Article

Tissue-Specific Dynamics of <i>TCF4</i> Triplet Repeat Instability Revealed by Optical Genome Mapping

2024-03-30

Abstract excerpt

Here, we demonstrate the utility of optical genome mapping (OGM) to interrogate the Fuchs endothelial corneal dystrophy (FECD)-associated intronic TCF4 triplet repeat (termed CTG18.1) and gain novel insights into the tissue-specific nature of the disease. Genomic DNA (gDNA) samples derived from peripheral blood leukocytes and primary corneal endothelial cells (CECs) were analysed by OGM. Concurrently, all samples...

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Literature Corpus work: 4dbda8d6-8e7b-5ac7-aa31-814f8cb3bb14
DOI: 10.1101/2024.03.27.587034

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