Precision Approaches in Clinical Cytogenomics: The Role of Optical Genome Mapping and Long-Read Sequencing in Structural Variant Detection

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F25%3A00141541" target="_blank" >RIV/00216224:14310/25:00141541 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Precision Approaches in Clinical Cytogenomics: The Role of Optical Genome Mapping and Long-Read Sequencing in Structural Variant Detection

Original language description

Structural variation (SV) in the genome is one of the major causes of human genetic diseases. Its detection in clinical practice is still based on traditional methods of classical and molecular cytogenetics, which often fail to accurately determine breakpoints in translocations, inversions and the detection of complex cytogenetic rearrangements. In recent years, however, new technologies based on the analysis of long DNA molecules have emerged that could overcome these limitations. In this study, we focused on comparing optical genome mapping (OGM) and long-read whole genome sequencing (LR-WGS, Oxford Nanopore Technologies) for the detection of SV in patients with neurodevelopmental disorders (NDDs). The main aim was to assess the efficiency, accuracy and practical applicability of both methods in clinical practice and to compare their results with previous cytogenetic analyses. The diagnostic potential of these methods was tested in five patients with NDDs who had complex or unresolved cytogenetic findings. Both methods were able to detect all previously reported genetic alterations. OGM proved to be more effective for initial screening due to a lower number of variants detected and clearer visualisation of the results. LR-WGS was more accurate in determining the exact breakpoint locations and detailed characterisation of genes involved in rearrangements, but it generated a massive amount of data, making analysis and interpretation more difficult. Our results suggest that a combination of OGM for rapid screening and LR-WGS for detailed SV analysis may be an optimal diagnostic approach. However, further development of analytical tools is needed for more efficient processing and interpretation of LR-WGS data.

Czech name

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Czech description

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Type

O - Miscellaneous

CEP classification

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OECD FORD branch

10600 - Biological sciences

Project

<a href="/en/project/EH23_020%2F0008555" target="_blank" >EH23_020/0008555: Applicability of Comprehensive Genomic Testing - towards better diagnostics</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2025

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů