Oxford Nanopore Technologies

Unveiling the Potential of Long-Read Sequencing in Newborn Screening

Tonight, I watched Cate Paschal from the Seattle Children’s Hospital. They spoke about “Exploration of long-read sequencing in the resolution of newborn screening.” This was a London Calling 2024 session. Paschal spoke about newborn screening as a diagnostic test for rare diseases. Paschal explained that Pompe disease is a glycogen storage disorder with a prevalence […]
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HERRO: Haplotype-Aware Error Correction of Ultra-Long Nanopore Reads by Mile Sikic

Mile Sikic from the Genome Institute of Singapore spoke at London Calling 2024. The session’s title was “HERRO: haplotype-aware error correction of ultra-long nanopore reads.” Sikic noted that HERRO can be used for any type of Nanopore reads. They developed Racon seven years ago. Now, there are phased genomes, and the challenge is to maintain […]
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Enhancing Biopharmaceutical Safety Through Sequencing

Thomas R. Kreil from Takeda Austria presented at London Calling 2024. The session title was “Pathogen safety in biopharma: sequencing to come.” Kreil began by noting that they do not want to detect viruses in biopharmaceuticals. For this, they use Adventitious Agent Testing (AAT): they search for cytopathic effects on cells. However, current methods are […]
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Phylogenetics and Phylogeography of HIV: Insights from Big Events Research

Tetyana Vasylyeva from the University of California, Irvine, presented at London Calling 2024. The topic was “Informing infectious disease interventions with genomics during big events.” I was curious about the big events! This session was part of the Clinical & Biopharma Day on Friday, May 24, 2024. Vasylyeva studies phylogenetics, phylodynamics, and phylogeography of HIV! […]
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Long-Read Sequencing for Rare Diseases: Clinical & Biopharma Day Highlights

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 […]
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Nanopore Sequencing in Clinical Settings: Canadian Transplant Innovations

The London Calling 2024 session I watched tonight is called “Precision immunology in transplant: paving the way to operational tolerance.” Karen Sherwood from The University of British Columbia presented the Genome Canada Transplant Consortium work. The group noticed that trying to match organs and recipients on a genetic level was complex. Using next-generation sequencing, HLA […]
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Rapid Nephrogenomics for Thrombotic Microangiopathies: Significant Time Frame Improvements

Tonight I watched the London Calling session on “Rapid nephrogenomics for thrombotic microangiopathies.” Laurent Mesnard from Sorbonne University in France was the presenter. They defined thrombotic microangiopathies (TMA) as a group of rare diseases with similar manifestations. Early diagnosis of TMA is essential. It currently takes about three days to screen. The Regulator of Complement […]
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iDTECT Integration Site Analysis Assay: Revolutionizing Quality Control for Rare Diseases

Jose-Crispin Zavala Alvarado works at PathoQuest in France. They gave a presentation at London Calling 2024. The topic was “iDTECT Integration Site Analysis assay: a paradigm shift for the quality control of biologics in rare diseases.” This collaboration between PathoQuest and Oxford Nanopore was highly productive. It resulted in the launch of the first ONT-driven […]
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EPI2ME 2024: Data Analysis and Genomic Tools

Jimmy Creith is a Field Applications Scientist in bioinformatics. They work with Oxford Nanopore Technologies and presented the London Calling 2024 Masterclass I watched tonight. The session title was “How to analyse your data with EPI2ME.” We will use EPI2ME in the course. Creith focused on how EPI2ME can be used for small and large […]
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Nanopore Sequencing Library Prep: Techniques and Comparison

Tonight, I watched Jessica Anderson, a Senior Field Applications Scientist with Oxford Nanopore Technologies (ONT), present at London Calling 2024. The session was part of the Masterclass 2024 series. It was titled “How to select the right library prep workflow for your experiment.” This session started with an introduction describing how nanopore sensing works. Anderson explained that during […]
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