The Power of Multiplexed Functional Analysis of Genetic Variants

Overview

Journal Nat Protoc

Specialties Biology
Pathology
Science

Date 2016 Sep 2

PMID 27583640

Citations 80

Authors

Molly Gasperini

Lea Starita

Jay Shendure

Affiliations

Soon will be listed here.

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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