The study evaluates the effectiveness of optical genome mapping (OGM) in identifying chromosomal structural abnormalities like ring chromosomes and translocations in patients undergoing genetic testing.
Four patients' clinical data were analyzed, and OGM was compared with techniques like chromosomal microarray analysis and fluorescence in situ hybridization.
OGM successfully detected certain chromosomal abnormalities and provided detailed breakpoint mapping, although it was not able to identify all abnormalities in some cases, suggesting it has both strengths and limitations in clinical diagnostics.