Genetic & Genomic MedicinemedRxivPreprint
Pooled Multiplex Amplicon Massive Parallel Sequencing for High-Throughput Confirmation of Whole-Genome Sequencing Potentially Pathogenic Variants in Patients with Parkinsonism
Radek Vrtel, Radek Vodicka, Kristyna Kolarikova…·Martin Prochazka
The paper develops a method to confirm potentially pathogenic variants from whole-genome sequencing using pooled multiplex amplicon sequencing, achieving high concordance with Sanger sequencing.
DOI 10.64898/2026.11.10.26367697