Liang Winnie S, Stephenson Kristi, Adkins Jonathan, Christofferson Austin, Helland Adrienne, Cuyugan Lori, Keats Jonathan J
Translational Genomics Research Institute (TGen), 445 N. Fifth Street, Phoenix, AZ, 85004, USA.
Methods Mol Biol. 2018;1706:163-174. doi: 10.1007/978-1-4939-7471-9_9.
Whole exome sequencing (WES) is a DNA sequencing strategy that provides a survey of base substitutions across coding genomic locations and other regions of interest. As the coding portion of the genome encompasses only 1-2% of the entire genome, this approach represents a more cost-effective strategy to detect DNA alterations that may alter protein function, compared to whole genome sequencing. Although the research community has and is currently delineating the functional implications of sequence changes in noncoding regions of the genome, WES is a currently available assay that provides valuable information for both discovery research and precision medicine applications. In this chapter, we present a WES library preparation protocol using the KAPA Hyper Prep Kit with Agilent SureSelect Human All Exon V5+UTR probes that demonstrates high DNA-to-library conversion efficiency for sequencing on the Illumina HiSeq platform.
全外显子组测序（WES）是一种DNA测序策略，可对编码基因组区域和其他感兴趣区域的碱基替换进行全面检测。由于基因组的编码部分仅占整个基因组的1-2%，与全基因组测序相比，这种方法是一种更具成本效益的策略，用于检测可能改变蛋白质功能的DNA改变。尽管研究界已经并正在描绘基因组非编码区域序列变化的功能影响，但WES是一种目前可用的检测方法，可为发现研究和精准医学应用提供有价值的信息。在本章中，我们介绍了一种使用KAPA Hyper Prep试剂盒和安捷伦SureSelect Human All Exon V5+UTR探针的WES文库制备方案，该方案在Illumina HiSeq平台上测序时显示出高DNA到文库的转化效率。
