Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

Abstract 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-th...

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Main Authors: Irena Josephina Johanna Muffels, Hans R. Waterham, Giuseppina D’Alessandro, Guido Zagnoli-Vieira, Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne, Chaim M. Roifman, Koen L. I. Gassen, Holger Rehmann, Desiree Y. Van Haaften-Visser, Edward S. S. Nieuwenhuis, Stephen P. Jackson, Sabine A. Fuchs, Femke Wijk, Peter van Hasselt
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Genome Medicine
Subjects:
Imaging flow cytometry
Variant of uncertain significance
Precision genomic diagnostics
DNA damage repair defect
Genetic diseases
Metabolic disorders
Online Access:https://doi.org/10.1186/s13073-025-01433-9
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https://doi.org/10.1186/s13073-025-01433-9

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