copy number variation

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Understanding Copy Number Variations in Intraoperative Brain Tumor Detection

Chun-Chieh Lin from Dartmouth Health spoke at the Nanopore Community Meeting in Boston on “Nanopore-based random genomic sampling for intraoperative diagnosis of brain tumors and beyond.” They focused on copy number and methylation alterations. Lin explained that copy number variation (CNV) is a common variant. Current approaches are karyotyping and comparative genomic hybridization, targeted with […]
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Barcode-aware Sequencing

Alexander Payne from the University of Nottingham in the UK presented at the 2021 Nanopore Community Meeting about “Barcode-specific adaptive sampling – from human gene panels to viral amplicons.” They spoke about ReadFish or “Read Until” which is an adaptive sampling toolkit. They ran an experiment with four different species to test adaptive sampling for […]
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Fragment and Re-ligate for Copy Number Variation Analyses

Thidathip Wongsurawat from Mahidol University in Thailand spoke at the Nanopore Community Meeting 2021 about “Nanopore-based copy number variation approach for adult glioma classification – WHO 2021.” They spoke about glioma, a type of brain tumor that grows in glial cells, and its high mortality. In 2021, WHO incorporated genotype information along with phenotype in […]
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