Multiplatform discovery and regulatory function analysis of structural variations in non-small cell lung carcinoma.
Multiplatform discovery and regulatory function analysis of structural variations in non-small cell lung carcinoma.
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DOI：
10.1016/j.celrep.2021.109660
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发表时间：
2021-09
期刊：
影响因子：
8.8
通讯作者：
L. Xia;Zhoufeng Wang;Xinyue Wu;Tianfu Zeng;Wenxin Luo;Xinlei Hu;Yinyun Ni;G. Che;Lunxu Liu;Wei Zhang;D. Xie;Weimin Li
中科院分区：
文献类型：
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作者：
L. Xia;Zhoufeng Wang;Xinyue Wu;Tianfu Zeng;Wenxin Luo;Xinlei Hu;Yinyun Ni;G. Che;Lunxu Liu;Wei Zhang;D. Xie;Weimin Li
非小细胞肺癌（NSCLC）是最常见的肺癌形式，是全球癌症相关死亡的主要原因。我们对43例原发性NSCLC患者和匹配的正常样本进行了全基因组测序（WGS），并分析了他们匹配的开放染色质数据和转录组数据。我们的研究结果表明，在结构变异检测方面，下一代测序（NGS）和Bionano Genomics （BNG）平台应被视为互补技术。通过创建一个整合这两个平台的框架，我们检测了NSCLC病例中的高技术置信度体细胞结构变异（SVs），这有助于有效研究新的候选癌基因，如TRIO和SESTD1。我们的研究结果强调了体细胞SVs对NSCLC肿瘤发生的影响，为探索NSCLC患者体内体细胞SVs、基因表达和调控网络之间的关系奠定了基础。
Non-small cell lung carcinoma (NSCLC), the most common form of lung cancer, is the leading cause of cancer-related death worldwide. We perform whole-genome sequencing (WGS) on samples from 43 primary patients with NSCLC and matched normal samples and analyze their matched open chromatin data and transcriptome data. Our results indicate that next-generation sequencing (NGS) and the Bionano Genomics (BNG) platform should be viewed as complementary technologies in terms of structural variations detection. By creating a framework integrating these two platforms, we detect high-technical-confidence somatic structural variations (SVs) in NSCLC cases, which could aid in the efficient investigation of new candidate oncogenes, such as TRIO and SESTD1. Our findings highlight the impact of somatic SVs on NSCLC oncogenesis and lay a foundation for exploring associations among somatic SVs, gene expression, and regulatory networks in patients with NSCLC.