methylation

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CariGenetics: Innovating Genomic Sequencing with PromethION in Bermuda

Tonight, I watched the London Calling 2024 product demo. The title of the session was “From sample to insight: exploring human genomics with PromethION end-to-end sequencing solutions.” Rachel Rubinstein, a Technical Product Manager with ONT, was the moderator. They explained that with a single PromethION flow cell, you can obtain 100-200 Gbases of data and […]
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Unraveling FSHD with Nanopore Sequencing

Morghan Lucas from the Medical Genetics Center in Germany presented at London Calling 2024 on “Genetic and epigenetic profiling of FSHD by nanopore sequencing.” Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disease affecting the muscles of the face, shoulders, and upper/lower limbs, Lucas explained. It is the third most common muscular dystrophy: 1:20,000. The […]
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Rady Children’s Institute: Discoveries in Genomic Methylation

Sergey Batalov from the Rady Children’s Institute for Genomic Medicine in the US presented at London Calling 2024 on “Patterns in genomic methylation determined with long-read sequencing.” Rady Children’s Institute is the only level four NICU in San Diego, Riverside, and Imperial counties. The Rady Children’s Hospital provides care to 256,000 kids/year! However, only 35% […]
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Population Genomics and Gene Expression in Bullhead Benthic Fish Melanoma

Tonight, I watched the London Calling 2024 session by Julie Dragon from the University of Vermont. The title was “Shining Light on a Dark Mystery: melanoma in Bullhead Benthic Fish in Lake Memphremagog.” Dragon stated the problem: melanoma is found consistently in 30% of one species of fish in one lake! The brown bullhead is […]
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Genome Science in High-School Classrooms: Inflammation, Glutamate, and Methylation – Iolani School Study

I had heard about the work from the Iolani School during one of the Nanopore Education Beta group meetings. Tonight, I watched Ethan C. Hill, a bioinformatician with the Iolani School, and Jaymie M. Frith, a 12th-year student, present at London Calling 2024. Their session was titled “Genome science in high-school classrooms: inflammation, glutamate and […]
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Clinically Actionable Findings and Long-Read Sequencing in POG Patients

Janessa Laskin from the BC Cancer Centre and The University of British Columbia in Canada spoke at London Calling 2024 on the “Application and use of long-read sequencing in personalized cancer medicine.” Laskin explained that medical oncologists are motivated to find effective treatments for cancer and identify vulnerabilities. The Personalized OncoGenomics (POG) started in 2012 […]
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Maximize Nanopore Basecalling with Dorado: Latest Updates and Features

I want to learn how to fully utilize Dorado base calling features. Tonight, I watched Susie Lee, Technical Product Manager for Basecalling and Models at Oxford Nanopore Technologies, present the latest updates to Dorado at London Calling 2024. They explained Dorado as a software tool that “powers Nanopore basecalling and more” by taking raw signal […]
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Methylomics and Fragmentomics: Pioneering Cancer Detection Models

Hanlee Ji from Stanford University presented at London Calling 2024 on “Genomic sequencing for characterizing tumor minimal residual disease versus early cancer.” Ji spoke about apoptosis and circulating tumor DNA. Ji and the team evaluated the recurrence of metastatic colorectal cancer with circulating DNA monitoring. Early detection of breast cancer can benefit from nanopore sequencing […]
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Long-Read Sequencing Reveals Diverse Intergenerational Epigenetic Patterns in Mice

The IPERT workshops finished today. I am tired and ready for rest. Tonight, I watched the London Calling 2024 session “Long-read sequencing reveals diverse patterns of epigenetic inheritance in mice.” Adam Davidovich, a Ph.D. student at Johns Hopkins, presented their work. They worked on studying intergenerational epigenetic patterns using a mouse model. The work involved […]
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