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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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2025-03-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2024-0021 |
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