genetics

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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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Exploring Nanopore Sequencing for Human Genomes

Tonight, I started watching the Oxford Nanopore Technologies webinar on September 11, 2024. The title was “Unlocking comprehensive genomes for large-scale projects.” Dr. Karen Stewart moderated the event. Cora Vacher, Associate Director of Segment Marketing – Human Genetics with ONT, began by introducing “the era of complete genomes.” They spoke about the importance of Nanopore ultra-long reads […]
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FDA’s Precision Genomics: Modernizing Food Safety Techniques

The Precision Genomics session at the Nanopore Community Meeting in Boston included a session by Julie Haendiges from the U.S. Food and Drug Administration. They explained that they are tasked with safeguarding more than $1.5 trillion worth of food, cosmetics, and dietary supplements. Haendiges spoke about how they are modernizing and optimizing methods. They explained […]
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Understanding Isoform Diversity in the Mouse Retina

Tonight, I watched a session on single-cell and spatial transcriptomics methods. The Oxford Nanopore Technologies (ONT) introduction highlighted how adding more cells increases resolution, yet short-read approaches have limits. Emphasizing the tagline “What’s missing matters,” the speaker noted that isoform switching is important to identify. The ONT specialist explained several solutions compatible with ONT, including […]
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Enhancing Virus Detection with NGS: Lessons from Industry Leaders

The Biopharma Day, part of the Nanopore Community Meeting 2024 in Boston, included a session on “Implementation of sequencing in a regulated environment.” David VanHoute is from Regeneron Pharmaceuticals. VanHoute is in the manufacturing site of Regeneron and working on validating and implementing NGS assays. They are “in the business of hunting for viruses” and […]
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Advancements in Carrier Screening: Insights from Experts

Alex Lindell, Senior Director at Oxford Nanopore Technologies in the Clinical division, facilitated the Showcase on “Carrier Screening” at the Nanopore Community Meeting in Boston. Bradley Hall from Asuragen US spoke about developing an eleven-gene panel for traditionally difficult-to-detect variants. The kit is a carrier screening panel using Asuragen’s technologies. Next, Anne-Sophie Lebre from CHU […]
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Highlights from the Nanopore Biosurveillance Session

Tonight, I watched the recording of the Showcase Biosurveillance session at the Nanopore Community Meeting 2024. Ana Maria Niewiadomska, Segment Market Manager for Public Health with Oxford Nanopore Technologies, spoke to experts. Alex Kneubehl from Baylor College of Medicine spoke about his work on public health-related projects. Kneubehl and team have trained public health scientists […]
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Transforming Cancer Care with Nanopore Sequencing

Mathilde Filser from the Curie Institute in France presented at the Nanopore Community Meeting in Boston. The title of the session was “Transforming cancer care: redefining cancer characterization and predisposition insights through nanopore sequencing.” They study tumors and spoke about using nanopore sequencing for variant analysis. They used nanopore and adaptive sampling. They prepared libraries […]
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MSK-IMPACT: Innovative Approaches in Targeted Cancer Sequencing

Stephanie Chrysanthou from the Memorial Sloan Kettering Cancer Center in the US spoke at the Nanopore Community Meeting about “Detection of germline alterations in homologous recombination repair genes by adaptive sampling.” They mentioned that pathology comes from the Greek word that is the study of suffering! The Memorial Sloan Kettering Integrated Mutation Profiling of Actionable […]
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Nanopore Transcriptomics: Discovering Isoforms in Renal Cells

Megan L. Noonan from Washington University School of Medicine in St. Louis spoke at the Nanopore Community Meeting in Boston. The session’s title was “Bulk and single-cell nanopore transcriptomics to identify alternative splicing in renal tubule cells.” Noonan spoke about the need to create new therapeutics for therapeutics. They explained that alternative is a regulatory […]
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