Author

Di Cui

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Open access Oct 2026

Single-molecule real-time (SMRT) sequencing technology shows advantages in the clinical diagnosis of complex thalassemia

Thalassemia is a hereditary hemolytic anemia caused by pathogenic variants in the α- or β-globin genes, resulting in imbalanced globin chain synthesis. Clinical manifestations vary from asymptomatic carrier states to severe transfusion-dependent anemia. Current routine diagnostic methods in China, gap polymerase ch...

Ning Tang, Shi-Qiang Luo, Xing-Yuan Chen et al. · Frontiers in Medicine · 0 citations

Open access Sep 2026

Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency.

Long-read sequencing (LRS) provides a superior, integrated solution for the molecular diagnosis of 21-OHD, offering precise structural variant characterization, accurate carrier detection, and reliable breakpoint mapping.

Yan-Jie Xia, Di Cui, Dan-Hua Li et al. · Journal of Molecular Diagnos... · 0 citations