Article
Thalassemia screening by third-generation sequencing: Pilot study in a Thai population
26 Oct 2023
Abstract excerpt
Background: Conventional thalassemia screening takes a stepwise approach and has limitations in comprehensively identifying all spectrums of mutations. This study aimed to investigate the performance of third-generation sequencing (TGS) compared to conventional molecular testing. Methods: TGS was applied to validate all known variants detected by conventional testing and to detect missing variants in undiagnosed...
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