Publication details
Comparative Evaluation of CNVs Detection: A Case Study of Optical Genome Mapping and Long-Read Whole-Genome Sequencing versus Chromosomal Microarray
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| Year of publication | 2025 |
| Type | Conference abstract |
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| Citation | |
| Description | The contribution of copy number variations (CNVs) to the pathogenesis of various diseases has been increasingly recognized. Chromosomal microarray (CMA) remains the gold standard for genome-wide CNVs analysis. However, emerging cytogenomic techniques, such as optical genome mapping (OGM) and long-read whole-genome sequencing (LR-WGS), offer the potential to not only detect structural variations but also to provide more detailed insights into CNVs. In this study, we compared and evaluated the CNV profiles obtained using CMA (Agilent), OGM (Bionano), and LR-WGS (Oxford Nanopore Technologies) in a patient with neurodevelopmental symptoms and negative classical cytogenetic results. Our primary aim was to assess the success and accuracy of CNVs detection by OGM and LR-WGS, relative to the CMA method, which is firmly established in clinical diagnostics. The CMA analysis identified a duplication and a deletion of chromosome 12, both of which were also detected by OGM and LR-WGS. Notably, LR-WGS provided a more detailed and comprehensive view of the affected regions, offering refined coordinates of the CNVs and a deeper examination of the associated genes. This case report suggests that OGM and LR-WGS hold significant potential for CNV detection in clinical practice. However, it is crucial to understand the limitations of these methods and integrate them carefully into diagnostic algorithms for optimal clinical utility. |