Month: October 2024

ATCC Insights: Base-Calling in Genomics

David Yarmosh from ATCC presented at the Nanopore Community Meeting in Boston. The session’s title was intriguing: “How good is good enough?” Yarmosh is a bioinformatician with ATCC. They noted that the ATCC was founded in 1925 and now has nearly 5,000 genomes. Yarmosh explained that they are doing about 1,000 genome assemblies per year. […]
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Understanding Structural Variants in Cancer Genomes

Michael Dean from the National Cancer Institute presented at the Nanopore Community Meeting in Boston on “Diverse structural variants cluster near breakage-fusion-bridge site in cancer genomes.” Dean spoke about oncogene amplification and the need for high-quality cancer genomes for SV analysis. They have developed a standard extraction method with size selection to obtain long reads. […]
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Case Study: Genomic Approaches to Complex Antibiotic-Resistant Infections

Ela Sauerborn from the Helmholtz Al Institute in Munich, Germany, presented at the Nanopore Community Meeting on the “Detection of hidden antibiotic resistance through real-time genomics.” They spoke about a specific case they published on complex pneumonia. Real-time genomics in the clinical microbiology lab is of interest. Sauerborn talked about the increase in carbapenem-resistant Enterobacteriales. […]
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Understanding Copy Number Variations in Intraoperative Brain Tumor Detection

Chun-Chieh Lin from Dartmouth Health spoke at the Nanopore Community Meeting in Boston on “Nanopore-based random genomic sampling for intraoperative diagnosis of brain tumors and beyond.” They focused on copy number and methylation alterations. Lin explained that copy number variation (CNV) is a common variant. Current approaches are karyotyping and comparative genomic hybridization, targeted with […]
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Advancements in Tumor Classification with Nanopore Technology

Ana Peres from UNC-Chapel Hill presented at the Nanopore Community Meeting on “Unraveling gene expression patterns in pediatric germ cell tumors: a nanopore sequencing approach.” They spoke about how rare pediatric tumors are and the differentiation stages. Germ cell tumors can occur in the gonads and along the midline of the body. Peres and team […]
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Decoding HIV Splicing Patterns with Long-Read RNA Sequencing

I watched Christian Gallardo from the Seattle Children’s Research Institute present at the Nanopore Community Meeting tonight. The title of the five-minute session was “Decoding the spliced HIV-1 transcriptome with accurate long-read RNA sequencing.” They described HIV as a retrovirus that infects CD4 T-cells and behaves like a gene upon integration. Gene expression is regulated through splicing. […]
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X-Linked Dystonia-Parkinsonism: Insights from Nanopore Sequencing

Vivien Horvath from Lund University in Sweden presented at the Nanopore Community Meeting in Boston. The title of the session was “Studying disease-causing polymorphic transposable element insertions using nanopore sequencing.” They work on X-linked Dystonia-Parkisonism (XDP), an adult-onset neurogenerative disorder. Interestingly, it affects mostly males from Panay, Philippines, and is characterized by neuronal cell loss […]
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Innovations in Genetic Testing: The CRDC’s Impact

Wanqing Shao from Boston Children’s Hospital presented at the Nanopore Community Meeting on “Maximizing the power of genomic sequencing in pediatric rare disease.” Shao is a Genomics Scientist working in a collaborative team: the Children’s Rare Disease Collaborative (CRDC). They are interested in rare and complex diseases that are often misdiagnosed. Shao also noted that […]
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Advancements in Structural Variant Detection with Sniffles2

Fritz Sedlazeck from Baylor College of Medicine spoke at the Nanopore Community Meeting in Boston on the “Detection of mosaic and somatic structural variants with Sniffles2.”Sedlazeck spoke about the advantages of long-read sequencing for structural variant detection. Their team is improving Sniffles2 for insertions and deletions and larger structural variants. Full structural variant genotyping requires […]
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