Oxford Nanopore Technologies' goal is to bring the widest benefits to society through enabling the analysis of anything, by anyone, anywhere. The company has developed a new generation of nanopore-based sensing technology that is currently used for real-time, accurate, accessible, and scalable analysis of DNA and RNA. The technology is used in more than 100 countries, to understand the biology of humans, plants, animals, bacteria, viruses and environments as well as to understand diseases such as cancer.

Meet our experts at ACMG 2023 in Salt Lake City for the latest product news and technical updates. Plus, see the nanopore presentations below to learn from scientists at ACMG using nanopore technology in their research.

Posters and presentations featuring nanopore sequencing at ACMG 2023

Platform presentations – Laboratory Genetics and Genomics Friday, 17th March (3:30 PM - 5:00 PM, Ballroom JHF) ID: O34 Laboratory Genetics and Genomics Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Rober tsonian translocation and ring chromosomes Fabiola Quintero-Rivera, MD, FACMG, University of California Ir vine, Yulia Mostovoy, MS Philip Boone, MD, PhD Steve Huang, PhD, Kiran Garimella, PhD, Julian A. Martinez-Agosto, MD, PhD, FACMG, Bianca E. Russell, MD, Tera Bowers, PhD, Tim De Smet, PhD, Stacey Gabriel, PhD, James F. Gusella, PhD, Harrison Brand, PhD, Michael E. Talkowski, PhD Oxford Nanopore Technologies

ID: O33 Laboratory Genetics and Genomics Concordance of Long-Read Genome Sequencing with Methylation Calling with Clinical Testing for Individuals with Prader-Willi or Angelman Syndrome Cate R. Paschal, PhD, FACMG, Laborator y Director, Seattle Children's Hospital and University of Washington, Anita E. Beck, MD, PhD, Madelyn A. Gillentine, PhD, Jaya Narayanan, BS, Paxton Reed, BA, Miranda Galey, MS, Danny E. Miller, MD, PhD

Poster ID: P672 Research Methods & Resources Long-read Sequencing Reveals a Novel Pathogenic Variant in IKBKG with Associated Skewed X-inactivation in Affected Females Danny E. Miller, MD, PhD, Seattle Children's Hospital, Camille Dash, BA in progress, David T. Miller, MD, PhD, FACMG, Miranda Galey, MS, Jasmine Lin, MS, Jill A. Madden, PhD, MSc, CGC, Alan H. Beggs, PhD, Pankaj Agrawal, MD, MSSc, Casie Genetti, CGC, Monica H. Wojcik