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

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-07-01 DOI:10.1097/fm9.0000000000000238

Chunxiang Zhou, Huijun Li, Yiyan Shi, Linlin He, H. Duan, Jie Li

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Abstract

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. 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. 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. 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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利用高分辨率光学基因组图谱检测 8p23.1 反转

目的：利用 GRCh38 和端粒到端粒（T2T）基因组参考文献，评估光学基因组图谱（OGM）在识别位于 8 号染色体短臂（8p，8p23.1）、两侧为复杂节段重复（SD）区域的倒位时的性能。我们对一对疑似携带 8p23.1 反转的夫妇进行了调查，原因是在他们的流产中发现了末端缺失和 8p 间期重复。我们对这两个人进行了 OGM。数据分别映射到当前的 GRCh38 和更新的 T2T 基因组参考文献。在将 OGM 数据映射到 T2T 集合时，在雌性个体中观察到了 8p23.1 反转。相比之下，在 GRCh38 参考文献中，无法区分 SD 区域内疑似断裂点之间的方向。在这两个个体中还发现了其他意义不确定的变异。我们的研究结果凸显了 T2T 参考文献在识别涉及 SD 区域的结构变异方面的优越性。使用 T2T 参考文献增强 SV 检测可能有助于更好地了解基因组不稳定性和人类疾病。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.