exome sequencing

MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics

罕見功能性變異（英语：Rare functional variant） SNP比對分析（英语：SNP annotation） 外顯子定序（英语：Exome Sequencing） Alberts, Bruce; Johnson, Alexander; Lewis, Julian; Raff, Martin; Roberts

Ludger; Züchner, Stephan. Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Molecular Genetics

通过免疫荧光染色检测精子中PLCζ阳性率及定位，可为IVF受精率的评估提供参考。利用全外显子测序（whole exome sequencing，WES）可筛查与受精障碍相关的基因突变。 胞浆内精子注射技术（ICSI）通过将单个精子直接注入卵胞质内，可解决大部分因识别或融合异常

Meng, J.; Cui, X.; Rao, M. K.; Chen, Y.; Huang, Y. Exome-based analysis for RNA epigenome sequencing data. Bioinformatics. 14 April 2013, 29 (12): 1565–1567