Landesamt für Natur, Umwelt und Klima Nordrhein-Westfalen

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders

Abstract Optical Genome Mapping (OGM) offers superior resolution compared to standard diagnostic methods such as karyotyping and FISH, enabling the detection of nearly all types of chromosomal aberrations with non-centromeric breakpoints. This study evaluated OGM’s potential to e...