Oxford Nanopore Technologies

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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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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Revolutionizing Genetic Research: needLR Tool Explained

J. (Gus) Gustafson from the University of Washington spoke at the Nanopore Community Meeting in Boston about “needLR: a structural variant filtering and prioritization tool for long-read sequencing data.” They noted that half of suspected Mendelian conditions remain undiagnosed after current clinical testing methods. The Miller Lab at the University of Washington uses Oxford Nanopore […]
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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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Understanding 6mA Methylation in Mitochondria

Latana Grub from Vanderbilt University spoke at the Nanopore Community Meeting in Boston. The session was titled “Long-read sequencing reveals the molecular landscape of mitochondrial DNA 6mA methylation.” Grub studies mitochondria. They noted that mitochondria are important organelles with their own genome and are critical for energy. Mitochondrial DNA has only one regulatory system. Grub […]
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Improving Reproductive Therapies with Nanopore Sequencing

Svetlana Madjunkova from the CReATe Fertility Centre in Canada presented at the Nanopore Community Meeting in Boston. The session’s title was “Nanopore sequencing in reproductive care.” Nanopore sequencing can be used in reproductive care at several stages of assistive reproductive therapies. Preimplantation genetic testing can improve the success of transfers. Madjunkova noted that current next-generation […]
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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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Ecuador’s Endangered Species: The Role of Genomics

Gabriela Pozo from the University of San Francisco de Quito in Ecuador presented at the Nanopore Community Meeting in Boston. The session’s title was “Obtaining reference genomes of emblematic and endangered Ecuadorian species.” Pozo noted that Ecuador is one of the seventeen megadiverse countries globally. However, conservation efforts are also needed. Genomics, noted Pozo, can […]
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