Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA.
Methods Mol Biol. 2021;2194:143-175. doi: 10.1007/978-1-0716-0849-4_9.
High-throughput sequencing (HTS) has revolutionized researchers' ability to study the human transcriptome, particularly as it relates to cancer. Recently, HTS technology has advanced to the point where now one is able to sequence individual cells (i.e., "single-cell sequencing"). Prior to single-cell sequencing technology, HTS would be completed on RNA extracted from a tissue sample consisting of multiple cell types (i.e., "bulk sequencing"). In this chapter, we review the various bioinformatics and statistical methods used in the processing, quality control, and analysis of bulk and single-cell RNA sequencing methods. Additionally, we discuss how these methods are also being used to study tumor heterogeneity.
高通量测序(HTS)极大地改变了研究人员研究人类转录组的能力,尤其是在癌症方面。最近,HTS 技术已经发展到能够对单个细胞进行测序的地步(即“单细胞测序”)。在单细胞测序技术出现之前,HTS 是在从包含多种细胞类型的组织样本中提取的 RNA 上完成的(即“批量测序”)。在本章中,我们回顾了用于处理、质量控制和分析批量和单细胞 RNA 测序方法的各种生物信息学和统计方法。此外,我们还讨论了这些方法如何也被用于研究肿瘤异质性。