Dace Phoebe, Findlay Gregory M
The Genome Function Laboratory, The Francis Crick Institute, 1 Midland Rd, London, United Kingdom.
Med Genet. 2022 Nov 29;34(4):297-304. doi: 10.1515/medgen-2022-2159. eCollection 2022 Dec.
Accurate interpretation of human genetic data is critical for optimizing outcomes in the era of genomic medicine. Powerful methods for testing genetic variants for functional effects are allowing researchers to characterize thousands of variants across disease genes. Here, we review experimental tools enabling highly scalable assays of variants, focusing specifically on Saturation Genome Editing (SGE). We discuss examples of how this technique is being implemented for variant testing at scale and describe how SGE data for have been clinically validated and used to aid variant interpretation. The initial success at predicting variant pathogenicity with SGE has spurred efforts to expand this and related techniques to many more genes.
在基因组医学时代，准确解读人类遗传数据对于优化治疗效果至关重要。用于测试基因变异功能效应的强大方法使研究人员能够对数千种跨疾病基因的变异进行表征。在这里，我们回顾了能够实现变异体高度可扩展检测的实验工具，特别关注饱和基因组编辑（SGE）。我们讨论了该技术如何大规模用于变异体检测的实例，并描述了SGE数据如何经过临床验证并用于辅助变异体解读。利用SGE预测变异体致病性的初步成功激发了将该技术及相关技术扩展到更多基因的努力。
