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

Optical genome mapping (OGM) is a novel method enabling the detection of structural genomic variants. The method is based on the laser image acquisition of single, labeled, high-molecular-weight DNA molecules and can detect structural genomic variants such as translocations, inversions, insertions,...

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Autors principals:	Kovanda A, Miljanović O, Lovrečić L, Maver A, Hodžić A, Peterlin B
Format:	Artigo
Idioma:	Inglês
Publicat:	Sciendo 2025-03-01
Col·lecció:	Balkan Journal of Medical Genetics
Matèries:	optical genome mapping ogm structural variants (sv) genomic variants rare disease genetic testing
Accés en línia:	https://doi.org/10.2478/bjmg-2024-0021
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