Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes.

ABSTRACT: Deletions in the CCM1, CCM2, and CCM3 genes are a common cause of familial cerebral cavernous malformations (CCMs). In current molecular genetic laboratories, targeted next-generation sequencing or multiplex ligation-dependent probe amplification are mostly used to identify copy number variants (CNVs). However, both techniques are limited in their ability to specify the breakpoints of CNVs and identify complex structural variants (SVs). To overcome these constraints, we established a targeted Cas9-mediated nanopore sequencing approach for CNV detection with single nucleotide resolution. Using a MinION device, we achieved complete coverage for the CCM genes and determined the exact size of CNVs in positive controls. Long-read sequencing for a CCM1 and CCM2 CNV revealed that the adjacent ANK

SUBMITTER: Skowronek D 

PROVIDER: S-EPMC9779250 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature