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...