Article
A framework for exhaustively mapping functional missense variants.
Molecular systems biology - 21 Dec 2017
Weile Jochen, Sun Song, Cote Atina G, Knapp Jennifer, Verby Marta, Mellor Joseph C, Wu Yingzhou, Pons Carles, Wong Cassandra, van Lieshout Natascha, Yang Fan, Tasan Murat, Tan Guihong, Yang Shan, Fowler Douglas M, Nussbaum Robert, Bloom Jesse D, Vidal Marc, Hill David E, Aloy Patrick, Roth Frederick P
Abstract excerpt
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 mutagenesis and multiplexed functional variation assays with computational imputation and refinement. We applied this...
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