mutations

Revisiting and Validating Structural Variants

My Linh Thibodeau from the University of British Columbia in Canada presented at London Calling 2019 on “Resolution of germline hereditary cancer structural variants using nanopore sequencing.” They began talking about the Personalized OncoGenomics Program (POG), which is an initiative of BC Cancer. The study enrolls participants and conducts extensive genomic analyses. The team evaluated […]
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Identification of Mutations in Cell Lines

Yukata Suzuki from The University of Tokyo in Japan presented at London Calling 2019 on “Identification of a new class of local copy number aberrations in lung cancer genomes using PromethION.” I thought this was timely since today, in class, we started sequencing redbud samples using a PromethION flow cell. Suzuki spoke about starting PromethION […]
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Mitochondrial Genome Sequencing Reveals Variants

“Single-cell full-length nanopore sequencing for quantitative variant analysis of native and genome-edited mitochondria” is the title of the London Calling 2023 lightning talk I watched tonight. The presenter was Mo Li from King Abdullah University of Science and Technology (KAUST) in Saudi Arabia. Li spoke about the human mitochondrial genome (mtDNA) and the challenges in […]
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Sequencing Alleles Involved in Undiagnosed Inherited Neuropathies

Marina Kennerson from The ANZAC Research Institute in Australia spoke at London Calling 2023 about “Solving genetically undiagnosed inherited neuropathy families: long-read sequencing to the rescue.” Inherited peripheral neuropathies (IPN), Kennerson explained, can be divided into hereditary motor neuropathies (HMN), hereditary sensory neuropathies (HSN), and hereditary motor and sensory neuropathies (HMSN). Kennerson noted that HMSN […]
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CyclomicsSeq

jeroen de Ridder from Cyclomics and the University Medical Center Utrecht in the Netherlands presented “CyclomicsSeq: targeted and genome-wide detection of circulating tumor DNA using nanopore consensus sequencing” at London Calling 2022. They spoke about monitoring of treatment response and disease recurrence and avoiding invasive procedures. For this, they focused on cell-free tumor DNA: cfDNA […]
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