CORDIS Project
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This project uses single molecule optical detection to analyze structural variations in DNA linked to Facioscapulohumeral muscular dystrophy. By labeling specific sequences and imaging them, researchers aim to develop a diagnostic tool to differentiate pathogenic from non-pathogenic chromosomes.
This proposal seeks to utilize single molecule optical detection to directly visualize and analyze genome structural and copy number variation (SVs & CNVs) spanning up to hundreds kb of native chromosomal DNA .
The project focuses on a pathogenic macro satellite repeat in the subtelomere of chromosome 4q that is linked to the third most common inherited muscular dystrophy, Facioscapulohumeral muscular dystrophy (FSHD).
Specific sequences on subtelomeres are labeled with fluorescent molecules vi…
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