Article
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.
Genome medicine - 7 Feb 2025
Muffels Irena Josephina Johanna, Waterham Hans R, D'Alessandro Giuseppina, Zagnoli-Vieira Guido, Sacher Michael, Lefeber Dirk J, Van der Vinne Celine, Roifman Chaim M, Gassen Koen L I, Rehmann Holger, Van Haaften-Visser Desiree Y, Nieuwenhuis Edward S S, Jackson Stephen P, Fuchs Sabine A, Wijk Femke, van Hasselt Peter
Abstract excerpt
BACKGROUND: Deciphering variants of uncertain significance (VUS) represents a major diagnostic challenge, partially due to the lack of easy-to-use and versatile cellular readouts that aid the interpretation of pathogenicity and pathophysiology. To address this challenge, we propose a high-throughput screening of cellular functionality through an imaging flow cytometry (IFC)-based platform. METHODS: Six assays to...
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