AMP 2025
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Oxford Nanopore at AMP 2025
The Association for Molecular Pathology (AMP) Annual Meeting & Expo features more than 200 exhibiting companies, 60 educational sessions, nearly 400 poster presentations, and 3,000+ attendees/exhibitors.
Oxford Nanopore will be located at Booth 1014, and will host 2 Corporate Workshops on Wednesday, November 12 at 12:00 pm and 2:00 pm EST. Exhibits will be open from November 13 to November 15.
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Oncology Workshop
Oxford Nanopore Technologies: Revolutionizing oncology with comprehensive multiomic sequencing solutions
Join Oxford Nanopore Technologies to explore how real-time, direct DNA sequencing is transforming oncology research and clinical applications. The session will feature two pioneering applications of nanopore technology in oncology. Dr. Francisco Marchi will present the Acute Leukemia Methylome Atlas, built from over 3,000 leukemia samples, demonstrating how long read nanopore sequencing and machine learning can predict AML subtypes and patient outcomes with remarkable accuracy. Dr. Areeba Patel will discuss rapid, comprehensive molecular profiling of CNS tumors using methylation-based nanopore sequencing, showcasing its potential for clinical implementation. Together, these talks highlight how nanopore sequencing is redefining precision oncology with speed, flexibility, and multiomic depth.
Date: Wednesday, November 12, 2025
Time: 12:00 pm-12:50 pm EST
Location: Room 155, Level 1, Boston Convention and Exhibition Center
Speakers
Ellie Juarez, Oxford Nanopore Technologies
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Areeba Patel, PhD, German Cancer Research Center, HeidelbergDr. Areeba Patel is a research scientist at the German Cancer Research Center (DKFZ) affiliated to the departments of Paediatric Neurooncology, Neuropathology and AI in Oncology. Currently, she leads tech R&D at Heidelberg Epignostix as the Head of New Technologies. Areeba has a background in engineering and completed her masters in Cancer Biology at Imperial College London. She completed her PhD in computational neuropathology in the lab of Felix Sahm at the DKFZ. Her research revolves around developing novel solutions using emerging technologies like Nanopore sequencing and AI-based computational histopathology to make precision CNS tumour diagnostics swift, accessible and affordable. She has developed MNP-Flex- a platform agnostic methylation classifier and Rapid-CNS2- a pipeline that enables rapid intraoperative molecular classification followed by comprehensive molecular profiling within the same day.
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Francisco Marchi, PhD, ALMA Genomics IncFrancisco was born and raised in Brazil and is a cancer survivor dedicated to advancing precision medicine in hematology-oncology. A Jack Kent Cooke Scholar, he earned his Ph.D. from the University of Florida studying acute leukemia epigenomics. He authored Take This Chemo, co-founded the Heroes of Medicine Foundation to support young, end-of-life patients, and now builds ALMA Genomics to streamline genomic interpretation for hematopathology. He also supports clinical trial design as a patient advocate in the Children’s Oncology Group.
Rare Disease Workshop
Oxford Nanopore Technologies: Unlocking hidden genomic regions for rare disease research
Join us on Corporate Workshop Day to discover how Oxford Nanopore's long-read sequencing is revolutionizing whole genome analysis and rare disease research. First, Scott Hickey from Oxford Nanopore Technologies will demonstrate the performance and utility of any read length nanopore sequencing in identifying challenging medically relevant genes including D4Z4/ DUX4 in FSHD samples. Next, Brian Haynes, Chief Scientific Officer of Bio-Techne will describe how Asuragen's Carrier Plus assay leverages nanopore sequencing to provide a single, flexible workflow for richer insights in high prevalence carrier screening. Join this Corporate Workshop session to explore innovations reshaping precision medicine and rare disease research.
Date: Wednesday, November 12, 2025
Time: 02:00 pm-02:50 pm PST
Location: Room 156AB, Level 1, Boston Convention and Exhibition Center
Speakers
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Alex Lindell, Oxford Nanopore TechnologiesAlex Lindell is Senior Director of Clinical Solutions at Oxford Nanopore Technologies, where he leads global clinical strategy, market development, and product innovation in the application of nanopore sequencing to human disease. He previously held roles at Illumina and Lineagen where he focused on developing solutions to major unmet medical needs including rare and undiagnosed genetic diseases, neurodegenerative diseases, pulmonary diseases, and transplant matching and rejection.
Asuragen’s recently launched Carrier Plus assay leverages amplification-based nanopore sequencing to enable high-confidence characterization of technically challenging genes included in the ACMG Tier 3 carrier screening recommendations in a single workflow. This presentation will highlight results from a global multisite evaluation of the assay’s performance and share preliminary data on expanded content designed to address additional complex regions and genes that remain difficult to resolve with conventional methods.
Asuragen’s recently launched Carrier Plus assay leverages amplification-based nanopore sequencing to enable high-confidence characterization of technically challenging genes included in the ACMG Tier 3 carrier screening recommendations in a single workflow. This presentation will highlight results from a global multisite evaluation of the assay’s performance and share preliminary data on expanded content designed to address additional complex regions and genes that remain difficult to resolve with conventional methods.
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Brian Haynes, CSO, Asuragen, a Bio-Techne BrandFacioscapulohumeral muscular dystrophy (FSHD) is caused by contractions in the D4Z4 repeat array on chromosome 4 and epigenetic dysregulation of the DUX4 gene. Current diagnostic methods rely on a combination of optical genome mapping, methylation-sensitive Southern blotting, and NGS. These approaches can be labor-intensive and have limited resolution. Here, we present an Oxford Nanopore sequencing-based approach that accurately resolves both short pathogenic and long wild-type D4Z4 arrays, using 30 kb reads to generate haplotype-resolved local assemblies. Ultra-long (100 kb+) reads that span the entirety of some arrays were used to confirm the results, up to 58 repeat units. In addition, methylation analysis revealed hypomethylation in short affected alleles, and hypermethylation in unaffected copies, revealing additional mechanistic confirmation in FSHD1. Finally, FSHD2-like samples with DNMT3B mutations showed global reduction in D4Z4 methylation, demonstrating pathogenic variant detection, D4Z4 measurement, and methylation readout from a single assay. This workflow offers a scalable, high-resolution alternative to traditional methods, with potential for future streamlined clinical FSHD analysis.
Facioscapulohumeral muscular dystrophy (FSHD) is caused by contractions in the D4Z4 repeat array on chromosome 4 and epigenetic dysregulation of the DUX4 gene. Current diagnostic methods rely on a combination of optical genome mapping, methylation-sensitive Southern blotting, and NGS. These approaches can be labor-intensive and have limited resolution. Here, we present an Oxford Nanopore sequencing-based approach that accurately resolves both short pathogenic and long wild-type D4Z4 arrays, using 30 kb reads to generate haplotype-resolved local assemblies. Ultra-long (100 kb+) reads that span the entirety of some arrays were used to confirm the results, up to 58 repeat units. In addition, methylation analysis revealed hypomethylation in short affected alleles, and hypermethylation in unaffected copies, revealing additional mechanistic confirmation in FSHD1. Finally, FSHD2-like samples with DNMT3B mutations showed global reduction in D4Z4 methylation, demonstrating pathogenic variant detection, D4Z4 measurement, and methylation readout from a single assay. This workflow offers a scalable, high-resolution alternative to traditional methods, with potential for future streamlined clinical FSHD analysis.
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Dr. Scott Hickey, Oxford Nanopore Technologies
