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. 2024 Sep 14;108:105328. doi: 10.1016/j.ebiom.2024.105328

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© 2024 The Author(s)

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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Fig. 3 — Analysis of bi-allelic CTG18.1 corneal endothelial cells (CECs) indicates that molecules near the detection threshold of optical genome mapping (OGM) represent non-expanded alleles. CEC-derived gDNA samples from three unrelated FECD cases were analysed by OGM. Based on STR-analysis of leukocyte-derived DNA, we classified cases as CTG18.1 (A) expansion-negative (CEC-Ctr1), (B) mono-allelic expanded (CEC-9) or (C) bi-allelic expanded. Baseline STR genotyping results are shown in brackets for each respective allele. Red arrows depict the bin with most molecules detected >2000 bp threshold, exclusively observed in mono- (CEC-9; B) and bi-allelic (CEC-10; C) expanded CTG18.1 samples.