Genome Editing as a Tool toward Better Functional Understanding of Variants Identified by Next-Generation Sequencing

[摘要] Next-generation sequencing has revolutionized clinical laboratory diagnostics; however, it is not without its challenges. One of the main shortcomings of clinical laboratories using this technology is interpretion of the variants identified. International efforts are aimed at reclassification of variants of unknown significance (VUS)2 as deleterious or benign, based on available data such as allelic frequency in a control population, conservation of the amino acid, in silico predictors, and published functional assays. However, these efforts have their limitations. A recent article in Nature Medicine by Tsai et al. (1) discusses a recent technology called genome editing as a relatively quick, simple, and cost-effective way to reclassify VUS. Briefly, genome editing, via the Cas9 …

[学科分类] 过敏症与临床免疫学