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在各种样本类型中,MGI和illumina测序平台之间的基于捕获的mtDNA测序性能的比较

Zehui Feng¹, Fan Peng¹, Fanfan Xie^1,2

¹State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers and, Department of Physiology and Pathophysiology, Fourth Military Medical University, Xi'an, 710032, China.

|January 8, 2024

概括

对线粒体DNA (mtDNA) 测序的Illumina NovaSeq 6000和MGI DNBSEQ-T7进行比较,显示了大多数样本类型的高一致性. 然而,血和尿液样本出现了差异,需要仔细考虑平台数据特征.

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
生物信息学是一种生物信息学.

背景情况:

线粒体功能障碍,与线粒体基因组异常相关,影响细胞生物学和疾病发展.
线粒体DNA (mtDNA) 测序对于理解这些过程至关重要.
Illumina和MGI平台被广泛用于基于捕获的mtDNA测序,但缺乏直接的性能比较.

研究的目的:

系统地比较基于捕获的mtDNA测序的Illumina NovaSeq 6000和MGI DNBSEQ-T7的性能.
评估各种样本类型的平台性能,包括组织,PBMC,FFPE,血和尿液.
识别测序质量,数据输出和突变检测能力的潜在差异.

主要方法:

基于捕获的mtDNA测序是在组织,PBMC,FFPE,血和尿液样本上进行的.
使用Illumina NovaSeq 6000和MGI DNBSEQ-T7平台进行测序.
分析了测序质量,GC含量,覆盖范围,数据输出,mtDNA拷贝数和突变检测.

主要成果:

这两个平台在所有样本类型的测序质量,GC内容和覆盖率方面都表现出高度一致性.
与NovaSeq 6000相比,DNBSEQ-T7产生了更高的清洁数据和重复率,但每千兆字节的mtDNA数据较低.
虽然在组织,FFPE和PBMC样本中一致,但在血和尿液样本中检测到的mtDNA突变数量中观察到显著差异,具有明显的碎片大小分布和末端偏好.

结论:

Illumina NovaSeq 6000和MGI DNBSEQ-T7通常显示出基于捕获的mtDNA测序的良好一致性.
在分析来自血和尿液样本的mtDNA测序数据时,必须考虑平台特定的数据特征.
对于敏感应用程序,可能需要对平台特定偏差进行进一步调查.

关键词:

基于捕获的mtDNA测序在 DNBSEQ-T7 中.诺瓦Seq 6000 是一个 6000 个.测序平台是一个测序平台.

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