[Application of Next Generation Sequencing in Genetic Diagnosis of Hereditary Platelet Disorders – Review].

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[Application of Next Generation Sequencing in Genetic Diagnosis of Hereditary Platelet Disorders – Review].

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2018 Feb;26(1):278-282

Authors: Shi HP, Wang ZY

Abstract
Hereditary platelet disorders are a heterogeneous group of disorders characterized by abnormal number or function of platelets, sometimes even involving other systems apart from blood abnormalities. The great clinical and genetic heterogeneity makes the diagnosis and treatment of hereditary platelet disorders as a huge challenge for clinicians. At present, only a small number of patients have received a clear molecular diagnosis of hereditary platelet diseases, and a lot of pathogenic genetic variations still remain unknown. The popularity of next generation sequencing (NGS) promotes the development of individualized gene sequencing. Researchers have made great progress in the field of hemostasis and thrombosis using whole genome sequencing (WGS), whole exone sequencing (WES) and target gene sequencing (TGS). The development of NGS has not only promoted the individualized molecular diagnosis of hereditary platelet diseases, but also laid a solid foundation for gene therapy in the future. In this review, the new progress of the diagnosis of platelet-related diseases by using next generation sequencing techniques, is summarized.

PMID: 29397858 [PubMed – in process]

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