Reflections

Resolving Structural Variants with Nanopore Sequencing

Belen de la Morena Barrio from the University of Murcia/CIBERER, Spain presented at London Calling 2022 on “Genetic dissection of structural variants in study subjects with antithrombin deficiency by nanopore sequencing.” Morena Barrio was introduced to Nanopore during their doctoral work, and they have now developed methods. They spoke about thrombin deficiency: antithrombin deficiency (SERPINC1) […]
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You can’t sequence what you don’t have!

Tonight I continued watching masterclass sessions from the 2022 London Calling event. Vania Costa is an Applications Scientist with Oxford Nanopore Technologies and presented a masterclass on “Preparation: extracting high-quality DNA and RNA.” They spoke about pre-lab considerations, sample storage, DNA and RNA extraction, sample quality control, and several case studies. Pre-lab considerations mentioned by […]
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Planning an Experiment with Oxford Nanopore Technologies Devices

Concetta Dipace is a Technical Services Manager with Oxford Nanopore Technologies and presented at the London Calling 2022 a masterclass introduction entitled “Getting started with nanopore sequencing and planning your experiment.” This session was similar in title to one from the Nanopore Community Meeting 2022, though there is always something new to learn in these […]
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Multiple Options for Nanopore Sequencing Library Prep

Tomasz Dobrzycki, a Technical Applications Scientist from Oxford Nanopore, presented at London Calling 2022 a masterclass on “Preparation: selecting the right library prep method for your experiment.” This is the second session I watch featuring Dobrzycki. This session began with the benefits of nanopore sequencing: real-time information-rich data. Oxford Nanopore Technologies (ONT) offers several options […]
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Nanopore Sequencing Devices

I finished the Nanopore Community Meeting 2022 videos and started the 2022 London Calling series. Bryant Catano is a Technical Applications Specialist with Oxford Nanopore Technologies. Catano is based at the New York offices. Their session was a masterclass on “Choosing the right nanopore sequencing device for your needs.” Catano spoke about the throughput of […]
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NCM 2022 Update

To end the series of YouTube videos from the Nanopore Community Meeting 2022, I watched the one hour session. Rosemary started by speaking about the vision of sequencing everywhere and the technology. They spoke about supporting R9 chemistry until the end of 2023. Kit 12 was discontinued. Kit 14 will be the one used used […]
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Long-read Sequencing and Subway Plots

Danny E. Miller from the University of Washington presented at the Nanopore Community Meeting 2022 a twenty-minute session entitled “Long-read sequencing resolves complex structural variants and identifies missing pathogenic variants in unsolved homphilia cases.” Miller spoke about the “diagnostic odyssey” for patients with genetic diseases and that “a traditional genetic workup is diagnostic in less […]
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Methods for Exploring the Genotyping Haystack

The next Nanopore Community Meeting 2022 session I watched was a longer: 27 min. “Finding the needle: haplotype-resolved discovery and annotation of clinically relevant genetic and epigenetic variants using whole-genome nanopore sequencing” was presented by Sissel Juul and Phillipp Rescheneder, both from Oxford Nanopore Technologies. Juul described the work of their team to sequence genomes […]
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Methylation Profiles of Cell-Free DNA in Cancer Research

Billy Lau from Stanford University School of Medicine spoke at the Nanopore Community Meeting 2022. Lau’s 20-minute session was entitled “Single molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing.” The study had the goal of exploring the “potential utility of nanopore sequencing for assessing cancer in cfDNA.” Lau explained that the conventional […]
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Entering the T2T Era?

Telomere-to-telomere assembly has been coming up in Nanopore Community Meeting 2022 sessions frequently. The session I watched tonight had it in the title: “Expanding studies of global genomic diversity with complete, telomere-to-telomere assembly of diploid genomes” presented by Karen Miga from the University of California, Santa Cruz. Miga shared information about the release of the […]
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