Next-generation sequencing (ngs) and third-generation sequencing (tgs) for the diagnosis of thalassemia

HIGHLIGHTS

• who: Syahzuwan Hassan and colleagues from the Department of Hematology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia have published the Article: Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia, in the Journal: Diagnostics 2023, 373 of /2023/
• what: NGS and TGS are useful for simultaneous SNV, indels, and SV genotyping.

SUMMARY

New symptomatic thalassemia called transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT) were proposed primarily to classify various α- and β-thalassemia and variants. Long-read sequencing is superior for CNV detection . . .

 



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