Article

Expanding the Atlas of Functional Missense Variation for Human Genes

2017-07-27

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 framework...

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Literature Corpus work: 38da87ab-d75d-5d2d-b68a-00653f0794e5
DOI: 10.1101/166595

Open publication

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