岭南现代临床外科2025，Vol.25Issue(3)：184-189,6.DOI:10.3969/j.issn.1009-976X.2025.03.007
多项目混合基因测序提升肿瘤诊疗时效性的可行性探讨
Study on the feasibility of improving the timeliness of diagnosis and treatment of tumors through multi-project and multi-sample hybrid gene sequencing technology
摘要
Abstract
Objective To conduct a retrospective analysis of multi-project and multi-sample sequencing in tumor samples,and to explore the feasibility of improving the timeliness of clinical tumor diagnosis and treatment.Methods This study mainly verified the feasibility of improving the timeliness of tumor diagnosis and treatment through multi-project mixed gene sequencing by analyzing the sequencing quality control data and detection results when WES libraries and tumor gene sequencing libraries were sequenced on the NovaSeq 6000dx sequencing platform.Results In 24 batches of pooled sequencing,the average cluster pass rate was 77.92%,the average expected data output was 633.22 Gb,and the average Q30 was 91.33%,all of which met the quality control standards.For the 753 whole exome sequencing(WES)libraries and 164 tumor multi-gene sequencing libraries,the individual sample data volume,average sequencing depth,and the proportion of sequencing depth>20×all met the quality control standards.No statistically significant differences were found in the detection results of the same sample in different batches of hybrid sequencing(P=0.125).The turnaround time for clinical gene test reports was signifi-cantly shortened after adopting hybrid gene sequencing,mainly characterized by a reduced sequencing frequency.Conclusion Multi-project and multi-sample libraries can be sequenced using hybrid sequenc-ing to improve the timeliness of gene testing reports in tumor diagnosis and treatment.关键词
混合上机测序/基因检测/肿瘤治疗Key words
hybrid gene sequencing/gene testing/cancer therapy分类
医药卫生引用本文复制引用
黄靖华,骆嘉欢,孙熹,萧晓琴,蒋圆玲,黄永胜,廖健伟..多项目混合基因测序提升肿瘤诊疗时效性的可行性探讨[J].岭南现代临床外科,2025,25(3):184-189,6.基金项目
广州市科技计划项目资助(2023A04J2103),广东省基础与应用基础研究基金(2021A1515111138) （2023A04J2103）
