Keats Jonathan J, Cuyugan Lori, Adkins Jonathan, Liang Winnie S
Translational Genomics Research Institute (TGen), 445 N. Fifth Street, Phoenix, AZ, 85004, USA.
Methods Mol Biol. 2018;1706:151-161. doi: 10.1007/978-1-4939-7471-9_8.
With the rapid evolution of genomics technologies over the past decade, whole genome sequencing (WGS) has become an increasingly accessible tool in biomedical research. WGS applications include analysis of genomic DNA from single individuals, multiple related family members, and tumor/normal samples from the same patient in the context of oncology. A number of different modalities are available for performing WGS; this chapter focuses on wet lab library construction procedures for complex short insert WGS libraries using the KAPA Hyper Prep Kit (Kapa Biosystems), and includes a discussion of appropriate quality control measures for sequencing on the Illumina HiSeq2000 platform. Additional modifications to the protocol for long insert WGS library construction, to assess structural alterations and copy number changes, are also described.
在过去十年中，随着基因组学技术的迅速发展，全基因组测序（WGS）已成为生物医学研究中越来越容易获得的工具。WGS的应用包括对单个个体、多个相关家庭成员的基因组DNA进行分析，以及在肿瘤学背景下对同一患者的肿瘤/正常样本进行分析。有多种不同的方法可用于进行WGS；本章重点介绍使用KAPA Hyper Prep试剂盒（Kapa Biosystems）构建复杂短插入WGS文库的湿实验室文库构建程序，并讨论在Illumina HiSeq2000平台上进行测序的适当质量控制措施。还描述了对长插入WGS文库构建方案的其他修改，以评估结构改变和拷贝数变化。
