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针对罕见疾病的下一代测序

Aleša Kristan1, Nataša Debeljak2

  • 1Medical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Methods in molecular biology (Clifton, N.J.)
|November 15, 2024
PubMed
概括

目标下一代测序 (NGS) 为罕见疾病诊断提供了一种敏感,具有成本效益的方法. 这种方法丰富了特定的基因组区域,有助于识别罕见变异和解释未知意义的变异.

关键词:
数据分析数据分析特定疾病的DNA探针探针.混合化捕获的捕获方式图书馆准备工作 图书馆准备工作病原性预测的预测.测序测序是指测序的时间.有针对性的缩.

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