The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease

Introduction: Genetic testing can reveal monogenic causes of kidney diseases, offering diagnostic, therapeutic, and prognostic benefits. Although single nucleotide variants (SNVs) and copy number variants (CNVs) can result in kidney disease, CNV analysis is not always included in genetic testing. Me...

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Bibliographic Details
Main Authors: Laura R. Claus, Robert F. Ernst, Martin G. Elferink, Hanneke W.M. van Deutekom, Bert van der Zwaag, Albertien M. van Eerde
Format: Article
Language:English
Published: Elsevier 2024-09-01
Series:Kidney International Reports
Subjects:
CNV analysis
COL4A4
diagnostic yield
ExomeDepth
genetic testing
nephrogenetics
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024924018023
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