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无需PCR的全基因组测序技术
Centogene近日推出了一款全新的全基因组测序技术,用于诊断罕见和神经退行性疾病患者。根据该公司的说法,该测试使用无PCR方法,几乎涵盖了所有致病变异,包括某些重复扩张,与脊髓性肌萎缩相关的拷贝数变异,以及与Gaucher病和GBA1相关的帕金森病相关的 ...
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