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Expanding the Atlas of Functional Missense Variation for Human Genes
Atina G. Cote,
Natascha van Lieshout,
Douglas M Fowler,
Jesse D Bloom,
David E. Hill,
Frederick P Roth
Posted 27 Jul 2017
bioRxiv DOI: 10.1101/166595 (published DOI: 10.15252/msb.20177908)
Posted 27 Jul 2017
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 framework to four proteins corresponding to six human genes: UBE2I (encoding SUMO E2 conjugase), SUMO1 (small ubiquitin-like modifier), TPK1 (thiamin pyrophosphokinase), and CALM1/2/3 (three genes encoding the protein calmodulin). The resulting maps recapitulate known protein features, and confidently identify pathogenic variation. Assays potentially amenable to deep mutational scanning are already available for 57% of human disease genes, suggesting that DMS could ultimately map functional variation for all human disease genes.
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