Day: March 7, 2023

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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