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Article

Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease

13 May 2020

Abstract excerpt

Background Next-generation sequencing (NGS) is a useful tool for evaluating patients with suspected genetic kidney disease. Clinical practice relies on the use of targeted gene panels that are ordered based on patient presentation. We compare the diagnostic yield of clinical panel-based testing to exome analysis. Methods In total, 324 consecutive patients underwent physician-ordered, panel-based NGS testing...

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Share to Chronic Kidney Disease and Diabetes
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Identifiers

PMID: 35372954
DOI: 10.34067/kid.0001342020

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