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Author

Paola Krall

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Open access Sep 2026

An optimized nanopore-based bioinformatic pipeline for PKD1 variant detection: development and validation with clinical samples

Accurate variant detection in PKD1 , the primary causative gene of autosomal dominant polycystic kidney disease (ADPKD), requires long-range PCR (LR-PCR) strategies to selectively amplify the functional gene and circumvent interference from highly homologous pseudogenes. Oxford Nanopore Technology (ONT) offer...

Diego Millar, Macarena Gajardo, Bárbara Poblete et al. · 0 citations

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