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Improving Genetic Testing through 1000 Genomes Project

Danny E. Miller from the University of Washington presented at the Nanopore Community Meeting in Singapore on “The 1000 Genomes Project Oxford Nanopore Sequencing Consortium: expanding our understanding of human genetic variation.” They started by comparing the medical history and testing performed on two patients. Miller shared a linear workflow for traditional genetic workup. Miller’s […]
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Structural Variant Detection and Analysis

Continuing with the Nanopore Learning course on Human Genome Sequencing and Analysis, tonight I watched the video about structural variation detection. Anthony Doran, a member of the Technical Services Team with Oxford Nanopore Technologies, defined structural variation as large structural changes in your sample compared to the reference genome. The examples Doran shared on a […]
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