Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies

IF 4.3 3区材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC

ACS Applied Electronic Materials Pub Date : 2024-07-15 DOI:10.1016/j.ygeno.2024.110894

Sachiko Ohori , Hironao Numabe , Satomi Mitsuhashi , Naomi Tsuchida , Yuri Uchiyama , Eriko Koshimizu , Kohei Hamanaka , Kazuharu Misawa , Satoko Miyatake , Takeshi Mizuguchi , Atsushi Fujita , Naomichi Matsumoto

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引用次数: 0

Abstract

Technologies for detecting structural variation (SV) have advanced with the advent of long-read sequencing, which enables the validation of SV at a nucleotide level. Optical genome mapping (OGM), a technology based on physical mapping, can also provide comprehensive SVs analysis. We applied long-read whole genome sequencing (LRWGS) to accurately reconstruct breakpoint (BP) segments in a patient with complex chromosome 6q rearrangements that remained elusive by conventional karyotyping. Although all BPs were precisely identified by LRWGS, there were two possible ways to construct the BP segments in terms of their orders and orientations. Thus, we also used OGM analysis. Notably, OGM recognized entire inversions exceeding 500 kb in size, which LRWGS could not characterize. Consequently, here we successfully unveil the full genomic structure of this complex chromosomal 6q rearrangement and cryptic SVs through combined long-molecule genomic analyses, showcasing how LRWGS and OGM can complement each other in SV analysis.

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长分子基因组学联合技术揭示了复杂的染色体 6q 重排。

随着长线程测序技术的出现，结构变异（SV）的检测技术取得了进步，可以在核苷酸水平上对 SV 进行验证。基于物理图谱的光学基因组图谱（OGM）技术也能提供全面的 SVs 分析。我们应用长线程全基因组测序技术（LRWGS）准确地重建了一名患者的断点（BP）片段，该患者的6q染色体重排情况复杂，传统核型分析仍难以发现。虽然 LRWGS 精确鉴定出了所有 BP，但从 BP 的顺序和方向来看，有两种可能的方法来构建 BP 片段。因此，我们也使用了 OGM 分析。值得注意的是，OGM 识别出了大小超过 500 kb 的整个倒位，而 LRWGS 却无法表征这些倒位。因此，我们通过联合长分子基因组分析，成功地揭示了这一复杂的染色体 6q 重排和隐性 SV 的完整基因组结构，展示了 LRWGS 和 OGM 在 SV 分析中的互补作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ACS Applied Electronic Materials Multiple-

CiteScore

7.20

自引率

4.30%

发文量

567