Year: 2024

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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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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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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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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Understanding Male Infertility Causes through Long-Read Sequencing

Thomas Garcia from Baylor College of Medicine spoke at the Nanopore Community Meeting in Boston on “Long-read sequencing for comprehensive profiling of infertile men.” There are pre and post-testicular causes of infertility, Garcia mentioned. Pre-testicular causes include Kallmann syndrome, Beta thalassemia, and sickle disease. Intrinsic testicular causes of infertility include chromosomal abnormalities, Y-chromosome microdeletions/duplications, and […]
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Understanding Methylation’s Impact on Gene Expression

Brynja Sigurpalsodottir from deCODE Genetics in Iceland presented at the Nanopore Community Meeting in Boston. They explained how methylation can be detected with base-calling. The dataset they created is from 7,179 whole blood samples sequenced on R9.4 PromethION flow cells. The team compared sample-to-sample profiles and methylation approaches. The results were published and showed the […]
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