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一种差分深度测序方法,SPRE-Seq,用于增强混合捕获基于NGS的目标区域覆盖率

Hui-Juan Chen^1,2, Bing Wang³, Yi-Ran Zhang⁴

¹Beijing CapitalBio MedLab Co., Ltd Beijing P.R. China.

Engineering in life sciences

|October 27, 2025

概括

一种新的差分测序方法SPRE-Seq优化了下一代测序 (NGS) 中针对目标区域的测序深度. 这种方法有效地将数据量减少一半,同时保持对同源重组缺陷 (HRD) 分析的高准确性.

科学领域:

基因组学和生物信息学
分子诊断学分子诊断

背景情况:

测序深度对于在下一代测序 (NGS) 中准确检测变异至关重要.
基于捕获的目标NGS面临着限制,需要平衡序列的宽度和深度.
同源重组缺陷 (HRD) 分析需要精确测序特定的基因组区域.

研究的目的:

引入SPRE-Seq,这是针对目标NGS面板的差分深度测序方法.
评估SPRE-Seq在同源重组修复 (HRR) 和HRD区域分析中的性能.
评估SPRE-Seq在减少测序数据量而不损害准确性的效率.

主要方法:

开发并实施了SPRE-Seq,这是一种在目标地区实现可变测序深度的方法.
使用定制 HRD 测定与 HRD 参考标准和临床样本进行验证的 SPRE-Seq.
在数据量和准确性方面,比较SPRE-Seq与常规捕获方法的性能.

主要成果:

在参考标准中,SPRE-Seq实现了HRR和HRD区域所需的测序深度,使用的数据减少了50% (6GB vs. 12GB).
在SPRE-Seq结果与HRR基因和HRD状态的预期结果之间观察到100%的一致性.
临床样本分析显示,在HRR区域的有效深度显著更高,SPRE-Seq在6GB与12GB的正常捕获相比,在6GB没有显著差异.

结论:

SPRE-Seq是一种可行且可靠的方法,用于确定HRD状态和HRR体质变异.
该方法显著减少了测序数据量,同时确保了足够的测序深度.
对于需要精确的深度控制的目标NGS应用,SPRE-Seq提供了一个具有成本效益的解决方案.

关键词:

混合化基于捕获的下一代测序.氧核酸探针的探测器测序深度的测序测序深度的测序

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