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评估纳米孔适应性采样对目标转录组测序的潜力和局限性

Nicole DeBruyne¹, Feng Wang², Yang Xu^2,3

¹Graduate Group in Cell and Molecular Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

|October 10, 2025

概括

长时间读取RNA测序中的自适应采样适度丰富了目标,但效果不如杂交捕获. 直接RNA测序显示了在时间敏感应用中提高产量的潜力.

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:

长读RNA测序提供了全面的转录基因洞察力.
高成本和低吞吐量限制了其广泛应用.
适应性采样是纳米孔测序的丰富策略.

研究的目的:

评估适应性采样对人类转录组分析的有效性.
为了比较适应性采样与传统的cDNA杂交捕获.
评估适应性采样对基因表达和拼接数据的影响.

主要方法:

利用牛津纳米孔技术进行自适应采样.
进行了cDNA和直接RNA测序.
分析了人类转录组数据,比较了丰富效率和数据质量.

主要成果:

适应性采样提供了适度的丰富性 (1.3x为cDNA, 1.9x为直接RNA).
基因表达和拼接配置文件被保留.
效率明显低于cDNA杂交捕获.
短读长度和低序列质量影响了性能.

结论:

适应性采样为长读RNA测序提供了适度的丰富策略.
直接RNA测序与适应性采样可以在固定的运行时间内增加目标产量.
需要进一步改进测序技术,以最大限度地发挥适应性采样的好处.

关键词:

适应性抽样采集方式长读序列的测序方式牛津纳米孔技术公司在RNA测序过程中,RNA测序选择性测序是一种选择性测序.有针对性的测序.文字转录学 (Transcriptomics) 是一个学科.

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RNA-seq

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...