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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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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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Evaluating Hospital Infection Transmission with Nanopore Sequencing

Samuel Shelburne from the University of Texas MD Anderson Cancer Center presented at the Nanopore Community Meeting in Boston. The session’s title was “Use of Oxford Nanopore sequencing to evaluate potential transmission of hospital infections.” Shelburne began by discussing healthcare-associated infections (HAIs), which are among the top ten leading causes of death in the US! Infection Prevention […]
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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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Personalized Diagnostics Through Nanopore Technology Advances

Tasos Gogakos from Arena BioWorks and Massachusetts General Hospital spoke at the ONT Biopharma Day. The title of the session was “Nanopore sequencing at the intersection between the clinic and biotech.”Gogakos is a clinical pathologist who recently started at Arena BioWorks. Gogakos began by sharing two clinical cases. The patient had lung cancer and molecular […]
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