Suppr超能文献

单细胞测序数据变异检测及其应用的简短综述。

A short review of variants calling for single-cell-sequencing data with applications.

作者信息

Wei Zhuohui, Shu Chang, Zhang Changsheng, Huang Jingying, Cai Hongmin

机构信息

School of Computer Science & Engineering, South China University of Technology, Guangzhou, China.

School of Computer Science & Engineering, South China University of Technology, Guangzhou, China.

出版信息

Int J Biochem Cell Biol. 2017 Nov;92:218-226. doi: 10.1016/j.biocel.2017.09.018. Epub 2017 Sep 23.

Abstract

The field of single-cell sequencing is fleetly expanding, and many techniques have been developed in the past decade. With this technology, biologists can study not only the heterogeneity between two adjacent cells in the same tissue or organ, but also the evolutionary relationships and degenerative processes in a single cell. Calling variants is the main purpose in analyzing single cell sequencing (SCS) data. Currently, some popular methods used for bulk-cell-sequencing data analysis are tailored directly to be applied in dealing with SCS data. However, SCS requires an extra step of genome amplification to accumulate enough quantity for satisfying sequencing needs. The amplification yields large biases and thus raises challenge for using the bulk-cell-sequencing methods. In order to provide guidance for the development of specialized analyzed methods as well as using currently developed tools for SNS, this paper aims to bridge the gap. In this paper, we firstly introduced two popular genome amplification methods and compared their capabilities. Then we introduced a few popular models for calling single-nucleotide polymorphisms and copy-number variations. Finally, break-through applications of SNS were summarized to demonstrate its potential in researching cell evolution.

摘要

单细胞测序领域正在迅速扩展,在过去十年中已经开发出了许多技术。借助这项技术,生物学家不仅可以研究同一组织或器官中两个相邻细胞之间的异质性,还可以研究单个细胞中的进化关系和退化过程。识别变异是分析单细胞测序(SCS)数据的主要目的。目前,一些用于批量细胞测序数据分析的流行方法被直接定制用于处理SCS数据。然而,SCS需要额外的基因组扩增步骤来积累足够的量以满足测序需求。这种扩增会产生很大的偏差,从而给使用批量细胞测序方法带来挑战。为了为专门分析方法的开发以及使用当前开发的SNS工具提供指导,本文旨在弥合这一差距。在本文中,我们首先介绍了两种流行的基因组扩增方法并比较了它们的能力。然后我们介绍了一些用于识别单核苷酸多态性和拷贝数变异的流行模型。最后,总结了SNS的突破性应用,以展示其在研究细胞进化方面的潜力。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验