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Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis

11 Mar 2025

Abstract excerpt

Genetic diagnosis of ADPKD has been challenging due to the variant heterogeneity, presence of duplicated segments, and high GC content of exon 1 in PKD1. In our reproductive center, 40 patients were still genetically undiagnosed or diagnosed without single-nucleotide resolution after testing with a short-read sequencing panel in 312 patients with ADPKD phenotype. A combination of long-range PCR and long-read...

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PMID: 40069205
DOI: 10.1038/s41525-025-00477-5

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