Softwares

Unlocking Canavan Disease: The Role of Long-Read Sequencing

Danny E. Miller from the University of Washington presented at London Calling 2025 on “A diagnostic blind spot: an intronic SVA_E insertion as the most common cause of Canavan disease.” Miller returned to some ideas he has presented saying long-read sequencing has great potential for genetic workups. Traditional genetic workup is often “stepwise and diagnostic […]
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Long-Read Sequencing: Solving Genetic Diagnostics Challenges

Sebastian Lunk from the Victorian Clinical Genetics Services (VCGS) in Australia spoke at London Calling 2025 on “Long-read sequencing and adaptive sampling solve complex diagnostic conundrums.” VCGS is a not-for-profit subsidiary of Murdoch Children’s Hospital with forty years of clinical genetic service delivery and 20,000 diagnostic tests performed annually. With 330 staff, they have the […]
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Updates from the CARD Applied Neurogenomics Team

Kimberley Billingsley from the National Institutes of Health in the USA spoke at London Calling 2025 on “Decoding the genomics of neurodegenerative diseases with large-scale, long-read sequencing.” This session was an update from the CARD Applied Neurogenomics group. Billingsley divided the session into three topics: long-read sequencing, methylation, and RNA sequencing. Billingsley emphasized that current […]
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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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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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Exploring Epigenetics in Cancer: Mustafi’s Insights

Debarshi Mustafi from the University of Washington spoke about using long-read approaches to learn about genomic and epigenomic basis of cancer. The session was part of an Oxford Nanopore Technologies (ONT) YouTube video I watched tonight. Mustafi said that “there can be a lot embedded in the genetic material that we are understanding over time.” […]
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Enhancing AI Literacy in Higher Education

Maria Pares-Toral, the Associate Director of Faculty Development at Milwaukee School of Engineering, presented at the Quality Matters (QM) conference. They presented on “Advancing AI Literacy within your Institution.” At team on their campus was tasked with developing a plan for their university. This group included faculty collaborating across departments. Planning and implementation led to […]
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AI Empowerment in Instructional Design: Insights from QM Conference 2025

Steve Kaufman, Senior Instructional Designer & Strategic Initiatives Coordinator, presented at the QM Quality in Action Conference 2025. This was their second or follow up session titled “The AI Empowered Instructional Designer 2.0.” They shared resources at bit.ly/ai-empowered-id Kaufman asked participants about their feelings on AI and whether the their institutions have policies on AI […]
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