Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China.
Jiangfen WuDan XieLei WangYing KuangShulin LuoLingyan RenDi LiAiping MaoJiaqi LiLibao ChenBangquan AnShengwen HuangPublished in: Hematology (Amsterdam, Netherlands) (2022)
TGS could effectively detect common and rare thalassemia variants with high accuracy and efficiency. This approach would be suitable for prenatal thalassemia genetic screening in areas with high incidence of thalassemia.