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

9 Dec 2022

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36555281
DOI: 10.3390/ijms232415639

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