Third-generation sequencing (TGS) has led to a brave new revolution in detecting genetic
diseases over the last few years. TGS has been rapidly developed for genetic disease …

Background The aim is to evaluate the clinical utility of a long-read sequencing-based
approach termed comprehensive analysis of thalassemia alleles (CATSA) in prenatal …

Background Hemophilia A (HA) is the most frequently occurring X-linked bleeding disorder
caused by heterogeneous variants in the F8 gene, one of the largest genes known …

Routine PCR, Sanger sequencing, and specially designed GAP-PCR are often used in the
genetic analysis of thalassemia, but all these methods have limitations. In this study, we …

Background PCR, Sanger sequencing and NGS are often employed for carrier screening of
thalassemia but all of these methods have limitations. In this study, we evaluated a new third …

Objectives To explore the application of third-generation sequencing (TGS) for genetic
diagnosis and prenatal genetic screening of thalassemia genes. Methods Two groups of …

Background: Thalassemia is the most prevalent monogenic disorder caused by an
imbalance between the α-and β-globin chains as a result of pathogenic variants in the α-or β …

Abstract Background Oxford Nanopore Technology (ONT) third-generation sequencing
(TGS) is a versatile genetic diagnostic platform. However, it is nonetheless challenging to …

Background Thalassemia is a common inherited hemoglobin disorder caused by a
deficiency of one or more globin subunits. Substitution variants and deletions in the HBB …

Abstract Objectives Hemoglobin (Hb) Lepore and Hb anti-Lepore are infrequent fusion gene
variants that result from nonhomologous crossovers during meiosis. Conventional molecular …