Month: June 2025

Nanopore Sequencing for Precision Prescribing in Transplantation

Karen Sherwood from The University of British Columbia and Vancouver, spoke at London Calling 2025 on “Adaptive sequencing in transplantation: identifying immune-genomic risk profiles.” The Genome Canada Transplant Consortium (GCTC) was established and funded for nanopore sequencing of HLA epitopes. Now that the funding has ended the group has continued the work through another collaboration. […]
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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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Exploring Life’s Origins with Oxford Nanopore Sequencing

David W. Deamer from the University of California Santa Cruz presented at London Calling 2025 on “Oxford Nanopore sequencing: a way to explore life’s origin.” Deamer started with a quote from Charles Darwin speculating on the origin life. An alternative, Deamer shared, is an evaporating puddle on Mount Mutnovsky in Mamchatka, Russia. Evaporation of a […]
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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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Faster Turnaround in Infectious Disease Diagnosis with Metagenomics

Judith Breuer from the UCL Institute of Child Health in the UK presented at London Calling 2025 a session titled “How could we incorporate metagenomics into routine diagnostic microbiology?” Breuer defined metagenomics and explained how their work on rapid respiratory metagenomics. In the winter of 2024/2025, the group adapted their clinical metagenomics approaches for rapid […]
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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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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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