Ruben Cools from VIB-KU Leuven, Belgium presented at London Calling 2025 on “Bridging genotype and phenotype through long-read, single-molecule multiomics.” They are working on a high-throughput long-read single-cell open chromatin and transcriptome profiling method. The SPLOGGET approach prepares whole-genome, open chromatin and full-length transcriptome sequencing libraries for single cells. Cools explained that the method uses […]
Thomas Alexander from the University of North Carolina spoke at London Calling 2025 about “Collaborative development of pediatric cancer diagnostics in low-resource settings.” Alexander is a physician and focused on the use of Oxford Nanopore Technologies (ONT) to diagnose cancers. Diagnostic accuracy is foundational, and low-resource countries have worse outcomes, noted Alexander. Using a single […]
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 […]
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 […]
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 […]