinical impact of ultrarapid LR-GS, including added value of methylation analysis, for critically ill patients and highlight existing challenges, paving the way to ultrarapid LR-GS integration into standard diagnostics.
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Tjakko van Ham, Head of Diagnostic Laboratory & Associate Professor, Erasmus MCAlzheimer’s disease (AD) is the most common neurodegenerative disorder, yet current diagnostics, including CSF biomarkers and PET imaging, are invasive, expensive, and unsuitable for presymptomatic or widespread screening. Consequently, they are typically used after substantial neuronal loss has already occurred, when treatment opportunities are limited. Blood-based protein biomarkers (pTau217, Aβ42/40, NfL, GFAP) have enhanced accessibility, but each reflects slower-developing pathology or injury responses, and none provides insight into which neuronal populations or brain regions are affected. The absence of real-time, cell-type-specific markers of neurodegeneration remains a major barrier to precise diagnosis, staging, treatment targeting, and understanding of biological heterogeneity.
Alzheimer’s disease (AD) is the most common neurodegenerative disorder, yet current diagnostics, including CSF biomarkers and PET imaging, are invasive, expensive, and unsuitable for presymptomatic or widespread screening. Consequently, they are typically used after substantial neuronal loss has already occurred, when treatment opportunities are limited. Blood-based protein biomarkers (pTau217, Aβ42/40, NfL, GFAP) have enhanced accessibility, but each reflects slower-developing pathology or injury responses, and none provides insight into which neuronal populations or brain regions are affected. The absence of real-time, cell-type-specific markers of neurodegeneration remains a major barrier to precise diagnosis, staging, treatment targeting, and understanding of biological heterogeneity.
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Chad Pollard, CEO, Wasatch BiolabsWe have used long read sequencing in individuals and families with rare diseases and without a diagnosis after exome sequencing to try to identify underlying genomic contributions. We will review the diagnostic yield by clinical indication and summarize the types of variants that contribute to the previously undiagnosed cases and the utility of methylation data to confirm the diagnosis.
We have used long read sequencing in individuals and families with rare diseases and without a diagnosis after exome sequencing to try to identify underlying genomic contributions. We will review the diagnostic yield by clinical indication and summarize the types of variants that contribute to the previously undiagnosed cases and the utility of methylation data to confirm the diagnosis.
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Wendy Chung, Clinical and Molecular Geneticist, Boston Children's Hospital
