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Complexities in Variant Analysis, Classification, and Interpretation in Kidney Disease-Related Genes.

Seminars in nephrology - 1 Sept 2025

Westemeyer Maggie, Bloom Michelle S, Byrne Alicia B, Charu Vivek

Abstract excerpt

Advancements in chronic kidney disease (CKD) genetic research and next-generation sequencing have improved CKD diagnosis and personalized treatment. Broad gene panel testing or whole exome/genome sequencing has greatly improved understanding of the genetic etiology of kidney disease but has also increased the complexity of interpretation. Standardized variant classification guidelines help, but challenges remain...

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PMID: 40774919
DOI: 10.1016/j.semnephrol.2025.151646

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