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ized patients.Currently, carrier testing for thalassemia requires the application of different molecular tests to provide an accurate genotype. As an alternative method, long-molecule sequencing (LMS) was evaluated on the PacBio Sequel platform for genotyping carriers of α-thalassemia or β-thalassemia. Multiplex long PCR was used to generate representative amplicons for the α (HBA1/2) and β (HB gene loci. Following LMS, circular consensus sequencing reads were aligned to the hg19 reference genome and variants called using FreeBayes softw
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