肿瘤突变负荷位点检测准确性评价

目的使用肿瘤突变负荷国家参考品中高置信SNP/Indel位点标准集的参考品,评价肿瘤突变负荷检测试剂盒的位点检测准确性。方法采用TMB检测试剂盒(可逆末端终止测序法)检测肿瘤突变负荷检测国家参考品中高置信SNP/Indel位点标准集的参考品。首先将DNA片段化处理,进行末端修复、接头连接和文库扩增等步骤后构建文库;然后将文库杂交捕获;最后使用NextSeq 550 Dx基因测序仪进行测序。结果TMB-14-2%、TMB-14-5%和TMB-14-10%参考品的突变检测准确性分别为89.00%、95.20%、95.80%。结论高置信SNP/Indel位点标准集的参考品,能够用于评价肿瘤突变负荷检测试剂盒的位点检测准确性。

Evaluation of the accuracy of tumor mutation burden site detection

Objective To evaluate the site detection accuracy of the tumor mutation burden TMB detection kit by using high-confidence SNP/Indel locus standard set in the national reference materials.Methods The TMB detection kit(reversible terminal termination sequencing method)was used to detect the reference samples of the high-confidence SNP/Indel locus standard set in the national reference materials for tumor mutation burden detection. First,the library was constructed by shearing DNA,end repair,adapter ligation,and library amplification. Then the library was hybridized and captured. Finally,the NextSeq550 Dx sequencer was used for sequencing. Results The accuracy of TMB-14-2%、TMB-14-5% and TMB-14-10% was89.00%、95.20%、and 95.80%,respectively. Conclusion The reference material of the high-confidence SNP/Indel site standard set can be used to evaluate the site detection accuracy of the tumor mutation burden detection kit.