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Simultaneous human platelet antigen genotyping and detection of novel single nucleotide polymorphisms by targeted next-generation sequencing

机译:靶向下一代测序的同时人血小板抗原基因分型及新单核苷酸多态性检测

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BACKGROUNDTwenty-nine human platelet antigen systems have been described to date, but the majority of current genotyping methods are restricted to the identification of those most commonly associated with alloantibody production in a clinical context. This can result in a protracted investigation if causative human platelet antigens are rare or novel. A targeted next-generation sequencing approach was designed to detect all known human platelet antigens with the additional capability of identifying novel mutations in the encoding genes.
机译:迄今描述了背景技术迄今为止描述了,但大多数当前的基因分型方法仅限于临床环境中鉴定与均等的含有同种异体产量相关的人。 如果致病人的血小板抗原是稀有或新颖的,这可能导致延长调查。 设计了靶向的下一代测序方法以检测所有已知的人血小板抗原,其具有识别编码基因中的新突变的额外能力。

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