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 […]
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 […]
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 […]
London Calling 2024 had a Clinical & Biopharma Day on Friday, May 24, 2024. There was an expert panel on “Rare diseases reimagined: genomics in early detection and precision therapies” that I started watching tonight. Nabihah Sachedina, the VP of Health Programs with Oxford Nanopore Technologies (ONT) moderated the session. Five speakers were part of […]
Svetlana Madjunkova from the CReATe Fertility Centre in Canada presented at the Nanopore Community Meeting in Boston. The session’s title was “Nanopore sequencing in reproductive care.” Nanopore sequencing can be used in reproductive care at several stages of assistive reproductive therapies. Preimplantation genetic testing can improve the success of transfers. Madjunkova noted that current next-generation […]
I reached the London Calling 2024 session for the “10 years of nanopore sequencing applications.” Sissel Juul, VP of Applications, spoke about what the technology has enabled. The applications team worked on inspiring the community, showcasing the technology, and driving applications. Now, Juul noted, the team works with the community. Since 2014, the technology has […]
Tonight, I watched the London Calling 2024 Public Health Showcase. Associate Director of Global Segment Marketing Aaron Pomerantz helped moderate the session. Lara Urban from Helmholtz AI in Germany was the first speaker. Urban described the connections between One Health Genomics and Nanopore sequencing. One Health Policy was addressed with air microbiome to assess the […]
The London Calling 2024 session I watched tonight was titled “Long-read sequencing for pathogenic and novel variation discovery in rare diseases.” Ahmad Abou Tayoun from the Al Jailila Children’s Specialty Hospital in the United Arab Emirates was the presenter. This session was part of the Clinical & Biopharma Day on Friday, May 24, 2024. They spoke about […]
Danny E. Miller from the University of Washington spoke at London Calling on the clinical applications of long-read sequencing. The title of this session was “Long-read sequencing as the future of clinical genetic testing.” Miller started with three points. The first was that long-read sequencing will change clinical testing within five years. The second reason […]
Mark T.W. Ebbert from the Mayo Clinic presented at London Calling 2019 on “Long-read sequencing technologies resolve most ‘dark’ and ‘camouflaged’ gene regions.”Dark and camouflaged regions? Ebbert explained that regions can be dark because there are no reads available (“dark by depth“) or dark by low sequence quality (“dark by MAPQ“). Ebbert explained that most […]