Reflections

Exploring Personalized Oncogenomics with High Coverage Sequencing

Tonight I watched Kieran O’Neill from Canada’s Michael Smith Genome Sciences Centre speak about “Long-read sequencing of an advanced cancer cohort” as part of London Calling 2025. This centre, O’Neill explained is one of the largest sequencing centers in Canada. The centre has a cohort of 189 diverse advanced cancer patients. With their personalized oncogenomics […]
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Identifying Novel Gene Isoforms with CT-seq

Yasuhiro Murakawa from Kyoto University in Japan presented at London Calling 2025 on “A compendium of human RNA structures and modifications.” Kazuhiro Takeuchi from the Murakawa lab generated a de novo human transcriptome assembly using “full-length” cDNA sequencing. Murakawa noted that there are many RNA forms and regulation events. Long-read sequencing methods, while useful in […]
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NIHR BioResource: Transforming Genomics for Diagnosis

Nathalie Kingston and Kathy Stirrups from the NIHR BioResource in the UK presented at London Calling 2025 on “Using long-read sequencing for translational health research.” The NIHR BioResource has ~300,000 participants and a recallable resource. Samples can be identified by phenotype and genotype. The BioResource has panels of participants from several diseases and groups. Stirrups […]
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Acute Leukemia Classification Using Machine Learning

Salvatore Benfatto from the Dana-Farber Cancer Institute presented at London Calling 2025 on “Rapid epigenomic classification of acute leukemia.” Benfatto started with a clinical case of a sixty-one year old female patient with intermittent fevers, fatigue, and leukocytosis. Multiple tests had to be run in parallel, including flow cytometry, karyotyping, immunohistochemistry… The process is time […]
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London Calling 2025 ONT Application Updates

Sissel Juul, Vice President of Applications with Oxford Nanopore Technology and Sean McKenzie, Associate Director of Genomics Applications, provided the London Calling 2025 applications update. Juul explained that the applications team is global. Haplotype-resolved genetic variation detection and interpretation has been updated to use assembly approaches. However, assembly can be very challenging, especially with two […]
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Case Studies on 16S rRNA Sequencing in Clinical Diagnostics

Dr. Anna Smielewska, a consultant virologist in the UK, spoke at ESCMID Global about 16S rRNA sequencing in healthcare settings. The title of the session was “Implementing portable, real-time 16S rRNA sequencing in the healthcare sector enhances antimicrobial stewardship.” Smielewska works with the Liverpool University Hospitals, several hospitals with a broad range of cases. The […]
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Antimicrobial Resistance Detection Using Nanopore Sequencing

Kim Musser, Clinical Director, Wadsworth Center, David Axelrod Institute, presented at ESCMID Global on the use of nanopore sequencing in public health investigations. The title of the session was “Implementing next generation sequencing for rapid diagnostics and public health investigations.” Musser spoke about using nanopore sequencing for antimicrobial sequencing for antibiotic resistant bacteria to characterize […]
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Implementing Rapid Metagenomics Protocols in Healthcare

Tonight I returned from my first SABER East! It was a lot of fun! The video I watched tonight was Judith Brueur from the Great Ormond Street Hospital (GOSH) discuss the implementation of a respiratory metagenomics protocol at Guy’s and St. Thomas’ Hospital (GSTT) using Oxford Nanopore Technologies (ONT). The protocol was developed by the […]
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Advancements in Bacterial Genomic Surveillance

Dr. Gabriel E. Wagner from the Medical University of Graz presented on “Reliable whole-genome genotyping for bacterial surveillance using nanopore sequencing data” as part of the Oxford Nanopore Technologies (ONT) YouTube series. Wagner spoke about the importance of genomic surveillance for both known pathogens and surveillance of variants, including antimicrobial and vaccine resistance. This topic, […]
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Machine Learning for Quick Leukemia Diagnosis

Tonight I watched Gabriel Griffin, Assistant Professor, Dana-Faber Cancer Institute present an Oxford Nanopore Technology session titled “Rapid epigenomic classification of acute leukemia with long-read sequencing.” Griffin spoke about leukemia diagnosis requiring multiple steps and time: morphology, flow cytometry, immuno histochemistry stains, targeted sequencing, and cytogenetics. This can take up to fourteen days. Griffin and […]
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