Detection of an 8p23.1 Inversion Using High-Resolution Optical Genome Mapping  

作　　者：Chunxiang Zhou Huijun Li Yiyan Shi Linlin He Honglei Duan Jie Li 

机构地区：[1]Obstetrics and Gynecology Medical Center,Nanjing Drum Tower Hospital,Affiliated Hospital of Nanjing Medical University,Nanjing 210008,China

出　　处：《Maternal-Fetal Medicine》2024年第3期173-177,共5页母胎医学杂志（英文）

基　　金：supported by funding for Clinical Trials from the Affiliated Drum Tower Hospital,Medical School of Nanjing University(2022-LCYJ-MS-06).

摘　　要：Objective:To evaluate the performance of optical genomemapping(OGM)in identifying an inversion located in the short armof 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.

关 键 词：Genome mapping Telomere-to-Telomere reference Segmental duplication 8p23.1 inversion 

分 类 号：R714.55[医药卫生—妇产科学]