Characterisation of an intergenic EPCAM-MSH2 deletion using long-read sequencing

This project investigates a novel intergenic structural variant between the EPCAM and MSH2 genes identified in a family with a clinical history consistent with Lynch-syndrome. Long-read sequencing using Oxford Nanopore Technologies (ONT) was applied to resolve variant breakpoints and methylation patterns.ONT data was aligned to GrCh48. Sequencing data are restricted to the EPCAM-MSH2 locus in accordance with institutional ethics approval for gene-specific analysis.