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Article

Saturation mutagenesis-reinforced functional assays for disease-related genes.

Cell - 14 Nov 2024

Ma Kaiyue, Huang Shushu, Ng Kenneth K, Lake Nicole J, Joseph Soumya, Xu Jenny, Lek Angela, Ge Lin, Woodman Keryn G, Koczwara Katherine E, Cohen Justin, Ho Vincent, O'Connor Christine L, Brindley Melinda A, Campbell Kevin P, Lek Monkol

Abstract excerpt

Interpretation of disease-causing genetic variants remains a challenge in human genetics. Current costs and complexity of deep mutational scanning methods are obstacles for achieving genome-wide resolution of variants in disease-related genes. Our framework, saturation mutagenesis-reinforced functional assays (SMuRF), offers simple and cost-effective saturation mutagenesis paired with streamlined functional...

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Identifiers

PMID: 39326416
DOI: 10.1016/j.cell.2024.08.047
PMCID: PMC11568926

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