Parker Helen, Carr Louise, Syeda Sharma, Bryant Dean, Strefford Jonathan C
Cancer Genomics, Academic Unit of Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Southampton General Hospital, Southampton, UK.
Methods Mol Biol. 2019;1881:327-353. doi: 10.1007/978-1-4939-8876-1_23.
Shallow whole genome sequencing (sWGS) is a simple, robust, and cost-effective technique recently optimized for the identification of copy number aberrations (CNAs) in tumor samples. This multiplexed methodology sequences 50 bp from one end of the DNA molecule, generating ˜0.1× coverage, and utilizes the observed sequence depth across the genome to infer copy number. It is amenable to low quantities of input DNA, sequencing costs are modest, processing is compatible with low-output instruments, and downstream analysis is simplified by the use of freely available bioinformatics tools and a data analysis package written especially for the analysis of sWGS data. It is the aim of this chapter to introduce the fundamental concepts of sWGS and to provide an overview of the steps involved in a successful sWGS experiment.
浅层全基因组测序(sWGS)是一种简单、可靠且经济高效的技术,最近经过优化用于识别肿瘤样本中的拷贝数变异(CNA)。这种多重方法从DNA分子的一端对50个碱基对进行测序,产生约0.1倍的覆盖率,并利用全基因组中观察到的序列深度来推断拷贝数。它适用于少量输入DNA,测序成本适中,处理过程与低通量仪器兼容,并且通过使用免费的生物信息学工具和专门为分析sWGS数据编写的数据分析包简化了下游分析。本章旨在介绍sWGS的基本概念,并概述成功进行sWGS实验所涉及的步骤。