Informace o publikaci
Analyzing single-chromosome CNV complexity using Optical Genome Mapping in patients with neurodevelopmental disorders
| Autoři | |
|---|---|
| Rok publikování | 2026 |
| Druh | Konferenční abstrakty |
| Citace | |
| Popis | Background: Copy number variations (CNVs) represent a major class of genomic alterations; however, patients carrying multiple CNVs confined to a single chromosome pose a particular interpretative challenge. Standard cytogenetic and array-based methods detect CNVs but provide limited insight into their structural relationships, genomic context and potential shared origin. Material and Methods: We selected four patients with multiple genomic alterations, predominantly CNVs, affecting a single chromosome and previously identified by routine diagnostic approaches. Optical Genome Mapping (OGM) was used to reconstruct chromosome-level genomic architecture, enabling detailed assessment of structural organization and relationships between detected variants. Results: OGM enabled comprehensive characterization of all CNVs within the affected chromosomes, including precise localization, copy state, orientation and structural configuration. Multiple CNVs initially interpreted as independent events were revealed to be structurally linked and part of more complex rearrangements. OGM allowed reliable discrimination between tandem and insertional duplications and clarified their positional context within the chromosome. In addition, previously undetected structural variants, such as inversions, were identified, providing insight into the underlying genomic architecture and potential mechanisms of CNV formation. Conclusion: In patients with multiple CNVs restricted to a single chromosome, OGM reveals higher-order structural relationships that remain unresolved by standard diagnostic methods. This approach significantly improves characterization of duplication types, positional context and chromosomal complexity, supporting more accurate interpretation of structural variation in clinical genetics. |
| Související projekty: |