| 高通量测序技术在新生儿疾病筛查中的应用进展 |
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| 引用本文： | 吴爽,强荣,张瑞雪,华伟. 高通量测序技术在新生儿疾病筛查中的应用进展[J]. 中国妇幼健康研究, 2021, 32(1) |
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| 作者姓名： | 吴爽 强荣 张瑞雪 华伟 |
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| 作者单位： | 西安医学院,陕西西安710000;西北妇女儿童医院医学遗传科,陕西西安710061 |
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| 摘 要： | 新生儿疾病筛查(NBS)是世界范围内降低新生儿致残率和死亡率的重要措施。随着基因组学和分子技术的发展,高通量测序成为近几年迅速发展的DNA测序技术,其通过一次性检测可以发现上百种遗传病,并可对疾病进行准确诊断及分型,其为NBS提供了新途径。该文对近年关于高通量测序技术(NGS)在NBS中的应用进行综述。
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| 关 键 词： | 高通量测序技术 新生儿疾病筛查 遗传性疾病 串联质谱技术 |
Application progress of next-generation sequencing technology in neonatal disease screening |
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| WU Shuang,QIANG Rong,ZHANG Ruixue,HUA Wei. Application progress of next-generation sequencing technology in neonatal disease screening[J]. Chinese Journal of Maternal and Child Health Research, 2021, 32(1) |
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| Authors: | WU Shuang QIANG Rong ZHANG Ruixue HUA Wei |
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| Affiliation: | (Xi'an Medical University,Shaanxi Xi'an 710000,China;Northwest Women's and Children’s Hospital,Shaanxi Xi’an 710061,China) |
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| Abstract: | Newborn disease screening is an important measure to reduce neonatal disability and mortality worldwide.With the development of genomics and molecular technology,next-generation sequencing has become a rapidly developing DNA sequencing technology in recent years.This technology can find hundreds of genetic diseases through a single test,not only can accurately diagnose and type diseases but also provides a new way for newborn screening.This paper reviews the application of next-generation sequencing in newborn screening in recent years. |
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| Keywords: | next-generation sequencing newborn disease screening hereditary tandem mass spectrometry |
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