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The power of multiplexed functional analysis of genetic variants

Nature Protocols volume 11, pages 1782–1787 (2016)Cite this article

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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.

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Figure 1: Multiplexed assays for variant effects (MAVEs) throughout the central dogma.
Figure 2: The key steps of MAVE.

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Acknowledgements

The authors thank the Shendure lab, and in particular R. Hause, for discussions. M.G. is a National Science Foundation Graduate Research Fellow. J.S. is an Investigator of the Howard Hughes Medical Institute.

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  1. Department of Genome Sciences, University of Washington, Seattle, Washington, USA

    Molly Gasperini, Lea Starita & Jay Shendure

  2. Howard Hughes Medical Institute, Seattle, Washington, USA

    Jay Shendure

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M.G., L.S., and J.S. prepared the manuscript.

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Correspondence to Jay Shendure.

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Gasperini, M., Starita, L. & Shendure, J. The power of multiplexed functional analysis of genetic variants. Nat Protoc 11, 1782–1787 (2016). https://doi.org/10.1038/nprot.2016.135

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