| Title: | Optical genome mapping : a new approach in laboratory and clinical genetics |
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| Authors: | ID Kovanda, Anja (Author)
ID Peterlin, Borut (Author) |
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| Files: |  PDF - Presentation file, download (2,10 MB)
MD5: 7586B037944790D52CB7950F17AB745F
 URL - Source URL, visit https://hrcak.srce.hr/en/349271
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| Language: | English |
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| Typology: | 1.02 - Review Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | 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. |
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| Keywords: | duplication, insertion, inversion, optical genome mapping, structural genomic variants, translocation |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2026 |
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| Number of pages: | str. 53-58 |
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| Numbering: | Vol. 62, Suppl. 1 |
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| PID: | 20.500.12556/DiRROS-32268  |
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| UDC: | 61:575 |
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| ISSN on article: | 1848-820X |
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| DOI: | 10.21860/medflum2026_349271 |
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| COBISS.SI-ID: | 289929731 |
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| Copyright: | Na spletni strani revije navedeno: Licence and rights statement: Medicina Fluminensis is an Open Access journal. The content of the Journal is available free of charge. Users are allowed to read, download, copy, redistribute, print, search and link to material, and alter, transform, or build upon the material, or use them for any other lawful purpose as long as they attribute the source in an appropriate manner according to the CC BY licence. (https://hrcak.srce.hr/en/medicina, 3. 9. 2026) |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 3. 9. 2026;
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| Pub. date in DiRROS: | 03.09.2026 |
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| Views: | 118 |
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| Downloads: | 52 |
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