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

• Published in: Journal of thrombosis and haemostasis Vol. 22; no. 12; pp. 3431 - 3447
• Main Authors: Shi, Meizhen, Ma, Yunting, Peng, Xianwei, Zhou, Xu, Cheng, Zifeng, Xie, Bobo, Wei, Xianda, Gui, Chunrong, Mao, Aiping, Lin, Wenting, Luo, Jiefeng, Lai, Yinghui, Gui, Baoheng
• Format: Journal Article
• Language: English
• Published: England Elsevier Inc 01.12.2024
• Subjects: 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

Targeted long-read sequencing (LRS) is expected to comprehensively analyze diverse complex variants in hemophilia A (HA) and hemophilia B (HB) caused by the F8 and F9 genes, respectively. However, its clinical applicability still requires extensive validation. To evaluate the clinical applicability...