A framework for exhaustively mapping functional missense variants

A framework for exhaustively mapping functional missense variants

Abstract Although we now routinely sequence human genomes, we can confidently identify only a fraction of the sequence variants that have a functional impact. Here, we developed a deep mutational scanning framework that produces exhaustive maps for human missense variants by combining random codon m...

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Bibliographic Details
Main Authors: Jochen Weile, Song Sun, Atina G Cote, Jennifer Knapp, Marta Verby, Joseph C Mellor, Yingzhou Wu, Carles Pons, Cassandra Wong, Natascha van Lieshout, Fan Yang, Murat Tasan, Guihong Tan, Shan Yang, Douglas M Fowler, Robert Nussbaum, Jesse D Bloom, Marc Vidal, David E Hill, Patrick Aloy, Frederick P Roth
Format: Article
Language:English
Published: Springer Nature 2017-12-01
Series:Molecular Systems Biology
Subjects:
complementation
deep mutational scanning
genotype–phenotype
variants of uncertain significance
Online Access:https://doi.org/10.15252/msb.20177908
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https://doi.org/10.15252/msb.20177908

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