Homo sapiens Genome sequencing Nanopore sequencing of thalassemia in Thailand (HBA1 HBA2 HBB G6PD)
We developed and analytically validated a comprehensive long-read sequencing workflow using Oxford Nanopore Technologies for simultaneous detection of pathogenic variants in HBA1, HBA2, HBB, and G6PD. A total of 63 genomic DNA samples with previously characterized genotypes were analyzed using multiplex long-amplicon PCR followed by nanopore sequencing and bioinformatic variant calling with Clair3.