Have a personal or library account? Click to login
Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report Cover

Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report

Balkan Journal of Medical Genetics
Volume 27 (2024): Issue 2 (December 2024)
By: A Kovanda,  O Miljanović,  L Lovrečić,  A Maver,  A Hodžić and  B Peterlin  
Open Access
|Mar 2025

Authors

A Kovanda

Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

O Miljanović

Center for Medical Genetic and Immunology, Clinical Center of Montenegro, Podgorica, Montenegro

L Lovrečić

Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

A Maver

Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

A Hodžić

Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

B Peterlin

borut.peterlin@kclj.si

Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
DOI: https://doi.org/10.2478/bjmg-2024-0021 | Journal eISSN: 2199-5761
Journal RSS Feed
Language: English
Page range: 87 - 93
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Optical genome mapping,
OGM,
structural variants (SV),
genomic variants,
rare disease genetic testing
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2025 A Kovanda, O Miljanović, L Lovrečić, A Maver, A Hodžić, B Peterlin, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Previous articleVolume 27 (2024): Issue 2 (December 2024)Next article