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Article

High-throughput screening of human genetic variants by pooled prime editing.

Cell genomics - 9 Apr 2025

Herger Michael, Kajba Christina M, Buckley Megan, Cunha Ana, Strom Molly, Findlay Gregory M

Abstract excerpt

Multiplexed assays of variant effect (MAVEs) enable scalable functional assessment of human genetic variants. However, established MAVEs are limited by exogenous expression of variants or constraints of genome editing. Here, we introduce a pooled prime editing (PE) platform to scalably assay variants in their endogenous context. We first improve efficiency of PE in HAP1 cells, defining optimal prime editing guide...

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Identifiers

PMID: 40120586
DOI: 10.1016/j.xgen.2025.100814
PMCID: PMC12008803

Genes

HAP1
MLH1
SMARCB1

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