Cas9-mediated nanopore sequencing enables precise characterization of structural variants in ccm genes

HIGHLIGHTS

  • who: Dariush Skowronek et al. from the Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and, University of Greifswald, Greifswald, Germany have published the paper: Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes, in the Journal: (JOURNAL)
  • what: The authors show that nanopore sequencing in combination with Cas9-mediated target selection can serve as an excellent complement to diagnostic short-read sequencing of the CCM genes. The authors demonstrate that even complex SVs can be reliably detected with targeted nanopore sequencing. The authors demonstrate that the . . .

     

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