sequencing

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 […]
Read more

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 […]
Read more

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 […]
Read more

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 […]
Read more

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 […]
Read more

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 […]
Read more

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 […]
Read more

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 […]
Read more

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 […]
Read more

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, […]
Read more
Press ESC key to close search