颜林林 (2023-06-24 21:59):
#paper doi:10.1093/nar/gkad526 Nucleic Acids Research, 2023, Precise characterization of somatic complex structural variations from tumor/control paired long-read sequencing data with nanomonsv. 这是一篇生信文章,作者开发了一个工具nanomonsv,基于配对的肿瘤和对照样本的三代测序数据,鉴定构变异(SV)。该程序包括两个模块:Canonical SV module 和 Single breakend SV module,前者采取寻找跨越断点的多条支持reads的策略,后者则先对断点单侧的序列进行合并,再通过soft clip部分去寻找(可能在基因组上缺失或难以判定)的另一侧序列。通过对这两种策略的实现、优化和整合,提高了对SV的鉴定性能。本文在三个肿瘤细胞系样本(及其对应对照样本)的三代数据上,对所开发的工具进行了实测和评估,并使用PCR方法对部分结果进行了验证。此外,本文还对甲基化、重复序列、移动元件、病毒序列整合等序列特性进行了分析,以进一步充实文章的内容。
IF:16.600Q1 Nucleic acids research, 2023-08-11. DOI: 10.1093/nar/gkad526 PMID: 37336583
Precise characterization of somatic complex structural variations from tumor/control paired long-read sequencing data with nanomonsv
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Abstract:
We present our novel software, nanomonsv, for detecting somatic structural variations (SVs) using tumor and matched control long-read sequencing data with a single-base resolution. The current version of nanomonsv includes two detection modules, Canonical SV module, and Single breakend SV module. Using tumor/control paired long-read sequencing data from three cancer and their matched lymphoblastoid lines, we demonstrate that Canonical SV module can identify somatic SVs that can be captured by short-read technologies with higher precision and recall than existing methods. In addition, we have developed a workflow to classify mobile element insertions while elucidating their in-depth properties, such as 5' truncations, internal inversions, as well as source sites for 3' transductions. Furthermore, Single breakend SV module enables the detection of complex SVs that can only be identified by long-reads, such as SVs involving highly-repetitive centromeric sequences, and LINE1- and virus-mediated rearrangements. In summary, our approaches applied to cancer long-read sequencing data can reveal various features of somatic SVs and will lead to a better understanding of mutational processes and functional consequences of somatic SVs.
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