Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing–based analysis for hemophilia: experience from a hemophilia treatment center in China - Shi, Meizhen; Ma, Yunting; Peng, Xianwei; Zhou, Xu; Cheng, Zifeng; Xie, Bobo; Wei, Xianda; Gui, Chunrong; Mao, Aiping; Lin, Wenting; Luo, Jiefeng; Lai, Yinghui; et al. (Journal of thrombosis and haemostasis, 2024)
Keywords: Adolescent; Adult; breakpoint mapping; Child; Child, Preschool; China; clinical applicability; DNA Mutational Analysis; Factor IX - genetics; Factor VIII - genetics; Gene Rearrangement; gene variants; Genetic Predisposition to Disease; hemophilia; Hemophilia A - diagnosis; Hemophilia A - genetics; Hemophilia B - diagnosis; Hemophilia B - genetics; Humans; Male; Middle Aged; Phenotype; Polymerase Chain Reaction - methods; Predictive Value of Tests; Prospective Studies; Reproducibility of Results; Retrospective Studies; targeted long-read sequencing (LRS); Whole Genome Sequencing; Young Adult; China; hemophilia; clinical applicability; targeted long-read sequencing (LRS); breakpoint mapping; gene variants