title: The power of multiplexed functional analysis of genetic variants.
abstract: 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.
authors: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors: Molly
authors: M
authors: Gasperini
authors: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors: Lea
authors: L
authors: Starita
authors: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.|Howard Hughes Medical Institute, Seattle, Washington, USA.
authors: Jay
authors: J
authors: Shendure
mesh_terms: D000818:Animals; D014644:Genetic Variation; D023281:Genomics / Q000379:methods*; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D008958:Models, Molecular; D016296:Mutagenesis; D010641:Phenotype; D011506:Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D011506:Proteins