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,...

Full description

Saved in:
Bibliographic Details
Main Authors: Kovanda A, Miljanović O, Lovrečić L, Maver A, Hodžić A, Peterlin B
Format: Article
Language:English
Published: Sciendo 2025-03-01
Series:Balkan Journal of Medical Genetics
Subjects:
Online Access:https://doi.org/10.2478/bjmg-2024-0021
Tags: Add Tag
No Tags, Be the first to tag this record!