sequencing

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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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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Understanding RNA Modifications: Insights from Nanopore Sequencing

Logan Mulroney from the EMBL-EBI in the UK and Italy spoke at the Nanopore Community Meeting in Boston. The title of the session was “A survey of RNA modifications across the human transcriptome by direct RNA nanopore sequencing.” They spoke about RNA modification and their implications in diseases such as cancer. RNA modifications can have […]
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Advancements in Nematode Research through Long-Read Sequencing

Laura Kamenetzky from CONICET Argentina presented at the Nanopore Community Meeting in Boston on “Consolidation of a long-read sequencing platform in southern South America.” They have established the first long-read sequencing platform in Argentina at a university. Since 2020, they have focused on several scientific questions. Kamenetzky spoke about their projects related to Dioctophyme renale […]
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Microbial Identification Methods in Biopharma

Radhakrishna Tirumalai from Meck presented at the ONT Biopharma Day in Boston. The session, “Microbial identification in biopharma, ” focused on microbial identification methods in the biopharma industry. Tirumalai explained that analytical techniques can be appropriate in specific scenarios. For example, a microbial identification system may require precise identification at the genus or even strain […]
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mRNA Vaccine Quality Control with Nanopore Sequencing

Helen Gunter from The BASE Facility of The University of Queensland in Australia presented at the ONT Biopharma Day. The session’s title was “Using nanopore sequencing for mRNA vaccine quality control: a journey from R&D to GMP.” They noted that since the COVID vaccines, there has been interest in synthetic mRNAs. Gunter spoke about the […]
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Advancements in Adventitious Agent Detection at ONT Biopharma Day

Serge Monpoeho from Regeneron Pharmaceuticals in the US presented at the ONT Biopharma Day in Boston. The title of the session was “Adventitious agent screening by long-read NGS.” They wanted to develop an Oxford Nanopore-driven adventitious agent detection system. They used the Ligation Sequencing Kit, heat extraction, and custom universal PCR primers. They ran for […]
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Navigating GMP Compliance for NGS Testing

Colette Cote from PathoQuest presented at the Biopharma Day at the Nanopore Community Meeting in Boston. The session’s title was “The art of GMP in the world of NGS: trials, tribulations and a whole lot of acronyms—a success story.” The speakers discussed GMP compliance and the history of next-generation sequencing. Cote explained that there is […]
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