Author:
Hu Taobo,Li Jingjing,Long Mengping,Wu Jinbo,Zhang Zhen,Xie Fei,Zhao Jin,Yang Houpu,Song Qianqian,Lian Sheng,Shi Jiandong,Guo Xueyu,Yuan Daoli,Lang Dandan,Yu Guoliang,Liang Baosheng,Zhou Xiaohua,Ishibashi Toyotaka,Fan Xiaodan,Yu Weichuan,Wang Depeng,Wang Yang,Peng I-Feng,Wang Shu
Abstract
Background: Structural variations (SVs) are common genetic alterations in the human genome that could cause different phenotypes and diseases, including cancer. However, the detection of structural variations using the second-generation sequencing was limited by its short read length, which restrained our understanding of structural variations.Methods: In this study, we developed a 28-gene panel for long-read sequencing and employed it to Oxford Nanopore Technologies and Pacific Biosciences platforms. We analyzed structural variations in the 28 breast cancer-related genes through long-read genomic and transcriptomic sequencing of tumor, para-tumor, and blood samples in 19 breast cancer patients.Results: Our results showed that some somatic SVs were recurring among the selected genes, though the majority of them occurred in the non-exonic region. We found evidence supporting the existence of hotspot regions for SVs, which extended our previous understanding that they exist only for single nucleotide variations.Conclusion: In conclusion, we employed long-read genomic and transcriptomic sequencing to identify SVs from breast cancer patients and proved that this approach holds great potential in clinical application.
Subject
Cell Biology,Developmental Biology
Cited by
6 articles.
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