Optical genome mappingKovanda, Anja (Avtor) Peterlin, Borut (Avtor) duplicationinsertioninversionoptical genome mappingstructural genomic variantstranslocationOptical genome mapping (OGM) is a novel method based on image acquisition of single, enzyme labelled, high-molecular-weight DNA molecules, that enables the detection of structural variants (SV). This includes copy neutral SV such as inversions, insertions and balanced translocations in size ranges that typically represent a challenge for sequence, array or PCR based methods, making the method applicative in the field of haematological and constitutional genetic testing alike. In constitutional setting, OGM is particularly useful for facioscapulohumeral dystrophy testing, validation of suspected variants from other technologies, as well as testing of rare-disease patients with previously negative genetic testing results.20262026-09-03 13:39:28Neznano32268slNa spletni strani revije navedeno: Licence and rights statement: Medicina Fluminensis is an Open Access journal. The content of the Journal is available free of charge. Users are allowed to read, download, copy, redistribute, print, search and link to material, and alter, transform, or build upon the material, or use them for any other lawful purpose as long as they attribute the source in an appropriate manner according to the CC BY licence. (https://hrcak.srce.hr/en/medicina, 3. 9. 2026)