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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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, […]