Month: November 2024

Panel Discussion on Genomics: Advancements in Rare Disease Detection

Tonight, I continued watching the London Calling 2024 Clinical & Biopharma Day on Friday, May 24, 2024. I continued watching the expert panel on “Rare diseases reimagined: genomics in early detection and precision therapies,” which I started watching last night. Nabihah Sachedina, the VP of Health Programs with Oxford Nanopore Technologies (ONT) moderated the session. Paul Arvidson from Genomics […]
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Exploring Genomics in Rare Diseases at London Calling 2024

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 […]
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Conservation Through Genomics: Org.one’s Impact on Endangered Species

It was nice to have a break and good food for Thanksgiving! Tonight, I watched the ORG.one session from the Nanopore Community Meeting 2024 in Boston. The session’s title was “ORG.one—enabling endangered species to bounce back,” which I enjoyed. Dan Fordham, the Director of Strategic Management with ONT and EMEA, was the facilitator of the showcase. The Org.one […]
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Challenges in Storing Large-Scale Genomic Data

Tonight, I watched the question and answer session of the Oxford Nanopore Technologies (ONT) webinar on “Unlocking comprehensive genome analyses for large-scale projects.” The panelists were asked about the role of methylation in large-scale genome sequencing projects. They spoke about investigating methylation in rare diseases, which is emerging as an area of interest. Another question […]
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Advancements in Methylation Studies Using Nanopore Sequencing

Brynja Sigurpalsdottir, a Research Associate at deCODE genetics in Iceland, spoke as part of the Oxford Nanopore Technologies webinar. The title of the session was “Large-scale methylation studies using nanopore sequencing.” deCODE is a subsidiary of Amgen. Sigurpalsdottir spoke about 5-mCpG methylation calling for ONT data. Initially, Nanopolish was one of the first algorithms trained […]
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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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The Future of NGS in Pharma: Highlights from the Nanopore Community Meeting

Tonight, I continued watching Biopharma Day, part of the Nanopore Community Meeting 2024 in Boston, and the session on “Implementation of sequencing in a regulated environment.” David VanHoute from Regeneron Pharmaceuticals is at Regeneron’s manufacturing site and working on validating and implementing NGS assays. Sebastian B. Teitz from very Teitz Consulting in Germany wore a PDA hat. PDA is […]
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