Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease

Abstract excerpt

Chronic kidney disease (CKD) affects 9.1% globally and is associated with significant morbidity and mortality. While up to 10% of CKD cases yield a genetic diagnosis with hundreds of implicated genes included in some genetic test panels, the results often yield many variants of uncertain significance (VUS). We sought to report genetic testing outcomes in a cohort of 228 patients who received genetic testing for ki...

Topics

Open a Topic to create a Post that cites this publication.

• Genetic Testing
• High-Throughput Nucleotide Sequencing
• Kidney
• Mutation
• Polymorphism, Single Nucleotide
• Renal and related cancers
• Renal Diseases and Glomerulopathies
• Renal Insufficiency, Chronic

Identifiers and source

Literature Corpus work

968d0099-2585-5a84-bf8a-60886c1adff9

DOI

10.1101/2025.11.07.25339257