long-read sequencing

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GoT-Splice as Mutations Accumulate

Mariela Cortes Lopez from the Weil Cornell Medicine and New York Genome Center presented at the Nanopore Community Meeting in Houston about “GoT-Splice: unraveling cell-type-specific impact of splicing factor mutations.” Cortes Lopez is investigating mutations in splicing factors. They started by explaining that cells accumulate mutations with age and, therefore, the genomes of cells are […]
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Searching for Structural Variants of Interest in the 1000 Genomes Project

Gus Gustafson from the University of Washington spoke at the Nanopore Community Meeting in Houston about “Understanding normal patterns of human structural variation with nanopore sequencing.” Gustafson is a second-year graduate student. They provided background, including these statistics: >50% of suspected Mendelian conditions remain undiagnosed after clinical testing, and up to 2/3 of structural variants […]
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Sharing Insights about Rare Disease Research with ONT

Tonight I watched a London Calling 2023 session that was the rare disease research panel Q&A. One question was about the importance of methylation in rare diseases. Panelists were speakers from other London Calling 2023 sessions. They noted that sample type is important, as tissue and peripheral blood may be very different in terms of […]
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Rare Disease Diagnostics with ONT and Asuragen in the UAE

Ahmad Abou Tayoun from the Al Jalila Children’s Specialty Hospital in the United Arab Emirates, presented at London Calling 2023 a session entitled “Nanopore sequencing as a potential diagnostic tool for genetic diseases in the Middle East.” They noted that “rare diseases are individually rare but are collectively common…” There are globally ~6,000 rare diseases […]
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Characterization of Transgenic Constructs through Long-read Sequencing

Jolien D’aes from Sciensano, Belgium presented at the Nanopore Community Meeting 2021 on “Characterization of genetically modified microorganisms is facilitated by long-read whole-genome sequencing.” They explained that Sciensano is the Belgian science institute for food and animal safety. They monitor GMO-derived fermentation products. They may contain antimicrobial genes as resistance markers. Regulation prohibits the presence […]
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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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Sniffles2 and Structural Variations

Tonight I watched Fritz Sedlazeck from The Baylor College of Medicine Human Genome Sequencing Center present at the Nanopore Community Meeting 2022 on “Rapid structural variant calling across AllOfUs using Oxford Nanopore sequencing.” Sedlazeck spoke about structural variations (SV) that are 50bp+ genomic alterations. Long read sequencing SV calling improves detection. Sedlazeck and team created […]
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