Article

Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)

2023-07-12

Abstract excerpt

<h4>Summary</h4> Interpretation of disease-causing genetic variants remains a challenge in human genetics. Current costs and complexity of deep mutational scanning methods hamper crowd-sourcing approaches toward genome-wide resolution of variants in disease-related genes. Our framework, Saturation Mutagenesis-Reinforced Functional assays (SMuRF), addresses these issues by offering simple and cost-effective satura...

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Literature Corpus work: 8cc4c4c6-b630-571d-967a-e08fea58f32b
DOI: 10.1101/2023.07.12.548370

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