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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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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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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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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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Understanding Long-Read Phasing Methods in Genomics

Nikhita Damaraju from the University of Washington in Seattle presented at the Nanopore Community Meeting in Boston. The session’s title was “Evaluating the quality of long-read phasing methods in clinically relevant genes.” They explained that variants are inherited in equal measure. Damaraju defined phasing as the process of assigning variants to parental copies. Understanding which […]
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Understanding Transcription Factors and Chromatin Accessibility

Alisa MacCalman from the University of Exeter in the UK presented at the Nanopore Community Meeting in Boston this year. The title of the session is “Understanding the binding of multiple transcription factors by base-pair-resolution chromatin accessibility.” The lab is interested in regulatory regions of the genome and how they help encode the diversity of […]
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Unlocking Plant Genetics: Insights on DNA Methylation in Maize

Jack Colicchio from Sound Agriculture in the US presented at the Nanopore Community Meeting in Boston on “DNA methylation patterns explain missing heritability in maize.” This ten-minute session was part of a breakout group. Colicchio spoke about the need for more resilient crops to address pollution, climate change, and population changes. They spoke about how, […]
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Mapping Active rRNA Gene Clusters in Arabidopsis

Tonight, I watched a shorter Nanopore Community Meeting Boston session. Anastasia McKinlay from Indiana University & HHMI presented on “Positional mapping of active versus silenced rRNA gene clusters within A. thaliana nucleolus organizer regions. McKinlay spoke about nucleolus organizer regions in Arabidopsis thaliana. These positions are difficult to understand with shorter reads. Long-read sequencing helped […]
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Enhancing Single-Cell Analysis with EPI2ME

Individual cell analysis is possible with Oxford Nanopore Technologies (ONT). Matt Parker from ONT spoke about “Individual cells matter – single-cell data analysis with EPI2ME.” EPI2ME cloud was launched, and cloud-based analyses are possible. I have been testing and mentioning the new version in the Portable Genome Sequencing course. Bryan Leland, a Bioinformatics Manager with […]
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Latest EPI2ME Features for Variant Analysis Explained

Matt Parker, the Director of Clinical Bioinformatics Software at Oxford Nanopore Technologies, facilitated the Nanopore Community Meeting Boston 2024 session on variant analysis with EPI2ME. The title of the presentation was “Ultra-rich human data – variant analysis with EPI2ME.” They shared the EPI2ME user interface updates that were recently released. There is a new element […]
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