genomics

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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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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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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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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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Philipp Rescheneder on Multi-Omics and Rett Syndrome Insights

Philipp Rescheneder, the Senior Director of Applications for Bioinformatics at Oxford Nanopore Technologies, presented at the Nanopore Community Meeting in Boston. They presented an update based on an analysis of Rett syndrome, a rare genetic disorder that causes severe mental and physical disability. Rescheneder defined multi-omics for this study as the use of genomics, epigenomics, […]
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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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Advancements in AAV Genome Sequencing

Keith Connolly from Modalis Therapeutics spoke at the Biopharma Day in Boston. The title of the session was “Nanopore sequencing and functional screening of AAV genomes for optimal production and function.” Modalis is developing a platform for gene expression modulation. They have been packaging promoters, transgenes, poly(A) signals into AAV genomes. They have been using […]
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