Pooled Multiplex Amplicon Massive Parallel Sequencing for High-Throughput Confirmation of Whole-Genome Sequencing Potentially Pathogenic Variants in Patients with Parkinsonism

Whole-genome sequencing identifies large numbers of genetic variants, although only a subset requires independent confirmation for clinical interpretation. Sanger sequencing remains the standard confirmation method but is impractical for large-scale variant verification. We developed and evaluated a strategy for variant confirmation based on multi-amplicon massively parallel sequencing of pooled DNA samples. Whole-genome sequencing data were obtained from 86 individuals, including patients with parkinsonism and controls. Variants were selected using phenotype-driven filtering, ClinVar classifi

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