Thrombus and hemorrhagic disease gene diagnosis method

user-5f8cf9244c775ec6fa691c99(2020)

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摘要
The invention discloses a thrombus and hemorrhagic disease gene diagnosis method. All currently known 156 related genes which directly or indirectly influence blood coagulation can be comprehensivelyand systematically analyzed at a time, and key points can be placed in areas, closely related to diseases, in human genomes to find out pathogenic mutations. Most of gene variations such as point mutation, small fragment and large fragment insertion and deletion, copy number change and the like are widely screened, covered and mutated for genes involved in a blood coagulation factor system, a platelet system, a fibrinolytic system, an endothelial system, an inflammatory system, a metabolic system and an anticoagulation system at a time. Compared with other popular whole-genome sequencing technologies at present, the method is superior to whole-genome sequencing in indexes such as thrombus-related target area coverage, effective data volume, capture efficiency data utilization rate, averagesequencing depth and repetition rate, and can effectively improve the diagnosis rate of thrombotic diseases and hemorrhagic diseases.
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关键词
Thrombus,Point mutation,Gene,Human genome,Platelet,Computational biology,Biology,Disease gene,Hemorrhagic diseases,Large fragment
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