Pregledni rad
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
* Dopisni autor.
Sažetak
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.
Ključne riječi
duplication; insertion; inversion; optical genome mapping; structural genomic variants; translocation
Hrčak ID:
349271
URI
Datum izdavanja:
1.9.2026.
Posjeta: 0 *