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混合文库测序数据量优化提升肿瘤外科基因检测效能的临床应用与验证

骆嘉欢 黄靖华 蒋圆玲 黄永胜 尹欣科 付莎 欧阳能太 廖健伟

岭南现代临床外科2026,Vol.26Issue(1):27-32,6.
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岭南现代临床外科2026,Vol.26Issue(1):27-32,6.DOI:10.3969/j.issn.1009-976X.2026.01.004

混合文库测序数据量优化提升肿瘤外科基因检测效能的临床应用与验证

Data volume optimization of pooled library sequencing enhances clinical application and valida-tion of genetic testing efficacy in oncological surgery

骆嘉欢 1黄靖华 1蒋圆玲 1黄永胜 2尹欣科 1付莎 1欧阳能太 1廖健伟2

作者信息

  • 1. 中山大学孙逸仙纪念医院细胞分子诊断中心,广东 广州 510120
  • 2. 中山大学孙逸仙纪念医院细胞分子诊断中心,广东 广州 510120||广东省恶性肿瘤表现遗传与基因调控重点实验室,广州 510120
  • 折叠

摘要

Abstract

Objective To optimize data allocation strategies for tumor libraries of different lengths on the Illumina NextSeq 550 sequencing platform,ensuring detection quality while meeting the timeliness requirements of surgical diagnosis and treatment.Methods In 10 batches of experiments,the output ratio(output data volume/input data volume)of three library types(275 bp/300 bp amplicons,350 bp hybrid capture)was quantified.This quantification was used to determine the cluster generation capability of different libraries.Further analysis was conducted to derive the adjustment range for the data volume ratio of libraries with different lengths.Based on this range,the concentration of each library was adjusted to regulate its final data volume.Results The data volume for 300 bp amplicon libraries should be adjusted to a range of 0.55×to 0.72×.The data volume of 275 bp amplicon libraries should be adjusted in the range of 0.56×to 0.79×.The data volume of 350 bp hybridization capture libraries can be adjusted according to the amount of redundant data on the flow cell to balance data output.Conclusion Adjusting library loading volumes based on output ratios quantifying clustering capabilities across libraries of varying lengths enables balanced output of tumor pooled sequencing data and optimal utilization of chip resources.

关键词

肿瘤靶向测序/数据量分配/NextSeq 550测序平台/杂交捕获文库/扩增子文库

Key words

tumor target sequencing/data assignment/NextSeq 550 sequencing platform/hybrid-ization capture-based enrichment/amplicon enrichment

分类

医药卫生

引用本文复制引用

骆嘉欢,黄靖华,蒋圆玲,黄永胜,尹欣科,付莎,欧阳能太,廖健伟..混合文库测序数据量优化提升肿瘤外科基因检测效能的临床应用与验证[J].岭南现代临床外科,2026,26(1):27-32,6.

基金项目

广东省基础与应用基础研究基金(2021A15151111 38) (2021A15151111 38)

广州市科技计划项目(2023A04J2103) (2023A04J2103)

岭南现代临床外科

1009-976X

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