Advances in sequencing technology have greatly increased our ability to gather genomic data, yet understanding the impact of genetic mutations, particularly variants of uncertain significance (VUSs), remains a challenge in precision medicine. The CRISPR‒Cas system has emerged as a pivotal tool for genome engineering, enabling the precise incorporation of specific genetic variations, including VUSs, into DNA to facilitate their functional characterization. Additionally, the integration of CRISPR‒Cas technology with sequencing tools allows the high-throughput evaluation of mutations, transforming uncertain genetic data into actionable insights. This allows researchers to comprehensively study the functional consequences of point mutations, paving the way for enhanced understanding and increasing application to precision medicine. This review summarizes the current genome editing tools utilizing CRISPR‒Cas systems and their combination with sequencing tools for functional genomics, with a focus on point mutations.

测序技术的进步极大地提高了我们收集基因组数据的能力，但了解基因突变的影响，特别是意义不确定的变异 (VUS)，仍然是精准医学中的一个挑战。 CRISPR-Cas 系统已成为基因组工程的关键工具，能够将包括 VUS 在内的特定遗传变异精确整合到 DNA 中，以促进其功能表征。此外，CRISPR-Cas技术与测序工具的集成可以对突变进行高通量评估，将不确定的遗传数据转化为可行的见解。这使得研究人员能够全面研究点突变的功能后果，为增强理解和增加精准医学的应用铺平道路。本综述总结了当前利用 CRISPR-Cas 系统的基因组编辑工具及其与功能基因组学测序工具的结合，重点关注点突变。