ArticleMaternal-fetal medicine (Wolters Kluwer Health, Inc.)2024
Detection of an 8p23.1 Inversion Using High-Resolution Optical Genome Mapping.
Article in Maternal-fetal medicine (Wolters Kluwer Health, Inc.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- [Application of optical genome mapping technology in the genetic diagnosis of a family with a cryptic complex chromosomal balanced translocations].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Article
- Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series.European journal of medical research · 2026Article
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6 authors.
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Abstract
Objective: To evaluate the performance of optical genome mapping (OGM) in identifying an inversion located in the short arm of chromosome 8 (8p, 8p23.1), flanked by regions of complex segmental duplication (SD), using the GRCh38 and telomere-to-telomere (T2T) genome references. Methods: We investigated a couple suspected of carrying the 8p23.1 inversion due to a terminal deletion combined with an interstitial duplication of 8p found in their abortus. OGM was performed on both individuals. The data were mapped to the current GRCh38 and the updated T2T genome references, respectively. Results: The 8p23.1 inversion was observed in the female when mapping OGM data to the T2T assembly. In contrast, under the GRCh38 reference, the orientation between the suspected breakpoints within the SD regions could not be distinguished. Additional variants of uncertain significance were also identified in both individuals. Conclusion: Our findings highlight the superiority of the T2T reference in recognizing structural variations involving SD regions. The enhanced SV detection using the T2T reference may contribute to a better understanding of genome instability and human diseases.
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