Tonight I am in Seattle for the Allen Institute Open Science conference. I watched Rachel Samson P. from Cranfield University in the UK present on “Mapping coliphage diversity for next-generation drinking water security through the nanopore lens.” Samson gained expertise from graduate work to measure water quality and described using coliphage diversity as a proxy. […]
Ana Flavia is a PhD student at Barretos Cancer Hospital, Brazil, and also a visiting scholar at The University of North Carolina at Chapel Hill. Flavia presented at London Calling 2025 on “Advancing pediatric germ cell tumor classification through nanopore-based transcriptome analysis.” Germ cell tumors (GCT) were described as rare and diagnosed by morphological classification […]
Thidathip Wongsurawat presented at London Calling 2025 on “Nanopore-based HLA testing: a rising star driving real-world clinical implementation in pharmacogenomics.” Wongsurawat is from Mahidol university in Thailand. Wongsurawat has been using nanopore sequencing since 2017 and moved back to her hometown after doing research in the US. Now they work with a company and set […]
Marcel Nelen from the UMC Utrecht in the Netherlands, spoke at London Calling 2025 on “Nanopore sequencing: a newbie’s perspective on needs in a clinical setting.” The Genome Diagnostics section at UMC Utrecht is a genome diagnostic center that works under ISO accreditation. All the tests are accredited by the Dutch accreditation council. Nelen noted […]
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. […]
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 […]
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 […]
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 […]
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 […]
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 […]