Oxford Nanopore Technologies

Examining Inherited Retinal Diseases with ONT

Debarshi Mustafi from the University of Washington presented at the Nanopore Community Meeting in Houston on “Complex phased variants in inherited retinal diseases with long-read sequencing.” Mustafi talked about the thin layer of tissue forming the retina. They are interested in inherited retinal diseases (IRDs). For a long time, people thought these were auto-immunity-related diseases. […]
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Case-specific Reference Genomes for Pathogen Strain Typing

“Using long-read sequencing to generate a case-specific reference genome for pathogen strain typing” was the intriguing title of the Oxford Nanopore Community Meeting in Houston I watched tonight. Per Aspera Adastra from Baylor College of Medicine and Texas Children’s Hospital presented. They discussed a case with mother and neonate with Candida infection following fetal surgery […]
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Data Analysis Options with ONT

Tonight I watched the Nanopore Community Meeting Houston session by Bryant Catano, ONT Product Specialist. The session was a Masterclass entitled “How to get started with data analysis.” Catano spoke about the variety of options for data analysis available, from point-and-click to command line. Tools are available that are accessible, scalable, and versatile. Catano noted […]
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NCM Houston Updates

Tonight I watched the Update from Oxford Nanopore Technologies from NCM Houston. They started by explaining how the engineered motor protein and nanopore have been optimized for single-molecule high-throughput sequencing. There is an RNA-specific motor protein and nanopore. ONT allows for RNA modification detection, isoform characterization, and comparison of tails. RNA 004 is the new […]
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NCM Houston Applications Update

Tonight I watched the NCM Houston Update from Sissel Juul from Oxford Nanopore Technologies. The session is entitled “Covering all bases,” and Juul is the director of the applications team. The talk focused on variant calling mostly on the PromethION. About a year and a half ago, the telomere-to-telomere consortium published the T2T assembly in […]
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Cas9 Enrichment for ONT Sequencing

Tonight I watched the Oxford Nanopore Technologies Nanopore Learning Knowledge Exchange session on Cas9 PCR-free Enrichment. I think this kit has been discontinued, yet it is important to learn how it works. Anne-Marie Wadsworth presented the method of PCR-free enrichment using Cas9. Wadsworth noted that ONT has developed a method to use Cas9 to target […]
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ONT Library Preparation Methods

Tonight I watched the Oxford Nanopore Technologies Knowledge Exchange on “Library Preparation Kits and Methods.” David Stoddart is the Director of Sample Technology and recorded this session on January 30th, 2020. The session was focused on sequencing kits for DNA and RNA. They defined library preparation as “the act of converting sample into format compatible […]
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Starting to Assemble Genomes

Eoghan Harrington and David Stoddard from Oxford Nanopore Technologies presented on December 18, 2018 about Assembly as part of the Nanopore Learning Knowledge Exchange series. They are both in the Applications group. Harrington started by sharing how they approach new assembly projects from planning to sequencing. They listed the steps: planning, sequencing, assembly, and quality […]
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Phenotype Insight through 1000 Genomes

After an endoscopy and very drowsy day, I watched the Knowledge Exchange session entitled “Nanopore from 100 to 1000 genomes: towards a better understanding of phenotypes. Fritz Sedlazeck and Philipp Rescheneder were the speakers. Sedlazeck has presented with Oxford Nanopore Technologies (ONT) before and is an expert in structural variation analyses. This session was recorded […]
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