Literature DB >> 27583640

The power of multiplexed functional analysis of genetic variants.

Molly Gasperini1, Lea Starita1, Jay Shendure1,2.   

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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Year:  2016        PMID： 27583640      PMCID： PMC6690347          DOI： 10.1038/nprot.2016.135

Source DB:  PubMed          Journal:  Nat Protoc        ISSN： 1750-2799            Impact factor:   13.491


  80 in total

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3.  Variant Interpretation: Functional Assays to the Rescue.

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Review 7.  Modern methods for laboratory diversification of biomolecules.

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Review 10.  Childhood rare lung disease in the 21st century: "-omics" technology advances accelerating discovery.

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