Review article

https://doi.org/10.21860/medflum2026_349271

Optical Genome Mapping: A New Approach in Laboratory and Clinical Genetics

Anja Kovanda ; University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia; University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia *
Borut Peterlin ; University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia; University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

* Corresponding author.

Abstract

Optical 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.

Keywords

duplication; insertion; inversion; optical genome mapping; structural genomic variants; translocation

Hrčak ID:

349271

URI

https://hrcak.srce.hr/349271

Publication date:

1.9.2026.

Article data in other languages: croatian

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