PromethION

Nanopore Sequencing in Clinical Settings: Insights from UMC Utrecht

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 […]
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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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Exploring Biodiversity with Oxford Nanopore Technologies and Barcoded Library Pools

Tonight I continued watching the PAG Industry Workshop offered by Oxford Nanopore Technologies. Sean Prosser from the University of Guelph presented “From pandemic preparedness to planetary biodiversity: ONT enables targeted amplicon sequencing at massive scale.” Prosser noted that there are almost 35,000 amplicon-based genetic tests available in the US per year. Prosser also noted that […]
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Exploring Clinical WGS on PromethION by Genomics England

Tonight, I continued watching the ONT webinar I started watching last night. The title of the session I watched was “Towards clinical WGS on the PromethION” by Greg Elgar, Director of Sequencing R&D at Genomics England. Elgar started by saying that they have three benchtop PromethIONs. Elgar described the timeline of Genomics England (GEL): they […]
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Addressing Rare Genetic Diseases: Insights from Paula Saffie

Paula Saffie from Clinica Santa Maria in Chile presented at the Nanopore Community Meeting in Boston on “Long-read sequencing: bridging the diagnostic gap for undiagnosed cases in Chile.” Saffie is a clinician and is working on a Ph.D. in Parkinson’s. Saffie wants to study the genetic diseases that their patients suffer. They spoke about rare […]
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Guide to Loading PromethION Flow Cells

I watched an updated version of the “Hot to load a PromethION Flow Cell” training tonight. Tomek Dobrzycki, a Field Applications Scientist from Oxford Nanopore Technologies, was the presenter. This is part of the masterclass series with the tagline “from sample to answer.” Dobrzycki began by explaining how one nanopore per well can be arranged. These […]
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Genomics England and ONT

I continued watching a longer session from Oxford Nanopore Technologies (ONT) summer programming tonight. “The era of complete genomes, at any scale” was the title of a session Cora Vaher gave. They talked about how methylation can be detected without additional library preparation. Haplotype-specific methylation could be very useful in learning about genetic diseases. Vaher shared a […]
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Advancing Cancer Detection with RNA Liquid Biopsies

Daniel Kim from the University of California, Santa Cruz, presented at London Calling 2024. The session was on “Advancing RNA liquid biopsy technology via nanopore sequencing.” The Kim lab is working on advancing cancer detection with liquid biopsies. RNA is secreted into the circulation in extracellular vesicles (EVs). Kim noted that EVs can protect RNA. […]
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CariGenetics: Innovating Genomic Sequencing with PromethION in Bermuda

Tonight, I watched the London Calling 2024 product demo. The title of the session was “From sample to insight: exploring human genomics with PromethION end-to-end sequencing solutions.” Rachel Rubinstein, a Technical Product Manager with ONT, was the moderator. They explained that with a single PromethION flow cell, you can obtain 100-200 Gbases of data and […]
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Ultra-Rapid, Long-Read Whole-Genome Sequencing with BadgerSeq

Stephen Meyn from the Center for Human Genomics and Precision Medicine at the University of Wisconsin-Madison presented at London Calling 2024. The session title was “BadgerSeq: a deecentralized model for ultra-rapid, long-read, whole-genome sequencing.” Meyn spoke about rare genetic disorders in the NICU and the importance of diagnosis. Meyn emphasized the need for speed and […]
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