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

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...

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Veröffentlicht in:	Journal of thrombosis and haemostasis 2024-12, Vol.22 (12), p.3431-3447
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	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
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