The power of multiplexed functional analysis of genetic variants

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Genetic Variation*
  • Genomics / methods*
  • Genotype
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Models, Molecular
  • Mutagenesis*
  • Phenotype
  • Proteins / chemistry
  • Proteins / genetics*
  • Proteins / metabolism


  • Proteins