Methodological breakthroughs over the past four decades have repeatedly revolutionized transcriptome profiling. Using RNA sequencing (RNA-seq), it has now become possible to sequence and quantify the transcriptional outputs of individual cells or thousands of samples. These transcriptomes provide a link between cellular phenotypes and their molecular underpinnings, such as mutations. In the context of cancer, this link represents an opportunity to dissect the complexity and heterogeneity of tumours and to discover new biomarkers or therapeutic strategies. Here, we review the rationale, methodology and translational impact of transcriptome profiling in cancer.

在过去的四十年中，方法学上的突破反复地革新了转录组分析。使用RNA测序（RNA-seq），现在可以对单个细胞或数千个样品的转录输出进行测序和定量。这些转录组提供了细胞表型与其分子基础（例如突变）之间的联系。在癌症的背景下，这种联系代表了剖析肿瘤的复杂性和异质性并发现新的生物标志物或治疗策略的机会。在这里，我们回顾了转录组谱分析在癌症中的基本原理，方法论和翻译影响。