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Updated: May 11, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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7,000名新生儿的WES查:俄罗斯的一项试点研究

Jekaterina Shubina1, Ekaterina Tolmacheva1, Dmitry Maslennikov1

  • 1National Medical Research Center for Obstetrics, Gynecology, and Perinatology of the Ministry of Health of the Russian Federation, 117198 Moscow, Russia.

HGG advances
|July 21, 2024
PubMed
概括

下一代测序 (NGS) 可以选新生儿的数千个基因,识别健康婴儿的罕见遗传疾病和变异. 这项大规模研究强调了扩大新生儿基因查的潜力和挑战.

关键词:
基于NGS的选在WES WES中,您可以使用单源性疾病 单源性疾病新生儿查 新生儿查发生性染色体倍化.

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Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...