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.

journal_name

Nat Protoc

journal_title

Nature protocols

authors

Gasperini M,Starita L,Shendure J

doi

10.1038/nprot.2016.135

subject

Has Abstract

pub_date

2016-10-01 00:00:00

pages

1782-7

issue

10

eissn

1754-2189

issn

1750-2799

pii

nprot.2016.135

journal_volume

11

pub_type

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