ArticleNPJ genomic medicine2025
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.
Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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The trial behind it
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Who cites it
8 citing papers in PubMed.
- Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow-Up of the Fetuses.Prenatal diagnosis · 2026Article
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.Diagnostics (Basel, Switzerland) · 2026Article
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review.Global medical genetics · 2026Review
- Genome and transcriptome sequencing reveal pathogenic activation of a pseudoexon inGenetics in medicine open · 2026Article
- Genomic and epigenomic landscape of ADPKD: towards precision diagnostics and tailored treatments.Frontiers in epigenetics and epigenomics · 2026Review
- Shaping Precision Medicine: The Journey of Sequencing Technologies Across Human Solid Tumors.Biomedicines · 2025Review
- Long-Read Sequencing of CAH and ADPKD Provides Novel Insights Into the Genetic Diagnosis of Male Infertility.Reproductive medicine and biologyArticle
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 sequencing approach for PKD1 was performed on these 40 patients. LRS additionally identified 10 pathogenic or likely pathogenic PKD1 variants, including four patients with microgene conversion (c.160_166dup, c.2180T>C, and c.8161+1G>A) between PKD1 and its pseudogenes, three with indels (c.-49_43del, c.2985+2_2985+4del, and c.10709_10760dup), one with likely pathogenic deep intronic variant (c.2908-107G>A) and two with large deletions. LRS also identified nine PKD1 CNVs and precisely determined the breakpoints, while SRS failed to identify two of these CNVs. Therefore, LRS enables higher diagnostic yield of ADPKD and provides significant benefits for genetic counseling.
Identifiers
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Registered trials
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