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Nanopore Sequencing Revolutionizes Cell Engineering

Daniel K. Fabian from Lonza in the UK presented at the Biopharma Day in Boston on “Precision cell engineering enabled through nanopore sequencing.” Lonza Biologics produces therapeutic molecules for clients using CHO cell-based manufacturing pipelines. The first step is the construction of the vector. The DNA is transfected into their cell line, and clones are […]
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Basecalling Innovations in Direct RNA Sequencing

We’ve been discussing the direct RNA sequencing kit and process in class. Tonight, I watched Bronya Boydon, Machine Learning Bioinformatician with Oxford Nanopore Technologies, provide the “Direct RNA basecaller update” as part of the Nanopore Community Meeting. Boydon described how RNA is translocated through the pore. Direct RNA has the benefits of long reads, simplicity, […]
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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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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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Resolving DMD Intragenic Duplications with Nanopore Technology

Tonight, I watched Qiliang (Andy) Ding from the Mayo Clinic present at the Nanopore Community Meeting in Boston. The session’s title was “Resolving structural configurations of DMD intragenic duplications through nanopore long-read sequencing.” Ding is a Laboratory Genomics Fellow. Ding noted that the DMD gene encodes dystrophin, an essential protein for muscle function. This gene is associated […]
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Insights into RNA Maturation and Genetic Regulation

Karine Choquet from the University of Sherbrooke in Canada presented at the Nanopore Community Meeting in Boston. The session’s title is “Genetic regulation of nascent RNA maturation revealed by direct RNA sequencing.” Newly synthesized RNAs are exported to the cytoplasm for translation. The research team was interested in learning more about RNA processing and poly(A) […]
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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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