CORDIS Project
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This project investigates the role of structural variants in the genetic basis of Charcot-Marie-Tooth disease, a common peripheral nerve disorder. Using advanced sequencing techniques, it aims to uncover previously overlooked genetic mechanisms contributing to the disease.
Many Mendelian diseases have benefited from next-generation sequencing (NGS) technologies for gene discovery and the establishment of molecular diagnosis.
However, the technical limitations of NGS pose a challenge for identifying mutational mechanisms in genomic regions impenetrable by these technologies. I hypothesize that complex genomic rearrangements called structural variants in these loci can explain a significant proportion of missing heritability in many monogenic diseases.
To this end,…
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