Aneuploidy: An opportunity within single-cell RNA sequencing analysis
Aneuploidy: An opportunity within single-cell RNA sequencing analysis
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DOI：
10.32604/biocell.2021.017296
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发表时间：
2021-01-01
期刊：
影响因子：
1.2
通讯作者：
Delaney, Joe R.
中科院分区：
文献类型：
--
作者：
Delaney, Joe R.
单细胞测序数据改变了对生物异质性的理解。虽然已经开发了许多单细胞测序，但单细胞RNA测序（scRNA-seq）目前是已发表文献中最多产的形式。由于单个细胞scRNA-seq基因计数内数据的不稳定性，所研究的细胞群体内的差异生物学的生物信息学分析依赖于细胞的推断和分组。一个生物学相关变量很容易从scRNA-seq基因计数表中推断出来，而不管单个细胞内的个体基因表现如何：非整倍性。由于染色体臂上存在数百个基因，因此可以从scRNA-seq数据集进行高质量的非整倍性推断。这一观点总结了这些生物信息学管道的利用如何有利于scRNA-seq研究，特别是在肿瘤学中，其中非整倍性是猖獗的，也是所研究疾病的标志。认识和使用这些分析管道将提高每个领域理解所研究疾病的能力。鼓励作者在报告scRNA-seq数据时尝试这些非整倍体分析，就像批量基因组测序数据中通常报告的拷贝数变异一样。
Single-cell sequencing data has transformed the understanding of biological heterogeneity. While many flavors of single-cell sequencing have been developed, single-cell RNA sequencing (scRNA-seq) is currently the most prolific form in published literature. Bioinformatic analysis of differential biology within the population of cells studied relies on inferences and grouping of cells due to the spotty nature of data within individual cell scRNA-seq gene counts. One biologically relevant variable is readily inferred from scRNA-seq gene count tables regardless of individual gene representation within single cells: aneuploidy. Since hundreds of genes are present on chromosome arms, high-quality inferences of aneuploidy can be made from scRNA-seq datasets. This viewpoint summarizes how utilization of these bioinformatic pipelines can benefit scRNA-seq studies, particularly in oncology wherein aneuploidy is both rampant and a hallmark of the studied disease. Awareness and use of these analytical pipelines will improve each field's ability to understand the studied diseases. Authors are encouraged to attempt these aneuploid analyses when reporting scRNA-seq data, much like copy-number variants are commonly reported in bulk genome sequencing data.