由于同源重组缺陷 (HRD) 是预测 PARP 抑制剂治疗效率的生物标志物，本研究开发了一种非外显子单核苷酸多态性 (SNP) 基因组学定向下一代测序 (Tg-NGS) 套件，并对其进行了标准和临床卵巢癌组织的全面检查。该面板计算的 HRD 得分与全基因组测序 (WGS) 一致，并且 Sequenza 分析是最可靠的。临床样本的结果显示，该面板在 HRD 分析方面表现优于 SNP 微阵列。这个新开发的套件与已报道的 HRD 检测面板之间存在几个区别。首先，面板仅包含 52,592 个 SNP，使其能够检测基因组不稳定性。其次，所有 SNP 都是非外显子的：因此，该面板可以与任何外显子面板协同使用。第三，所选的所有 SNP 在中国人中具有高的次要等位基因频率 (MAF)，使其成为中国患者 HRD 检测的更好选择。总之，该面板在临床应用中非常有前途，可指导卵巢和其他癌症的 PARP 抑制剂或铂制剂治疗。本文受版权保护。版权所有。

As homologous recombination deficiency (HRD) is a biomarker to predict the efficiency of PARP inhibitor treatment, this study developed a non-exonic single-nucleotide polymorphism (SNP)-based targeted next-generation sequencing (Tg-NGS) panel and comprehensively examined it both on standards and clinical ovarian cancer tissues. The HRD scores calculated by the panel and whole-genome sequencing (WGS) were consistent, and the analysis by Sequenza was the most reliable. The results on clinical samples revealed that the panel performed better in HRD analysis than SNP microarray. There are several distinctions between this newly developed kit and reported HRD detection panels. First, the panel covers only 52,592 SNPs, which makes it capable of detecting genomic instability. Second, all the SNPs are non-exonic: as a result, the panel can be used cooperatively with any exon panel. Third, all the SNPs selected have a high minor allele frequency (MAF) in Chinese people, making it a better choice for HRD detection in Chinese patients. In summary, this panel is promising in clinical application to guide PARP inhibitors or platinum drugs used in the treatment of ovarian and other cancers.This article is protected by copyright. All rights reserved.