Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Howard Hughes Medical Institute, Seattle, Washington, USA.
Nat Protoc. 2016 Oct;11(10):1782-7. doi: 10.1038/nprot.2016.135. Epub 2016 Sep 1.
New technologies have recently enabled saturation mutagenesis and functional analysis of nearly all possible variants of regulatory elements or proteins of interest in single experiments. Here we discuss the past, present, and future of such multiplexed (functional) assays for variant effects (MAVEs). MAVEs provide detailed insight into sequence-function relationships, and they may prove critical for the prospective clinical interpretation of genetic variants.
新技术最近使得在单个实验中对调控元件或感兴趣的蛋白质的几乎所有可能的变体进行饱和诱变和功能分析成为可能。在这里,我们讨论了这种用于变体效应(MAVE)的多重(功能)分析的过去、现在和未来。MAVE 提供了对序列-功能关系的详细了解,并且它们可能对遗传变异的前瞻性临床解释至关重要。